inquiry@genetargeting.com
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Publications



2001 – Current

We are one of the most highly experienced and published mouse gene targeting companies in the industry. All of the publications listed on our website are specifically for gene targeted mouse models that we have created in-house for our research clients since 1998.

Over 600 Publications


Fernandez RF, Wilson ES, Diaz V, Martínez-Gardeazabal J, Foguth R, Cannon JR, Jackson SN, Hermann BP, Eells JB, Ellis JM. 2023. Lipid metabolism in dopaminergic neurons influences light entrainment. J Neurochem 165(3): 379-90. 

Harel M, Fauteux-Daniel S, Rodriguez E, Palmer G, Gabay C. 2023. IL-18 Binding Protein-Producing Cells Attenuate Anemia in Murine Macrophage Activation Syndrome. J Immunol.

Engavale M, Hernandez CJ, Infante A, LeRoith T, Radovan E, Evans L, Villarreal J, Reilly CM,  Sutton RB, Keyel PA. 2023. Deficiency of macrophage-derived Dnase1L3 causes lupus-like phenotypes in mice. bioRxiv. 

Dong L, Cheng R, Ma X, Liang W, Hong Y, Li H, Zhou K, Du Y, Takahashi Y, Zhang X, Li X, Ma JX. 2023. Regulation of monocyte activation by PPARα through interaction with the cGAS-STING pathway. Diabetes.

Flinois A, Méan I, Mutero-Maeda A, Guillemot L, Citi S. 2023. Paracingulin recruits CAMSAP3 to tight junctions and regulates microtubule and polarized epithelial organization. J Cell Sci.

Fellermeyer M, Anzilotti C, Paluch C, Cornall RJ, Davis SJ, Gileadi U. 2023. Combination CD200R/PD-1 blockade in a humanised mouse model. Immunother Adv 3(1): ltad006.

Liang W, Huang L, Whelchel A, Yuan T, Ma X, Cheng R, Takahashi Y, Karamichos D, Ma J-X. 2023. Peroxisome proliferator-activated receptor-α (PPARα) regulates wound healing and mitochondrial metabolism in the cornea. Proc Natl Acad Sci U S A 120(13): e2217576120.

Yang Y, Reid MA, Hanse EA, Li H, Li Y, Ruiz BI, Fan Q, Kong M. 2023. SAPS3 subunit of protein phosphatase 6 is an AMPK inhibitor and controls metabolic homeostasis upon dietary challenge in male mice. Nat Commun 14(1): 1368. 

Poria D, Kolesnikov AV, Lee TJ, Salom D, Palczewski K, Kefalov VJ. 2023. Investigating the Role of Rhodopsin F45L Mutation in Mouse Rod Photoreceptor Signaling and Survival. eNeuro 10(3).

Tebbe L, Mwoyosvi ML, Crane R, Makia MS, Kakakhel M, Cosgrove D, Al-Ubaidi MR, Naash MI. 2023. The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1. Nat Commun 14(1): 972.

Wang J, Zhang Z, Guan J, Tung HC, Xie J, Huang H, Chen Y, Xu M, Ren S, Li S, Zhang M, Yang D, Xie W. 2023. Hepatocyte estrogen sulfotransferase inhibition protects female mice from Concanavalin A-induced T cell-mediated hepatitis independent of estrogens. J Biol Chem. 

Kyriazis G, Serrano J, Boyd J, Mason C, Smith K, Karolyi K, Kondo S, Brown I, Maurya S, Meshram N, Serna V, Gilger J, Branch D, Gardell S, Baskin K, Ayala J, Pratley R, Goodpaster B, Coen P. 2023. The TAS1R2 sweet taste receptor regulates skeletal muscle mass and fitness. Res Sq [Preprint]. 

Kim JS, Sun H, Meeker S, Undem BJ. 2023. Role of Na(V) 1.9 in inflammatory mediator-induced activation of mouse airway vagal C-fibres. J Physiol.

Barth K, Vasić V, McDonald B, Heinig N, Wagner MC, Schumann U, Röhlecke C, Bicker F, Schumann L, Radyushkin K, Baumgart J, Tenzer S, Zipp F, Meinhardt M, Alitalo K, Tegeder I, Schmidt MHH. 2023. EGFL7 loss correlates with increased VEGF-D expression, upregulating hippocampal adult neurogenesis and improving spatial learning and memory. Cell Mol Life Sci 80(2): 54.

Le TDV, Liu D, Ellis BJ, Collins S, Ayala JE. 2023. Glucagon-Like Peptide-1 Receptor Activation Stimulates PKA-Mediated Phosphorylation of Raptor and this Contributes to the Weight Loss Effect of Liraglutide. bioRxiv.

Nakamura S, Tanimoto K, Bhawal UK. 2022. Ribosomal Stress Couples with the Hypoxia Response in Dec1-Dependent Orthodontic Tooth Movement. Int J Mol Sci 24(1): 618.

Ojeda-Alonso J, Bégay V, Garcia-Contreras J, Campos-Pérez A, Purfürst B, Lewin G. 2022. Lack of evidence for participation of TMEM150c/TENTONIN3 in sensory mechanotransduction. J Gen Physiol 154(12): e202213098.

Engelmann J, Zarrer J, Gensch V, Riecken K, Berenbrok N, Luu TV, Beitzen-Heineke A, Vargas-Delgado ME, Pantel K, Bokemeyer C, Bhamidipati S, Darwish IS, Masuda E, Burstyn-Cohen T, Alberto EJ, Ghosh S, Rothlin C, Hesse E, Taipaleenmäki H, Ben-Batalla I, Loges S. 2022. Regulation of bone homeostasis by MERTK and TYRO3. Nat Commun 13(1): 7689.

Wischhof L, Lee HM, Tutas J, Overkott C, Tedt E, Stork M, Peitz M, Brüstle O, Ulas T, Händler K, Schultze JL, Ehninger D, Nicotera P, Salomoni P, Bano D. 2022. BCL7A-containing SWI/SNF/BAF complexes modulate mitochondrial bioenergetics during neural progenitor differentiation. EMBO J 41(23): e110595.

Yuan T, Dong L, Pearsall EA, Zhou K, Cheng R, Ma JX. 2022. The Protective Role of Microglial PPARα in Diabetic Retinal Neurodegeneration and Neurovascular Dysfunction. Cells 11(23): 3869.

Xu J, Choi R, Gupta K, Warren HR, Santhanam L, Pluznick JL. 2022. An evolutionarily conserved olfactory receptor is required for sex differences in blood pressure. bioRxiv.

Abdelhamed S, Thomas ME, Westover T, Umeda M, Xiong, E, Rolle, C, Walsh MP, Wu H, Schwartz JR, Valentine V, Valentine M, Pounds S, Ma J, Janke LJ, Klco JM. 2022. Mutant Samd9l expression impairs hematopoiesis and induces bone marrow failure in mice. J Clin Invest 132(21): e158869.

Keller TCSt, Lechauve C, Keller AS, Broseghini-Filho GB, Butcher JT, Askew Page HR, Islam A, Yin Tan Z, DeLalio LJ, Brooks S, Sharma P, Hong K, Xu W, Simão Padilha A, Ruddiman CA, Best AK, Macal E, Kim-Shapiro DB, Christ G, Yan Z, Cortese-Krott MM, Ricart K, Patel R, Bender TP, Sonkusare SK, Weiss MJ, Ackerman H, Columbus L, Isakson BE. 2022. Endothelial alpha globin is a nitrite reductase. Nat Commun 13(1): 6405.

Al-Mass A, Poursharifi P, Peyot ML, Lussier R, Chenier I, Leung YH, Ghosh A, Oppong A, Possik E, Mugabo Y, Ahmad R, Sladek R, Murthy Madiraju SR, Al-Mulla F, Prentki M. 2022. Hepatic glycerol shunt and glycerol-3-phosphate phosphatase control liver metabolism and glucodetoxification under hyperglycemia. Mol Metab 66: 101609.

Ualiyeva S, Lemire E, Boyd A, Wong C, Avilés EC, Maxfield A, Roditi R, Matsumoto I, Barrett NA, Buchheit KM, Laidlaw TM, Boyce JA, Bankova L, Haber AL. 2022. Olfactory microvillar tuft cells direct neurogenesis during allergic inflammation. bioRxiv.

Lacroix M, Beauchemin H, Fraszczak J, Ross J, Shooshtarizadeh P, Chen R, Möröy T. 2022. The X-Linked Helicase DDX3X Is Required for Lymphoid Differentiation and MYC-Driven Lymphomagenesis. Cancer Res 82(17): 3172-86.

Burn TN, Miot C, Gordon SM, Culberson EJ, Diamond T, Kreiger PA, Hayer KE, Bhattacharyya A, Jones JM, Bassing CH, Behrens EM. 2022. The RAG1 Ubiquitin Ligase Domain Stimulates Recombination of TCRβ and TCRα Genes and Influences Development of αβ T Cell Lineages. J Immunol 209(5): 938-949.

Fonseca FV, Raffay TM, Xiao K, McLaughlin PJ, Qian Z, Grimmett ZW, Adachi N, Wang B, Hausladen A, Cobb BA, Zhang R, Hess DT, Gaston B, Lambert NA, Reynolds JD, Premont RT,  Stamler JS. 2022. S-nitrosylation is required for β(2)AR desensitization and experimental asthma. Mol Cell 82(16): 3089-3102.

Tanaka S, Zheng S, Kharel Y, Fritzemeier RG, Huang T, Foster D, Poudel N, Goggins E, Yamaoka Y, Rudnicka KP, Lipsey JE, Radel HV, Ryuh SM, Inoue T, Yao J, Rosin DL, Schwab SR, Santos WL, Lynch KR, Okusa MD. 2022. Sphingosine 1-phosphate signaling in perivascular cells enhances inflammation and fibrosis in the kidney. Sci Transl Med 14(658): eabj2681.

Akalu YT, Mercau ME, Ansems M, Hughes LD, Nevin J, Alberto EJ, Liu XN, He LZ, Alvarado D, Keler T, Kong Y, Philbrick WM, Bosenberg M, Finnemann SC, Iavarone A, Lasorella A, Rothlin CV, Ghosh S. 2022. Tissue-specific modifier alleles determine Mertk loss-of-function traits. Elife 11: e80530.

Yang H, Yuan L, Ibaragi S, Li S, Shapiro R, Vanli N, Goncalves KA, Yu W, Kishikawa H, Jiang Y, Hu AJ, Jay D, Cochran B, Holland EC, Hu GF. 2022. Angiogenin and plexin-B2 axis promotes glioblastoma progression by enhancing invasion, vascular association, proliferation and survival. Br J Cancer 127(3): 422-435.

Sellar RS, Sperling AS, Słabicki M, Gasser JA, McConkey ME, Donovan KA, Mageed N, Adams DN, Zou C, Miller PG, Dutta RK, Boettcher S, Lin AE, Sandoval B, Quevedo Barrios VA, Kovalcik V, Koeppel J, Henderson EK, Fink EC, Yang L, Chan A, Pangeni Pokharel S, Bergstrom EJ, Burt R, Udeshi ND, Carr SA, Fischer ES, Chen C-W, Ebert BL. 2022. Degradation of GSPT1 causes TP53-independent cell death in leukemia while sparing normal hematopoietic stem cells. J Clin Invest 132(16): e153514.

Li Q, Lin J, Widrick JJ, Luo S, Li G, Zhang Y, Laporte J, Perrella MA, Liu X, Agrawal PB. 2022. Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model. JCI Insight 7(15): e157336.

Rumney RMH, Róg J, Chira N, Kao AP, Al-Khalidi R, & Górecki DC. 2022. P2X7 Purinoceptor Affects Ectopic Calcification of Dystrophic Muscles. Front Pharmacol 13: 935804.

Keller R, Yamada M, Cameron D, Suzuki H, Sanghrajka R, Vaynshteyn J, Gerwin J, Maura F, Hooper W, Shah M, Robine N, Demarest P, Sumru Bayin N, Jubierre L, Reed C, Taylor MD, Joyner AL, Praveen Raju G, Kentsis A. 2022. Childhood cancer mutagenesis caused by a domesticated DNA transposase. bioRxiv.

Widjaja-Adhi MAK, Kolesnikov AV, Vasudevan S, Park PS, Kefalov VJ, Golczak M. 2022. Acyl-CoA:wax alcohol acyltransferase 2 modulates the cone visual cycle in mouse retina. FASEB J 36(7): e22390.

Gleixner AM, Verdone BM, Otte CG, Anderson EN, Ramesh N, Shapiro OR, Gale JR, Mauna JC, Mann JR, Copley KE, Daley EL, Ortega JA, Cicardi ME, Kiskinis E, Kofler J, Pandey UB, Trotti D, Donnelly CJ. 2022. NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility. Nat Commun 13(1): 3380.

Kasatkina LA, Ma C, Matlashov ME, Vu T, Li M, Kaberniuk AA, Yao J, Verkhusha VV. 2022. Optogenetic manipulation and photoacoustic imaging using a near-infrared transgenic mouse model. Nat Commun 13(1): 2813.

Dunbar A, Bowman RL, Park Y, Izzo F, Myers RM, Karzai A, Jun Kim W, Fernández Maestre I, Waarts MR, Nazir A, Xiao W, Brodsky M, Farina M, Cai L, Cai SF, Wang B, An W, Yang JL, Mowla S, Eisman SE, Mishra T, Houston R, Guzzardi E, Martinez Benitez AR, Viny A, Koche R, Landau DA, Levine RL. 2022. Jak2V617F Reversible Activation Shows an Essential Requirement for Jak2V617F in Myeloproliferative Neoplasms. bioRxiv.

Liu Q, Liu M, Jin Y, Li B. 2022. Rapid and enzyme-free signal amplification for fluorescent detection of microRNA via localized catalytic hairpin assembly on gold nanoparticles. Talanta 15(242): 123142.

Tebbe L, Sakthivel H, Makia MS, Kakakhel M, Conley SM, Al-Ubaidi MR, Naash MI. 2022. Prph2 disease mutations lead to structural and functional defects in the RPE. FASEB J. 36(5): e22284.

Desiderio S, Schwaller F, Lewin GR, Carroll P, Marmigère F. Touch receptor end-organ innervation and function requires sensory expression of the transcription factor Meis2. bioRxiv.

Gao K, Zong H, Hou K, Zhang Y, Zhang R, Zhao D, Guo X, Luo Y, Jia S. 2022. p53N236S Activates Autophagy in Response to Hypoxic Stress Induced by DFO. Genes (Basel) 13(5): 763.

Wani S, Law IKM, Bugwadia AK, Hoffman JM, Pothoulakis C. 2022. Substance P and adenosine signaling pathways regulate exosomal sorting of miR-21 in colonic epithelial cells. bioRxiv.

Vasić V, Barth K, Bicker F, Schumann U, Maurer C, Heinig N, Röhlecke C, Nimtschke U, Schumann L, Meinhardt M, Mittmann T, Radyushkin K, Baumgart J, Tenzer S, Zipp F, Tegeder I, Schmidt MHH. 2022. Less is more – loss of EGFL7 improves memory by upregulation of VEGF-D. bioRxiv.

Verdone BM, Cicardi ME, Wen X, Sriramoji S, Russell K, Markandaiah SS, Jensen BK, Krishnamurthy K, Haeusler AR, Pasinelli P, Trotti D. 2022. A mouse model with widespread expression of the C9orf72-linked glycine-arginine dipeptide displays non-lethal ALS/FTD-like phenotypesSci Rep 12(1): 5644.

Kasai Y, Gan SP, Funaki T, Ohashi-Kumagai Y, Tominaga M, Shiu SJ, Suzuki D, Matsubara D, Sakamoto T, Sakurai-Yageta M, Ito T, Murakami Y. 2022. Trans-homophilic interaction of CADM1 promotes organ infiltration of T-cell lymphoma by adhesion to vascular endothelium. Cancer Sci 113(5): 1669-78.

Zhang K, Baumann B, Song Y, Sterling J, Erler E, Guttha S, Kozmik Z, Dunaief J. 2022. Conditional knockout of hephaestin in the neural retina disrupts retinal iron homeostasis. Exp Eye Res 218: 109028.

Al-Mass A, Poursharifi P, Peyot M-L, Lussier R, Levens EJ, Guida J, Mugabo Y, Possik E, Ahmad R, Al-Mulla F, Sladek R, Madiraju SRM, Prentki M. 2022. Glycerol-3-phosphate phosphatase operates a glycerol shunt in pancreatic β-cells that controls insulin secretion and metabolic stress. Mol Metab 60: 101471.

Stifler C, Yamazaki H, Gilbert P, Margolis H, Beniash E. 2022. Loss of biological control of enamel mineralization in amelogenin-phosphorylation-deficient miceJ Struct Biol 214(2): 107844.

Lee J, Chae S, Nan J, Do Koo Y, Lee S, Park Y, Hwang D, Han W, Lee D, Kim Y, Chung S, Park K. 2022. SENP2 suppresses browning of white adipose tissues by de-conjugating SUMO from C/EBPβCell Rep 38(8): 110408.

Royer C, Sandham E, Slee E, Godwin J, Veits N, Hathrell H, Zhou F, Leonavicius K, Garratt J, Narendra T, Vincent A, Jones C, Child T, Coward K, Graham C, Lu X, Srinivas S. 2022. ASPP2 maintains the integrity of mechanically stressed pseudostratified epithelia during morphogenesis. Nat Commun 13(1): 941.

Márta K, Booth D, Csordás G, Hajnóczky G. 2022. Fluorescent protein transgenic mice for the study of Ca2+ and redox signalingFree Radic Biol Med 181: 241-250.

Darbandi S, Nelson A, Pai E, Bender K, Rubenstein J. 2022.  LiCl treatment leads to long-term restoration of spine maturation and synaptogenesis in adult Tbr1 mutants. J Neurodev Disord 14(1): 11

Bandarabadi M, Li S, Tafti M, Colombo G, Becchetti A, Vassalli A. 2022. Orexin action on the dopaminergic system modulates theta during REM sleep and wakefulness. bioRxiv.

Smith TC, Vasilakos G, Shaffer S, Puglise J, Chou C, Barton E, Luna E. 2022. Novel γ-sarcoglycan interactors in murine muscle membranes. Skelet Muscle 12(1): 2.

Nan J, Lee JS, Moon JH, Lee SA, Park YJ, Lee DS, Chung SS, Park KS. 2022. SENP2 regulates mitochondrial function and insulin secretion in pancreatic β cells. Exp Mol Med 54(1): 72–80.

Szaroszyk M, Kattih B, Martin-Garrido A, Trogisch FA, Dittrich GM, Grund A, Abouissa A, Derlin K, Meier M, Holler T, Korf-Klingebiel M, Völker K, Garfias Macedo T, Pablo Tortola C, Boschmann M, Huang N, Froese N, Zwadlo C, Malek Mohammadi M, Luo X, Wagner M, Cordero J, Geffers R, Batkai S, Thum T, Bork N, Nikolaev VO, Müller OJ, Katus HA, El-Armouche A, Kraft T, Springer J, Dobreva G, Wollert KC, Fielitz J, von Haehling S, Kuhn M, Bauersachs J, Heineke J. 2022. Skeletal muscle derived Musclin protects the heart during pathological overload. Nat Commun 13(1): 149.

Cheng C, Weiss L, Leinonen H, Shmara A, Yin HZ, Ton T, Do A, Lee J, Ta L, Mohanty E, Vargas J, Weiss J, Palczewski K, Kimonis V. 2022. VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathy. J Transl Med 20(1): 21.

Serrano J, Meshram NN, Soundarapandian MM, Smith KR, Mason C, Brown IS, Tyrberg B, Kyriazis GA. 2022. Saccharin Stimulates Insulin Secretion Dependent on Sweet Taste Receptor-Induced Activation of PLC Signaling Axis. Biomedicines 10(1): 120.

Heinen T, Xie C, Keshavarz M, Stappert D, Künzel S, Tautz D. 2022. Evolution of a New Testis-Specific Functional Promoter Within the Highly Conserved Map2k7 Gene of the Mouse. Front Genet 12: 812139.

Lüönd F, Sugiyama N, Bill R, Bornes L, Hager C, Tang F, Santacroce N, Beisel C, Ivanek R, Bürglin T, Tiede S, van Rheenen J, Christofori G. 2021. Distinct contributions of partial and full EMT to breast cancer malignancyDev Cell 56(23): 3203-3221.e11.

Poh L, Razak S, Lim HM, Lai MKP, Chen CL, Lim LHK, Arumugam TV, Fann DY. 2021. AIM2 inflammasome mediates apoptotic and pyroptotic death in the cerebellum following chronic hypoperfusionExp Neurol 346: 113856.

Tirado-Gonzalez I, Descot A, Soetopo D, Nevmerzhitskaya A, Schäffer A, Kur IM, Czlonka E, Wachtel C, Tsoukala I, Müller L, Schäfer AL, Weitmann M, Dinse P, Alberto E, Buck MC, Landry JJ, Baying B, Slotta-Huspenina J, Roesler J, Harter PN, Kubasch AS, Meinel J, Elwakeel E, Strack E, Quang CT, Abdel-Wahab O, Schmitz M, Weigert A, Schmid T, Platzbecker U, Benes V, Ghysdael J, Bonig H, Götze KS, Rothlin CV, Ghosh S, Medyouf H. 2021. AXL Inhibition in Macrophages Stimulates Host-versus-Leukemia Immunity and Eradicates Naïve and Treatment-Resistant Leukemia. Cancer Discov 11(11): 2924-2943.

Rosier K, McDevitt MT, Smet J, Floyd BJ, Verschoore M, Marcaida MJ, Bingman CA, Lemmens I, Dal Peraro M, Tavernier J, Cravatt BF, Gounko NV, Vints K, Monnens Y,  Bhalla K, Aerts L, Rashan EH, Vanlander AV, Van Coster R, Régal L, Pagliarini DJ, Creemers JWM. 2021. Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain functionScience 24(12): 103460.

Wadugu BA, Heard A, Srivatsan SN, Alberti MO, Ndonwi M, Grieb S, Bradley J, Shao J, Ahmed T, Shirai CL, Khanna A, Fei DL, Miller CA, Graubert TA, Walter MJ. 2021. U2AF1 is a haplo-essential gene required for cancer cell survivalJ Clin Invest 131(21): e141401.

McGuire MR, Mukhopadhyay D, Myers SL, Mosher EP, Brookheart RT, Kammers K, Sehgal A, Selen ES, Wolfgang MJ, Bumpus NN, Espenshade PJ. 2021. Progesterone receptor membrane component 1 (PGRMC1) binds and stabilizes cytochromes P450 through a heme-independent mechanismJ Biol Chem 297(5): 101316.

Ouyang X, Becker E, Jr., Bone NB, Johnson MS, Craver J, Zong WX, Darley-Usmar VM, Zmijewski JW, Zhang J. 2021. ZKSCAN3 in severe bacterial lung infection and sepsis-induced immunosuppressionLab Invest 101(11): 1467-1474.

Vacher CM, Lacaille H, O’Reilly JJ, Salzbank J, Bakalar D, Sebaoui S, Liere P, Clarkson-Paredes C, Sasaki T, Sathyanesan A, Kratimenos P, Ellegood J, Lerch JP, Imamura Y, Popratiloff A, Hashimoto-Torii K, Gallo V, Schumacher M, Penn AA. 2021. Placental endocrine function shapes cerebellar development and social behaviorNat Neurosci 24(10): 1392-1401.

Dogra S, Stansley BJ, Xiang Z, Qian W, Gogliotti RG, Nicoletti F, Lindsley CW, Niswender CM, Joffe ME, Conn PJ. 2021. Activating mGlu3 metabotropic glutamate receptors rescues schizophrenia-like cognitive deficits through metaplastic adaptations within the hippocampusBiol Psychiatry 90(6): 385-398.

Anderson-Baucum E, Piñeros AR, Kulkarni A, Webb-Robertson BJ, Maier B, Anderson RM, Wu W, Tersey SA, Mastracci TL, Casimiro I, Scheuner D, Metz TO, Nakayasu ES, Evans-Molina C, Mirmira RG. 2021. Deoxyhypusine synthase promotes a pro-inflammatory macrophage phenotypeCell Metab 33(9): 1883-1893.e7.

Hale J, An X, Guo X, Gao E, Papoin J, Blanc L, Hillyer CD, Gratzer W, Baines A, Mohandas N. 2021. αI-spectrin represents evolutionary optimization of spectrin for red blood cell deformabilityBiophys J 120(17): 3588-3599.

Wang CC, Weyrer C, Fioravante D, Kaeser PS, Regehr WG. 2021. Presynaptic short-term plasticity persists in the absence of PKC phosphorylation of Munc18-1J Neurosci 41(35): 7329-7339.

Andres-Hernando A, Cicerchi C, Kuwabara M, Orlicky DJ, Sanchez-Lozada LG, Nakagawa T, Johnson RJ, Lanaspa MA. 2021. Umami-induced obesity and metabolic syndrome is mediated by nucleotide degradation and uric acid generationNat Metab 3(9): 1189-1201.

He D, Li X, Zhang F, Wang C, Liu Y, Bhawal UK, Sun J. 2021. Dec2 inhibits macrophage pyroptosis to promote periodontal homeostasisJ Periodontal Implant Sci.

Yang W, Chen L, Xu L, Bilotta AJ, Yao S, Liu Z, Cong Y. 2021. MicroRNA-10a Negatively Regulates CD4 + T Cell IL-10 Production through Suppression of Blimp1J Immunol 207(3): 985-995.

Poh L, Fann DY, Wong P, Lim HM, Foo SL, Kang SW, Rajeev V, Selvaraji S, Vinaya RI, Parathy N, Khan MB, Jo DG, Drummond GR, Sobey CG, Lai MKP, Chen CLH, Lim LHK, Arumugam TV. 2021. AIM2 Inflammasome Mediates Hallmark Neuropathological Alterations and Cognitive Impairment in a Mouse Model of Vascular DementiaMol Psychiatry 26(8):4544-4560.

Wang Q, Wang S, Sun Z. 2021. Kidney-Specific Klotho Gene Deletion Causes Aortic Aneurysm via HyperphosphatemiaHypertension 78(2): 308-319.

Gao Y, Cardamone MD, Kwan J, Orofino J, Hekman R, Lyons S, Emili A, Perissi V. 2021. Inhibition of Mul1-mediated ubiquitination promotes mitochondria-associated translationBioRxiv.

Modarresi F, Pedram Fatemi R, Razavipour SF, Ricciardi N, Makhmutova M, Khoury N, Magistri M, Volmar CH, Wahlestedt C, Faghihi MA. 2021. A novel knockout mouse model of the noncoding antisense Brain-Derived Neurotrophic Factor ( Bdnf) gene displays increased endogenous Bdnf protein and improved memory function following exerciseHeliyon 7(7): e07570.

Leinonen H, Cheng C, Pitkänen M, Sander CL, Zhang J, Saeid S, Turunen T, Shmara A, Weiss L, Ta L, Ton T, Koskelainen A, Vargas JD, Kimonis V, Palczewski K. 2021. A p97/Valosin-Containing Protein Inhibitor Drug CB-5083 Has a Potent but Reversible Off-Target Effect on Phosphodiesterase-6J Pharmacol Exp Ther 378(1): 31-41.

Xu P, Xi Y, Zhu J, Zhang M, Luka Z, Stolz DB, Cai X, Xie Y, Xu M, Ren S, Huang Z, Yang D, York JD, Ma X, Xie W. 2021. Intestinal Sulfation Is Essential to Protect Against Colitis and Colonic CarcinogenesisGastroenterology 161(1): 271-286.e11.

Guix FX, Capitán AM, Casadomé-Perales Á, Palomares-Pérez I, López Del Castillo I, Miguel V, Goedeke L, Martín MG, Lamas S, Peinado H, Fernández-Hernando C, Dotti CG. 2021. Increased exosome secretion in neurons aging in vitro by NPC1-mediated endosomal cholesterol buildupLife Sci Alliance 4(8): e202101055.

Chen L, Wimalasena NK, Shim J, Han C, Lee SI, Gonzalez-Cano R, Estacion M, Faber CG, Lauria G, Dib-Hajj SD, Woolf CJ, Waxman SG. 2021. Two independent mouse lines carrying the Nav1.7 I228M gain-of-function variant display dorsal root ganglion neuron hyperexcitability but a minimal pain phenotypePain 162(6): 1758-1770.

Samant SA, Pillai VB, Gupta MP. 2021. Skeletal muscle-specific over-expression of the nuclear sirtuin SIRT6 blocks cancer-associated cachexia by regulating multiple targetsJCSM Rapid Commun 4(1): 40-56.

Ishii Y, Takasu S, Grúz P, Masumura K, Ogawa K, Nohmi T, Umemura T. 2021. The Role of DNA Polymerase ζ in Benzo[a]pyrene-induced Mutagenesis in the Mouse LungMutagenesis 36(2): 155-164.

Adelaja A, Taylor B, Sheu KM, Liu Y, Luecke S, Hoffmann A. 2021. Six distinct NFκB signaling codons convey discrete information to distinguish stimuli and enable appropriate macrophage responsesImmunity 54(5): 916-930.e7.

Malinova TS, Angulo-Urarte A, Nüchel J, Tauber M, van der Stoel MM, Janssen V, de Haan A, Groenen AG, Tebbens M, Graupera M, Plomann M, Huveneers S. 2021. A junctional PACSIN2/EHD4/MICAL-L1 complex coordinates VE-cadherin trafficking for endothelial migration and angiogenesisNat Commun 12(1): 2610.

Choi EH, Suh S, Einstein DE, Leinonen H, Dong Z, Ramachandra Rao S, Fliesler SJ, Blackshaw S, Yu M, Peachey NS, Palczewski K, Kiser PD. 2021. An inducible Cre mouse for studying roles of the RPE in retinal physiology and diseaseJCI Insight 6(9): e146604.

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Huang ZM, Gao E, Fonseca FV, Hayashi H, Shang X, Hoffman NE, Chuprun JK, Tian X, Tilley DG, Madesh M, Lefer DJ, Stamler JS, Koch WJ. 2013. Convergence of G protein-coupled receptor and S-nitrosylation signaling determines the outcome to cardiac ischemic injury. Sci Signal 6: ra95.

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Tsukamoto K, Mani DR, Shi J, Zhang S, Haagensen DE, Otsuka F, Guan J, Smith JD, Weng W, Liao R, Kolodgie FD, Virmani R, Krieger M. 2013. Identification of apolipoprotein D as a cardioprotective gene using a mouse model of lethal atherosclerotic coronary artery disease. Proc Natl Acad Sci U S A 110: 17023-17028.

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Schlehe JS, Journel MS, Taylor KP, Amodeo KD, LaVoie MJ. 2013. The mitochondrial disease associated protein Ndufaf2 is dispensable for Complex-1 assembly but critical for the regulation of oxidative stress. Neurobiol Dis 58: 57-67.

Xu L, Lu PJ, Wang CH, Keramaris E, Qiao C, Xiao B, Blake DJ, Xiao X, Lu QL. 2013. Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of alpha-dystroglycan and improves muscle functions. Mol Ther 21: 1832-1840.

Ota T, Doyle-Cooper C, Cooper AB, Doores KJ, Aoki-Ota M, Le K, Schief WR, Wyatt RT, Burton DR, Nemazee D. 2013. B cells from knock-in mice expressing broadly neutralizing HIV antibody b12 carry an innocuous B cell receptor responsive to HIV vaccine candidates. J Immunol 191: 3179-3185.

Ramirez-Ortiz ZG, Pendergraft WF, 3rd, Prasad A, Byrne MH, Iram T, Blanchette CJ, Luster AD, Hacohen N, El Khoury J, Means TK. 2013. The scavenger receptor SCARF1 mediates the clearance of apoptotic cells and prevents autoimmunity. Nat Immunol 14: 917-926.

Blaeser A, Keramaris E, Chan YM, Sparks S, Cowley D, Xiao X, Lu QL. 2013. Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes. Hum Genet 132: 923-934.

Donaldson ZR, Young LJ. 2013. The relative contribution of proximal 5′ flanking sequence and microsatellite variation on brain vasopressin 1a receptor (Avpr1a) gene expression and behaviorPLoS Genet 9(8): e1003729.

Jun JC, Kertesy S, Jones MB, Marinis JM, Cobb BA, Tigno-Aranjuez JT, Abbott DW. 2013. Innate immune-directed NF-kappaB signaling requires site-specific NEMO ubiquitination. Cell Rep 4: 352-361.

Hanel W, Marchenko N, Xu S, Yu SX, Weng W, Moll U. 2013. Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis. Cell Death Differ 20: 898-909.

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Van’t Veer A, Bechtholt AJ, Onvani S, Potter D, Wang Y, Liu-Chen LY, Schutz G, Chartoff EH, Rudolph U, Cohen BM, Carlezon WA Jr. 2013. Ablation of kappa-opioid receptors from brain dopamine neurons has anxiolytic-like effects and enhances cocaine-induced plasticity. Neuropsychopharmacology 38: 1585-1597.

Wiig H, Schroder A, Neuhofer W, Jantsch J, Kopp C, Karlsen TV, Boschmann M, Goss J, Bry M, Rakova N, Dahlmann A, Brenner S, Tenstad O, Nurmi H, Mervaala E, Wagner H, Beck FX, Müller DN, Kerjaschki D, Luft FC, Harrison DG, Alitalo K, Titze J. 2013. Immune cells control skin lymphatic electrolyte homeostasis and blood pressure. J Clin Invest 123: 2803-2815.

Edwards JP, Fujii H, Zhou AX, Creemers J, Unutmaz D, Shevach EM. 2013. Regulation of the expression of GARP/latent TGF-beta1 complexes on mouse T cells and their role in regulatory T cell and Th17 differentiation. J Immunol 190: 5506-5515.

Cantu C, Valenta T, Hausmann G, Vilain N, Aguet M, Basler K. 2013. The Pygo2-H3K4me2/3 interaction is dispensable for mouse development and Wnt signaling-dependent transcription. Development 140: 2377-2386.

Caruso N, Herberth B, Bartoli M, Puppo F, Dumonceaux J, Zimmermann A, Denadai S, Lebosse M, Roche S, Geng L, Magdinier F, Attarian S, Bernard R, Maina F, Levy N, Helmbacher F. 2013. Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. PLoS Genet 9: e1003550.

Nandar W, Neely EB, Unger E, Connor JR. 2013. A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice. Biochim Biophys Acta 1832: 729-741.

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Lee GS, He Y, Dougherty EJ, Jimenez-Movilla M, Avella M, Grullon S, Sharlin DS, Guo C, Blackford JA, Jr., Awasthi S, Zhang Z, Armstrong SP, London EC, Chen W, Dean J, Simons SS Jr. 2013. Disruption of Ttll5/stamp gene (tubulin tyrosine ligase-like protein 5/SRC-1 and TIF2-associated modulatory protein gene) in male mice causes sperm malformation and infertility. J Biol Chem 288: 15167-15180.

Lee PC, Dodart JC, Aron L, Finley LW, Bronson RT, Haigis MC, Yankner BA, Harper JW. 2013. Altered social behavior and neuronal development in mice lacking the Uba6-Use1 ubiquitin transfer system. Mol Cell 50: 172-184.

Poddar D, Basu A, Baldwin WM, 3rd, Kondratov RV, Barik S, Mazumder B. 2013. An extraribosomal function of ribosomal protein L13a in macrophages resolves inflammation. J Immunol 190: 3600-3612.

Moghadaszadeh B, Rider BE, Lawlor MW, Childers MK, Grange RW, Gupta K, Boukedes SS, Owen CA, Beggs AH. 2013. Selenoprotein N deficiency in mice is associated with abnormal lung development. FASEB J 27: 1585-1599.

Herring BE, Shi Y, Suh YH, Zheng CY, Blankenship SM, Roche KW, Nicoll RA. 2013. Cornichon proteins determine the subunit composition of synaptic AMPA receptors. Neuron 77: 1083-1096.

Garcia-Corzo L, Luna-Sanchez M, Doerrier C, Garcia JA, Guaras A, Acin-Perez R, Bullejos-Peregrin J, Lopez A, Escames G, Enriquez JA, Acuña-Castroviejo D, López LC. 2013. Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency. Hum Mol Genet 22: 1233-1248.

Ferrer M, Cornwall G, Oko R. 2013. A population of CRES resides in the outer dense fibers of spermatozoa. Biol Reprod 88: 65.

Kim MH, de Beer MC, Wroblewski JM, Webb NR, de Beer FC. 2013. SAA does not induce cytokine production in physiological conditions. Cytokine 61: 506-512.

Nalbandian A, Llewellyn KJ, Badadani M, Yin HZ, Nguyen C, Katheria V, Watts G, Mukherjee J, Vesa J, Caiozzo V, Mozaffar T, Weiss JH, Kimonis VE. 2013. A progressive translational mouse model of human valosin-containing protein disease: the VCP(R155H/+) mouse. Muscle Nerve 47: 260-270.

Ghosal A, Lambrecht N, Subramanya SB, Kapadia R, Said HM. 2013. Conditional knockout of the Slc5a6 gene in mouse intestine impairs biotin absorption. Am J Physiol Gastrointest Liver Physiol 304: G64-71.

Zhang N, Kolesnikov AV, Jastrzebska B, Mustafi D, Sawada O, Maeda T, Genoud C, Engel A, Kefalov VJ, Palczewski K. 2013. Autosomal recessive retinitis pigmentosa E150K opsin mice exhibit photoreceptor disorganization. J Clin Invest 123: 121-137.

de Beer MC, Wroblewski JM, Noffsinger VP, Ji A, Meyer JM, van der Westhuyzen DR, de Beer FC, Webb NR. 2013. The Impairment of Macrophage-to-Feces Reverse Cholesterol Transport during Inflammation Does Not Depend on Serum Amyloid A. J Lipids 2013: 283486.

Andersson DC, Betzenhauser MJ, Reiken S, Umanskaya A, Shiomi T, Marks AR. 2012. Stress-induced increase in skeletal muscle force requires protein kinase A phosphorylation of the ryanodine receptor. J Physiol 590: 6381-6387.

Vanleeuwen JE, Penzes P. 2012. Long-term perturbation of spine plasticity results in distinct impairments of cognitive function. J Neurochem 123: 781-789.

Guillemot L, Schneider Y, Brun P, Castagliuolo I, Pizzuti D, Martines D, Jond L, Bongiovanni M, Citi S. 2012. Cingulin is dispensable for epithelial barrier function and tight junction structure, and plays a role in the control of claudin-2 expression and response to duodenal mucosa injury. J Cell Sci 125: 5005-5014.

Xiang F, Cui B, Gao Q, Zhang J, Zhang J, Li W. 2012. Decreased levels of Ca(2)(+)-calmodulin-dependent protein kinase IV in the testis as a contributing factor to reduced fertility in male Crybb2(-)/(-) mice. Int J Mol Med 30: 1145-1151.

Lapointe J, Wang Y, Bigras E, Hekimi S. 2012. The submitochondrial distribution of ubiquinone affects respiration in long-lived Mclk1+/- mice. J Cell Biol 199: 215-224.

Huang H, Kong D, Byun KH, Ye C, Koda S, Lee DH, Oh BC, Lee SW, Lee B, Zabolotny JM, Kim MS, Bjørbæk C, Lowell BB, Kim YB. 2012. Rho-kinase regulates energy balance by targeting hypothalamic leptin receptor signaling. Nat Neurosci 15: 1391-1398.

Konsavage WM, Jr., Jin G, Yochum GS. 2012. The Myc 3′ Wnt-responsive element regulates homeostasis and regeneration in the mouse intestinal tract. Mol Cell Biol 32: 3891-3902.

Wang C, Lee JE, Cho YW, Xiao Y, Jin Q, Liu C, Ge K. 2012. UTX regulates mesoderm differentiation of embryonic stem cells independent of H3K27 demethylase activity. Proc Natl Acad Sci U S A 109: 15324-15329.

Zhang J, Neal J, Lian G, Shi B, Ferland RJ, Sheen V. 2012. Brefeldin A-inhibited guanine exchange factor 2 regulates filamin A phosphorylation and neuronal migration. J Neurosci 32: 12619-12629.

Zou C, Levine EM. 2012. Vsx2 controls eye organogenesis and retinal progenitor identity via homeodomain and non-homeodomain residues required for high affinity DNA binding. PLoS Genet 8: e1002924.

Suthar MS, Ramos HJ, Brassil MM, Netland J, Chappell CP, Blahnik G, McMillan A, Diamond MS, Clark EA, Bevan MJ, Gale M Jr. 2012. The RIG-I-like receptor LGP2 controls CD8(+) T cell survival and fitnessImmunity 37(2): 235-48.

Yin HZ, Nalbandian A, Hsu CI, Li S, Llewellyn KJ, Mozaffar T, Kimonis VE, Weiss JH. 2012. Slow development of ALS-like spinal cord pathology in mutant valosin-containing protein gene knock-in mice. Cell Death Dis 3: e374.

Cook JR, Smaldone S, Cozzolino C, del Solar M, Lee-Arteaga S, Nistala H, Ramirez F. 2012. Generation of Fbn1 conditional null mice implicates the extracellular microfibrils in osteoprogenitor recruitment. Genesis 50: 635-641.

Robbins GR, Truax AD, Davis BK, Zhang L, Brickey WJ, Ting JP. 2012. Regulation of class I major histocompatibility complex (MHC) by nucleotide-binding domain, leucine-rich repeat-containing (NLR) proteins. J Biol Chem 287: 24294-24303.

Geng R, Melki S, Chen DH, Tian G, Furness DN, Oshima-Takago T, Neef J, Moser T, Askew C, Horwitz G, Holt JR, Imanishi Y, Alagramam KN. 2012. The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene. J Neurosci 32: 9485-9498.

Gonzalez S, Rangel-Barajas C, Peper M, Lorenzo R, Moreno E, Ciruela F, Borycz J, Ortiz J, Lluis C, Franco R, McCormick PJ, Volkow ND, Rubinstein M, Floran B, Ferré S. 2012. Dopamine D4 receptor, but not the ADHD-associated D4.7 variant, forms functional heteromers with the dopamine D2S receptor in the brain. Mol Psychiatry 17: 650-662.

Zhang Y, Rubin GR, Fineberg N, Huisingh C, McGwin G, Pittler SJ, Kraft TW. 2012. Age-related changes in Cngb1-X1 knockout mice: prolonged cone survival. Doc Ophthalmol 124: 163-175.

Zinzow-Kramer WM, Long AB, Youngblood BA, Rosenthal KM, Butler R, Mohammed AU, Skountzou I, Ahmed R, Evavold BD, Boss JM. 2012. CIITA promoter I CARD-deficient mice express functional MHC class II genes in myeloid and lymphoid compartments. Genes Immun 13: 299-310.

Zhang X, Thatcher SE, Rateri DL, Bruemmer D, Charnigo R, Daugherty A, Cassis LA. 2012. Transient exposure of neonatal female mice to testosterone abrogates the sexual dimorphism of abdominal aortic aneurysms. Circ Res 110: e73-85.

Agrawal PB, Joshi M, Savic T, Chen Z, Beggs AH. 2012. Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance. Hum Mol Genet 21: 2341-2356.

Popmihajlov Z, Xu D, Morgan H, Milligan Z, Smith KA. 2012. Conditional IL-2 Gene Deletion: Consequences for T Cell Proliferation. Front Immunol 3: 102.

Shim H, Wang CT, Chen YL, Chau VQ, Fu KG, Yang J, McQuiston AR, Fisher RA, Chen CK. 2012. Defective retinal depolarizing bipolar cells in regulators of G protein signaling (RGS) 7 and 11 double null mice. J Biol Chem 287: 14873-14879.

Wolkow N, Song D, Song Y, Chu S, Hadziahmetovic M, Lee JC, Iacovelli J, Grieco S, Dunaief JL. 2012. Ferroxidase hephaestin’s cell-autonomous role in the retinal pigment epithelium. Am J Pathol 180: 1614-1624.

Ukarapong S, Bao Y, Perera EM, Berkovitz GD. 2012. Megakaryocyte development is normal in mice with targeted disruption of Tescalcin. Exp Cell Res 318: 662-669.

Yang G, Li H, Tang G, Wu L, Zhao K, Cao Q, Xu C, Wang R. 2012. Increased neointimal formation in cystathionine gamma-lyase deficient mice: role of hydrogen sulfide in alpha5beta1-integrin and matrix metalloproteinase-2 expression in smooth muscle cells. J Mol Cell Cardiol 52: 677-688.

Singh G, Hashimoto D, Yan X, Helft J, Park PJ, Ma G, Qiao RF, Kennedy CR, Chen SH, Merad M, Chan AM. 2012. R-Ras is required for murine dendritic cell maturation and CD4+ T-cell primingBlood 119(7): 1693-701.

Pierson CR, Dulin-Smith AN, Durban AN, Marshall ML, Marshall JT, Snyder AD, Naiyer N, Gladman JT, Chandler DS, Lawlor MW, Buj-Bello A, Dowling JJ, Beggs AH. 2012. Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Hum Mol Genet 21: 811-825.

Rajadhyaksha AM, Ra S, Kishinevsky S, Lee AS, Romanienko P, DuBoff M, Yang C, Zupan B, Byrne M, Daruwalla ZR, Mark W, Kosofsky BE, Toth M, Higgins JJ. 2012. Behavioral characterization of cereblon forebrain-specific conditional null mice: a model for human non-syndromic intellectual disabilityBehav Brain Res 226(2): 428-34.

Yiannikouris F, Karounos M, Charnigo R, English VL, Rateri DL, Daugherty A, Cassis LA. 2012. Adipocyte-specific deficiency of angiotensinogen decreases plasma angiotensinogen concentration and systolic blood pressure in mice. Am J Physiol Regul Integr Comp Physiol 302: R244-251.

Eliyahu E, Shtraizent N, Shalgi R, Schuchman EH. 2012. Construction of conditional acid ceramidase knockout mice and in vivo effects on oocyte development and fertility. Cell Physiol Biochem 30: 735-748.

Makino CL, Wen XH, Olshevskaya EV, Peshenko IV, Savchenko AB, Dizhoor AM. 2012. Enzymatic relay mechanism stimulates cyclic GMP synthesis in rod photoresponse: biochemical and physiological study in guanylyl cyclase activating protein 1 knockout mice. PLoS One 7: e47637.

Miller NL, Lawson C, Chen XL, Lim ST, Schlaepfer DD. 2012. Rgnef (p190RhoGEF) knockout inhibits RhoA activity, focal adhesion establishment, and cell motility downstream of integrins. PLoS One 7(5): e37830.

Nalbandian A, Llewellyn KJ, Kitazawa M, Yin HZ, Badadani M, Khanlou N, Edwards R, Nguyen C, Mukherjee J, Mozaffar T, Watts G, Weiss J, Kimonis VE. 2012. The homozygote VCP(R(1)(5)(5)H/R(1)(5)(5)H) mouse model exhibits accelerated human VCP-associated disease pathology. PLoS One 7: e46308.

Rateri DL, Moorleghen JJ, Knight V, Balakrishnan A, Howatt DA, Cassis LA, Daugherty A. 2012. Depletion of endothelial or smooth muscle cell-specific angiotensin II type 1a receptors does not influence aortic aneurysms or atherosclerosis in LDL receptor deficient mice. PLoS One 7: e51483.

Soberman RJ, MacKay CR, Vaine CA, Ryan GB, Cerny AM, Thompson MR, Nikolic B, Primo V, Christmas P, Sheiffele P, Aronov L, Knipe DM, Kurt-Jones EA. 2012. CD200R1 supports HSV-1 viral replication and licenses pro-inflammatory signaling functions of TLR2. PLoS One 7: e47740.

Wang Y, Zhu S, Weisman GA, Gitlin JD, Petris MJ. 2012. Conditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesis. PLoS One 7: e43039.

Peng Y, Clark C, Luong R, Tu WH, Lee J, Johnson DT, Das A, Carroll TJ, Sun Z. 2011. The leucine zipper putative tumor suppressor 2 protein LZTS2 regulates kidney development. J Biol Chem 286: 40331-40342.

Milosevic I, Giovedi S, Lou X, Raimondi A, Collesi C, Shen H, Paradise S, O’Toole E, Ferguson S, Cremona O, De Camilli P. 2011. Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fissionNeuron 72(4): 587-601.

Nielsen JA, Chambers MA, Romm E, Lee LY, Berndt JA, Hudson LD. 2011. Mouse transmembrane BAX inhibitor motif 3 (Tmbim3) encodes a 38 kDa transmembrane protein expressed in the central nervous system. Mol Cell Biochem 357: 73-81.

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Tsuboi K, Okamoto Y, Ikematsu N, Inoue M, Shimizu Y, Uyama T, Wang J, Deutsch DG, Burns MP, Ulloa NM, Tokumura A, Ueda N. 2011. Enzymatic formation of N-acylethanolamines from N-acylethanolamine plasmalogen through N-acylphosphatidylethanolamine-hydrolyzing phospholipase D-dependent and -independent pathways. Biochim Biophys Acta 1811: 565-577.

Chew LJ, Shen W, Ming X, Senatorov VV, Jr., Chen HL, Cheng Y, Hong E, Knoblach S, Gallo V. 2011. SRY-box containing gene 17 regulates the Wnt/beta-catenin signaling pathway in oligodendrocyte progenitor cells. J Neurosci 31: 13921-13935.

Sabharwal P, Lee C, Park S, Rao M, Sockanathan S. 2011. GDE2 regulates subtype-specific motor neuron generation through inhibition of Notch signalingNeuron 71(6): 1058-70.

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Wellner N, Tsuboi K, Madsen AN, Holst B, Diep TA, Nakao M, Tokumura A, Burns MP, Deutsch DG, Ueda N, Hansen HS. 2011. Studies on the anorectic effect of N-acylphosphatidylethanolamine and phosphatidylethanolamine in mice. Biochim Biophys Acta 1811: 508-512.

Parent AD, Cornwall GA, Liu LY, Smith CE, Hermo L. 2011. Alterations in the testis and epididymis associated with loss of function of the cystatin-related epididymal spermatogenic (CRES) protein. J Androl 32: 444-463.

Shridas P, Bailey WM, Talbott KR, Oslund RC, Gelb MH, Webb NR. 2011. Group X secretory phospholipase A2 enhances TLR4 signaling in macrophages. J Immunol 187: 482-489.

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Huang S, Ling JJ, Yang S, Li XJ, Li S. 2011. Neuronal expression of TATA box-binding protein containing expanded polyglutamine in knock-in mice reduces chaperone protein response by impairing the function of nuclear factor-Y transcription factor. Brain 134: 1943-1958.

Zubenko GS, Hughes HB, 3rd. 2011. Replacement of homologous mouse DNA sequence with pathogenic 6-base human CREB1 promoter sequence creates murine model of major depressive disorder. Am J Med Genet B Neuropsychiatr Genet 156B: 517-531.

Allen IC, Moore CB, Schneider M, Lei Y, Davis BK, Scull MA, Gris D, Roney KE, Zimmermann AG, Bowzard JB, Ranjan P, Monroe KM, Pickles RJ, Sambhara S, Ting JP. 2011. NLRX1 protein attenuates inflammatory responses to infection by interfering with the RIG-I-MAVS and TRAF6-NF-kappaB signaling pathways. Immunity 34: 854-865.

Ma X, Kumar M, Choudhury SN, Becker Buscaglia LE, Barker JR, Kanakamedala K, Liu MF, Li Y. 2011. Loss of the miR-21 allele elevates the expression of its target genes and reduces tumorigenesis. Proc Natl Acad Sci U S A 108: 10144-10149.

Kolesnikov AV, Rikimaru L, Hennig AK, Lukasiewicz PD, Fliesler SJ, Govardovskii VI, Kefalov VJ, Kisselev OG. 2011. G-protein betagamma-complex is crucial for efficient signal amplification in vision. J Neurosci 31: 8067-8077.

Chavali VR, Khan NW, Cukras CA, Bartsch DU, Jablonski MM, Ayyagari R. 2011. A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degenerationHum Mol Genet 20(10): 2000-14.

Bacchelli C, Buckland KF, Buckridge S, Salzer U, Schneider P, Thrasher AJ, Gaspar HB. 2011. The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice. J Allergy Clin Immunol 127: 1253-1259 e1213.

Fu Y, Westenbroek RE, Yu FH, Clark JP, 3rd, Marshall MR, Scheuer T, Catterall WA. 2011. Deletion of the distal C terminus of CaV1.2 channels leads to loss of beta-adrenergic regulation and heart failure in vivo. J Biol Chem 286: 12617-12626.

Templin AT, Maier B, Nishiki Y, Tersey SA, Mirmira RG. 2011. Deoxyhypusine synthase haploinsufficiency attenuates acute cytokine signaling. Cell Cycle 10: 1043-1049.

Rateri DL, Moorleghen JJ, Balakrishnan A, Owens AP, 3rd, Howatt DA, Subramanian V, Poduri A, Charnigo R, Cassis LA, Daugherty A. 2011. Endothelial cell-specific deficiency of Ang II type 1a receptors attenuates Ang II-induced ascending aortic aneurysms in LDL receptor-/- mice. Circ Res 108: 574-581.

Suzuki-Hirano A, Ogawa M, Kataoka A, Yoshida AC, Itoh D, Ueno M, Blackshaw S, Shimogori T. 2011. Dynamic spatiotemporal gene expression in embryonic mouse thalamusJ Comp Neurol 519(3): 528-43.

Verma S, Hoffmann FW, Kumar M, Huang Z, Roe K, Nguyen-Wu E, Hashimoto AS, Hoffmann PR. 2011. Selenoprotein K knockout mice exhibit deficient calcium flux in immune cells and impaired immune responses. J Immunol 186: 2127-2137.

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Lionnet T, Czaplinski K, Darzacq X, Shav-Tal Y, Wells AL, Chao JA, Park HY, de Turris V, Lopez-Jones M, Singer RH. 2011. A transgenic mouse for in vivo detection of endogenous labeled mRNA. Nat Methods 8: 165-170.

Jimenez T, McDermott JP, Sanchez G, Blanco G. 2011. Na,K-ATPase alpha4 isoform is essential for sperm fertility. Proc Natl Acad Sci U S A 108: 644-649.

Chau KM, Cornwall GA. 2011. Reduced fertility in vitro in mice lacking the cystatin CRES (cystatin-related epididymal spermatogenic): rescue by exposure of spermatozoa to dibutyryl cAMP and isobutylmethylxanthine. Biol Reprod 84: 140-152.

Xie Z, Cahill ME, Radulovic J, Wang J, Campbell SL, Miller CA, Sweatt JD, Penzes P. 2011. Hippocampal phenotypes in kalirin-deficient mice. Mol Cell Neurosci 46: 45-54.

Zack M, Boyanovsky BB, Shridas P, Bailey W, Forrest K, Howatt DA, Gelb MH, de Beer FC, Daugherty A, Webb NR. 2011. Group X secretory phospholipase A(2) augments angiotensin II-induced inflammatory responses and abdominal aortic aneurysm formation in apoE-deficient mice. Atherosclerosis 214: 58-64.

Liang J, Saad Y, Lei T, Wang J, Qi D, Yang Q, Kolattukudy PE, Fu M. 2010. MCP-induced protein 1 deubiquitinates TRAF proteins and negatively regulates JNK and NF-kappaB signaling. J Exp Med 207: 2959-2973.1

Gao X, Eladari D, Leviel F, Tew BY, Miro-Julia C, Cheema FH, Miller L, Nelson R, Paunescu TG, McKee M, Brown D, Al-Awqati Q. 2010. Deletion of hensin/DMBT1 blocks conversion of beta- to alpha-intercalated cells and induces distal renal tubular acidosis. Proc Natl Acad Sci U S A 107: 21872-21877.

Eckhardt ER, Witta J, Zhong J, Arsenescu R, Arsenescu V, Wang Y, Ghoshal S, de Beer MC, de Beer FC, de Villiers WJ. 2010. Intestinal epithelial serum amyloid A modulates bacterial growth in vitro and pro-inflammatory responses in mouse experimental colitis. BMC Gastroenterol 10: 133.

Slee EA, Benassi B, Goldin R, Zhong S, Ratnayaka I, Blandino G, Lu X. 2010. Phosphorylation of Ser312 contributes to tumor suppression by p53 in vivo. Proc Natl Acad Sci U S A 107: 19479-19484.

Ryazanova LV, Rondon LJ, Zierler S, Hu Z, Galli J, Yamaguchi TP, Mazur A, Fleig A, Ryazanov AG. 2010. TRPM7 is essential for Mg(2+) homeostasis in mammalsNat Commun 1: 109.

Xu X, Yang H, Lin YF, Li X, Cape A, Ressler KJ, Li S, Li XJ. 2010. Neuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB signaling with a depressive phenotype. Proc Natl Acad Sci U S A 107: 19126-19131.

de Beer MC, Webb NR, Wroblewski JM, Noffsinger VP, Rateri DL, Ji A, van der Westhuyzen DR, de Beer FC. 2010. Impact of serum amyloid A on high density lipoprotein composition and levels. J Lipid Res 51: 3117-3125.

Klover PJ, Muller WJ, Robinson GW, Pfeiffer RM, Yamaji D, Hennighausen L. 2010. Loss of STAT1 from mouse mammary epithelium results in an increased Neu-induced tumor burden. Neoplasia 12: 899-905.

Li X, Shridas P, Forrest K, Bailey W, Webb NR. 2010. Group X secretory phospholipase A2 negatively regulates adipogenesis in murine modelsFASEB J 24(11): 4313-24.

Chan YM, Keramaris-Vrantsis E, Lidov HG, Norton JH, Zinchenko N, Gruber HE, Thresher R, Blake DJ, Ashar J, Rosenfeld J, Lu QL. 2010. Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. Hum Mol Genet 19: 3995-4006.

Badadani M, Nalbandian A, Watts GD, Vesa J, Kitazawa M, Su H, Tanaja J, Dec E, Wallace DC, Mukherjee J, Caiozzo V, Warman M, Kimonis VE. 2010. VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease. PLoS One 5.

Shridas P, Bailey WM, Gizard F, Oslund RC, Gelb MH, Bruemmer D, Webb NR. 2010. Group X secretory phospholipase A2 negatively regulates ABCA1 and ABCG1 expression and cholesterol efflux in macrophagesArterioscler Thromb Vasc Biol 30(10): 2014-21.

Toyoda R, Assimacopoulos S, Wilcoxon J, Taylor A, Feldman P, Suzuki-Hirano A, Shimogori T, Grove EA. 2010. FGF8 acts as a classic diffusible morphogen to pattern the neocortex. Development 137: 3439-3448.

Chalaris A, Adam N, Sina C, Rosenstiel P, Lehmann-Koch J, Schirmacher P, Hartmann D, Cichy J, Gavrilova O, Schreiber S, Jostock T, Matthews V, Hasler R, Becker C, Neurath MF, Reiss K, Saftig P, Scheller J, Rose-John S. 2010. Critical role of the disintegrin metalloprotease ADAM17 for intestinal inflammation and regeneration in miceJ Exp Med 207(8): 1617-24.

Fairbridge NA, Dawe CE, Niri FH, Kooistra MK, King-Jones K, McDermid HE. 2010. Cecr2 mutations causing exencephaly trigger misregulation of mesenchymal/ectodermal transcription factors. Birth Defects Res A Clin Mol Teratol 88: 619-625.

Geva M, Cabilly Y, Assaf Y, Mindroul N, Marom L, Raini G, Pinchasi D, Elroy-Stein O. 2010. A mouse model for eukaryotic translation initiation factor 2B-leucodystrophy reveals abnormal development of brain white matter. Brain 133: 2448-2461.

Zhou Y, Cheunsuchon P, Nakayama Y, Lawlor MW, Zhong Y, Rice KA, Zhang L, Zhang X, Gordon FE, Lidov HG, Bronson RT, Klibanski A. 2010. Activation of paternally expressed genes and perinatal death caused by deletion of the Gtl2 gene. Development 137: 2643-2652.

Lim ST, Chen XL, Tomar A, Miller NL, Yoo J, Schlaepfer DD. 2010. Knock-in mutation reveals an essential role for focal adhesion kinase activity in blood vessel morphogenesis and cell motility-polarity but not cell proliferation. J Biol Chem 285: 21526-21536.

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Kushnir A, Shan J, Betzenhauser MJ, Reiken S, Marks AR. 2010. Role of CaMKIIdelta phosphorylation of the cardiac ryanodine receptor in the force frequency relationship and heart failure. Proc Natl Acad Sci U S A 107: 10274-10279.

Markert CD, Meaney MP, Voelker KA, Grange RW, Dalley HW, Cann JK, Ahmed M, Bishwokarma B, Walker SJ, Yu SX, Brown M, Lawlor MW, Beggs AH, Childers MK. 2010. Functional muscle analysis of the Tcap knockout mouse. Hum Mol Genet 19: 2268-2283.

Yang G, Wu L, Bryan S, Khaper N, Mani S, Wang R. 2010. Cystathionine gamma-lyase deficiency and overproliferation of smooth muscle cells. Cardiovasc Res 86: 487-495.

Bahrami J, Yusta B, Drucker DJ. 2010. ErbB activity links the glucagon-like peptide-2 receptor to refeeding-induced adaptation in the murine small bowel. Gastroenterology 138: 2447-2456.

Besnard V, Matsuzaki Y, Clark J, Xu Y, Wert SE, Ikegami M, Stahlman MT, Weaver TE, Hunt AN, Postle AD, Whitsett JA. 2010. Conditional deletion of Abca3 in alveolar type II cells alters surfactant homeostasis in newborn and adult mice. Am J Physiol Lung Cell Mol Physiol 298: L646-659.

Reidling JC, Lambrecht N, Kassir M, Said HM. 2010. Impaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient mice. Gastroenterology 138: 1802-1809.

Tornqvist G, Sandberg A, Hagglund AC, Carlsson L. 2010. Cyclic expression of lhx2 regulates hair formation. PLoS Genet 6: e1000904.

McCalmon SA, Desjardins DM, Ahmad S, Davidoff KS, Snyder CM, Sato K, Ohashi K, Kielbasa OM, Mathew M, Ewen EP, Walsh K, Gavras H, Naya FJ. 2010. Modulation of angiotensin II-mediated cardiac remodeling by the MEF2A target gene Xirp2. Circ Res 106: 952-960.

Gibb DR, El Shikh M, Kang DJ, Rowe WJ, El Sayed R, Cichy J, Yagita H, Tew JG, Dempsey PJ, Crawford HC, Conrad DH. 2010. ADAM10 is essential for Notch2-dependent marginal zone B cell development and CD23 cleavage in vivo. J Exp Med 207: 623-635.

Harashima A, Guettouche T, Barber GN. 2010. Phosphorylation of the NFAR proteins by the dsRNA-dependent protein kinase PKR constitutes a novel mechanism of translational regulation and cellular defense. Genes Dev 24: 2640-2653.

Herrmann R, Lobanova ES, Hammond T, Kessler C, Burns ME, Frishman LJ, Arshavsky VY. 2010. Phosducin regulates transmission at the photoreceptor-to-ON-bipolar cell synapse. J Neurosci 30: 3239-3253.

Fukata Y, Lovero KL, Iwanaga T, Watanabe A, Yokoi N, Tabuchi K, Shigemoto R, Nicoll RA, Fukata M. 2010. Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy. Proc Natl Acad Sci U S A 107: 3799-3804.

Jentarra GM, Olfers SL, Rice SG, Srivastava N, Homanics GE, Blue M, Naidu S, Narayanan V. 2010. Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation. BMC Neurosci 11: 19.

Howng SY, Avila RL, Emery B, Traka M, Lin W, Watkins T, Cook S, Bronson R, Davisson M, Barres BA, Popko B. 2010.  ZFP191 is required by oligodendrocytes for CNS myelination. Genes Dev 24: 301-311.

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Powers SE, Taniguchi K, Yen W, Melhuish TA, Shen J, Walsh CA, Sutherland AE, Wotton D. 2010. Tgif1 and Tgif2 regulate Nodal signaling and are required for gastrulation. Development 137: 249-259.1

Xie Z, Cahill ME, Penzes P. 2010. Kalirin loss results in cortical morphological alterations. Mol Cell Neurosci 43: 81-89.5

Zhang Y, Molday LL, Molday RS, Sarfare SS, Woodruff ML, Fain GL, Kraft TW, Pittler SJ. 2009. Knockout of GARPs and the beta-subunit of the rod cGMP-gated channel disrupts disk morphogenesis and rod outer segment structural integrity. J Cell Sci 122: 1192-1200.

Weinreich MA, Takada K, Skon C, Reiner SL, Jameson SC, Hogquist KA. 2009. KLF2 transcription-factor deficiency in T cells results in unrestrained cytokine production and upregulation of bystander chemokine receptors. Immunity 31: 122-130.

Uchimura A, Hidaka Y, Hirabayashi T, Hirabayashi M, Yagi T. 2009. DNA polymerase delta is required for early mammalian embryogenesis. PLoS One 4: e4184.

Saint Fleur S, Hoshino A, Kondo K, Egawa T, Fujii H. 2009. Regulation of Fas-mediated immune homeostasis by an activation-induced protein, Cyclon. Blood 114: 1355-1365.

Robling AG, Childress P, Yu J, Cotte J, Heller A, Philip BK, Bidwell JP. 2009. Nmp4/CIZ suppresses parathyroid hormone-induced increases in trabecular bone. J Cell Physiol 219: 734-743.

Miyagoe-Suzuki Y, Masubuchi N, Miyamoto K, Wada MR, Yuasa S, Saito F, Matsumura K, Kanesaki H, Kudo A, Manya H, Endo T, Takeda S. 2009. Reduced proliferative activity of primary POMGnT1-null myoblasts in vitro. Mech Dev 126: 107-116.

Liu J, Zhang H, Li Z, Hailemariam TK, Chakraborty M, Jiang K, Qiu D, Bui HH, Peake DA, Kuo MS, Wadgaonkar R, Cao G, Jiang XC. 2009. Sphingomyelin synthase 2 is one of the determinants for plasma and liver sphingomyelin levels in mice. Arterioscler Thromb Vasc Biol 29: 850-856.

Hoover RG, Gullickson G, Kornbluth J. 2009. Impaired NK cytolytic activity and enhanced tumor growth in NK lytic-associated molecule-deficient mice. J Immunol 183: 6913-6921.

Festing MH, Speer MY, Yang HY, Giachelli CM. 2009. Generation of mouse conditional and null alleles of the type III sodium-dependent phosphate cotransporter PiT-1. Genesis 47: 858-863.

Amleh A, Nair SJ, Sun J, Sutherland A, Hasty P, Li R. 2009. Mouse cofactor of BRCA1 (Cobra1) is required for early embryogenesis. PLoS One 4: e5034.

Zhang J, Li J, Huang C, Xue L, Peng Y, Fu Q, Gao L, Zhang J, Li W. 2008. Targeted knockout of the mouse betaB2-crystallin gene (Crybb2) induces age-related cataract. Invest Ophthalmol Vis Sci 49: 5476-5483.

Makino CL, Peshenko IV, Wen XH, Olshevskaya EV, Barrett R, Dizhoor AM. 2008. A role for GCAP2 in regulating the photoresponse. Guanylyl cyclase activation and rod electrophysiology in GUCA1B knock-out mice. J Biol Chem 283: 29135-29143.

Yang G, Wu L, Jiang B, Yang W, Qi J, Cao K, Meng Q, Mustafa AK, Mu W, Zhang S et al. 2008. H2S as a physiologic vasorelaxant: hypertension in mice with deletion of cystathionine gamma-lyase. Science 322: 587-590.

Maeda A, Maeda T, Golczak M, Palczewski K. 2008. Retinopathy in mice induced by disrupted all-trans-retinal clearance. J Biol Chem 283: 26684-26693.

Imanishi Y, Sun W, Maeda T, Maeda A, Palczewski K. 2008. Retinyl ester homeostasis in the adipose differentiation-related protein-deficient retina. J Biol Chem 283: 25091-25102.

Nikonov SS, Brown BM, Davis JA, Zuniga FI, Bragin A, Pugh EN, Jr., Craft CM. 2008. Mouse cones require an arrestin for normal inactivation of phototransduction. Neuron 59(3): 462-74.

Hailemariam TK, Huan C, Liu J, Li Z, Roman C, Kalbfeisch M, Bui HH, Peake DA, Kuo MS, Cao G, Wadgaonkar R, Jiang XC. 2008. Sphingomyelin synthase 2 deficiency attenuates NFkappaB activation. Arterioscler Thromb Vasc Biol 28: 1519-1526.

Suzuki Y, Kovacs CS, Takanaga H, Peng JB, Landowski CP, Hediger MA. 2008. Calcium channel TRPV6 is involved in murine maternal-fetal calcium transport. J Bone Miner Res 23: 1249-1256.

Luke Y, Zaim H, Karakesisoglou I, Jaeger VM, Sellin L, Lu W, Schneider M, Neumann S, Beijer A, Munck M, Padmakumar VC, Gloy J, Walz G, Noegel AA. 2008. Nesprin-2 Giant (NUANCE) maintains nuclear envelope architecture and composition in skin. J Cell Sci 121: 1887-1898.

Nakashima A, Kawamoto T, Honda KK, Ueshima T, Noshiro M, Iwata T, Fujimoto K, Kubo H, Honma S, Yorioka N,Kohno N, Kato Y. 2008. DEC1 modulates the circadian phase of clock gene expression. Mol Cell Biol 28: 4080-4092.

Arikketh D, Nelson R, Vance JE. 2008. Defining the importance of phosphatidylserine synthase-1 (PSS1): unexpected viability of PSS1-deficient mice. J Biol Chem 283: 12888-12897.

Joesting MS, Cheever TR, Volzing KG, Yamaguchi TP, Wolf V, Naf D, Rubin JS, Marker PC. 2008. Secreted frizzled related protein 1 is a paracrine modulator of epithelial branching morphogenesis, proliferation, and secretory gene expression in the prostate. Dev Biol 317: 161-173.

Golczak M, Maeda A, Bereta G, Maeda T, Kiser PD, Hunzelmann S, von Lintig J, Blaner WS, Palczewski K. 2008. Metabolic basis of visual cycle inhibition by retinoid and nonretinoid compounds in the vertebrate retinaJ Biol Chem 283(15): 9543-54.

Monks J, Smith-Steinhart C, Kruk ER, Fadok VA, Henson PM. 2008. Epithelial cells remove apoptotic epithelial cells during post-lactation involution of the mouse mammary gland. Biol Reprod 78: 586-594.

Jordan MS, Smith JE, Burns JC, Austin JE, Nichols KE, Aschenbrenner AC, Koretzky GA. 2008. Complementation in trans of altered thymocyte development in mice expressing mutant forms of the adaptor molecule SLP76. Immunity 28: 359-369.

Edwin F, Patel TB. 2008. A novel role of Sprouty 2 in regulating cellular apoptosis. J Biol Chem 283: 3181-3190.

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Anderson GR, Lujan R, Semenov A, Pravetoni M, Posokhova EN, Song JH, Uversky V, Chen CK, Wickman K, Martemyanov KA. 2007. Expression and localization of RGS9-2/G 5/R7BP complex in vivo is set by dynamic control of its constitutive degradation by cellular cysteine proteases. J Neurosci 27: 14117-14127.

Baertschi S, Zhuang L, Trueb B. 2007. Mice with a targeted disruption of the Fgfrl1 gene die at birth due to alterations in the diaphragm. FEBS J 274: 6241-6253.

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Ding C, Liu Y, Wang Y, Park BK, Wang CY, Zheng P, Liu Y. 2007. Siglecg limits the size of B1a B cell lineage by down-regulating NFkappaB activation. PLoS One 2: e997.

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Chen H, McCaffery JM, Chan DC. 2007. Mitochondrial fusion protects against neurodegeneration in the cerebellum. Cell 130: 548-562.

Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V. 2007. Filamin B mutations cause chondrocyte defects in skeletal development. Hum Mol Genet 16: 1661-1675.

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