Found 26 results
Filters: Keyword is Phenotype  [Clear All Filters]
2018
Zhang YM, Zimmer MA, Guardia T, Callahan SJ, Mondal C, Di Martino J, Takagi T, Fennell M, Garippa R, Campbell NR et al..  2018.  Distant Insulin Signaling Regulates Vertebrate Pigmentation through the Sheddase Bace2.. Dev Cell. 45(5):580-594.e7.
Cheng-Hathaway PJ, Reed-Geaghan EG, Jay TR, Casali BT, Bemiller SM, Puntambekar SS, von Saucken VE, Williams RY, J Karlo C, Moutinho M et al..  2018.  The Trem2 R47H variant confers loss-of-function-like phenotypes in Alzheimer's disease.. Mol Neurodegener. 13(1):29.
2017
Bertini V, Orsini A, Mazza R, Mandava V, Saggese G, Azzara' A, Bonuccelli A, Valetto A.  2017.  A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI.. Am J Med Genet A. 173(1):280-284.
Dickens AM, Yoo SWan, Chin AC, Xu J, Johnson TP, Trout AL, Hauser KF, Haughey NJ.  2017.  Chronic low-level expression of HIV-1 Tat promotes a neurodegenerative phenotype with aging.. Sci Rep. 7(1):7748.
Angell TE, Vyas CM, Medici M, Wang Z, Barletta JA, Benson CB, Cibas ES, Cho NL, Doherty GM, Doubilet PM et al..  2017.  Differential Growth Rates of Benign vs. Malignant Thyroid Nodules.. J Clin Endocrinol Metab. 102(12):4642-4647.
Henrich TJ, Hatano H, Bacon O, Hogan LE, Rutishauser R, Hill A, Kearney MF, Anderson EM, Buchbinder SP, Cohen SE et al..  2017.  HIV-1 persistence following extremely early initiation of antiretroviral therapy (ART) during acute HIV-1 infection: An observational study.. PLoS Med. 14(11):e1002417.
Windrem MS, Osipovitch M, Liu Z, Bates J, Chandler-Militello D, Zou L, Munir J, Schanz S, McCoy K, Miller RH et al..  2017.  Human iPSC Glial Mouse Chimeras Reveal Glial Contributions to Schizophrenia.. Cell Stem Cell. 21(2):195-208.e6.
Pirhaji L, Milani P, Dalin S, Wassie BT, Dunn DE, Fenster RJ, Avila-Pacheco J, Greengard P, Clish CB, Heiman M et al..  2017.  Identifying therapeutic targets by combining transcriptional data with ordinal clinical measurements.. Nat Commun. 8(1):623.
Kim S, Kim H, Yim YShin, Ha S, Atarashi K, Tan TGuan, Longman RS, Honda K, Littman DR, Choi GB et al..  2017.  Maternal gut bacteria promote neurodevelopmental abnormalities in mouse offspring.. Nature. 549(7673):528-532.
DeBerge M, Yeap XYi, Dehn S, Zhang S, Grigoryeva L, Misener S, Procissi D, Zhou X, Lee DC, Muller WA et al..  2017.  MerTK Cleavage on Resident Cardiac Macrophages Compromises Repair After Myocardial Ischemia Reperfusion Injury.. Circ Res. 121(8):930-940.
Hosono N, Makishima H, Mahfouz R, Przychodzen B, Yoshida K, Jerez A, LaFramboise T, Polprasert C, Clemente MJ, Shiraishi Y et al..  2017.  Recurrent genetic defects on chromosome 5q in myeloid neoplasms.. Oncotarget. 8(4):6483-6495.
2016
Chinen T, Kannan AK, Levine AG, Fan X, Klein U, Zheng Y, Gasteiger G, Feng Y, Fontenot JD, Rudensky AY.  2016.  An essential role for the IL-2 receptor in T cell function.. Nat Immunol. 17(11):1322-1333.
D'Alessandro LCA, Turki SAl, Manickaraj AKumar, Manase D, Mulder BJM, Bergin L, Rosenberg HC, Mondal T, Gordon E, Lougheed J et al..  2016.  Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.. Genet Med. 18(2):189-98.
Simsek S, Zhou T, Robinson CL, Tsai S-Y, Crespo M, Amin S, Lin X, Hon J, Evans T, Chen S.  2016.  Modeling Cystic Fibrosis Using Pluripotent Stem Cell-Derived Human Pancreatic Ductal Epithelial Cells.. Stem Cells Transl Med. 5(5):572-9.
Azzopardi S, Pang S, Klimstra DS, Du Y-CNancy.  2016.  p53 and p16/p19 Loss Promotes Different Pancreatic Tumor Types from PyMT-Expressing Progenitor Cells.. Neoplasia. 18(10):610-617.
Marin EP, Jozsef L, Di Lorenzo A, Held KF, Luciano AK, Melendez J, Milstone LM, Velazquez H, Sessa WC.  2016.  The Protein Acyl Transferase ZDHHC21 Modulates α1 Adrenergic Receptor Function and Regulates Hemodynamics.. Arterioscler Thromb Vasc Biol. 36(2):370-9.
2015
Ross JB, Huh D, Noble LB, Tavazoie SF.  2015.  Identification of molecular determinants of primary and metastatic tumour re-initiation in breast cancer.. Nat Cell Biol. 17(5):651-64.
Liu Z, Gerner MY, Van Panhuys N, Levine AG, Rudensky AY, Germain RN.  2015.  Immune homeostasis enforced by co-localized effector and regulatory T cells.. Nature. 528(7581):225-30.
Ge R-L, Simonson TS, Gordeuk V, Prchal JT, McClain DA.  2015.  Metabolic aspects of high-altitude adaptation in Tibetans.. Exp Physiol. 100(11):1247-55.
2014
Hurwitz ME.  2014.  Clonal screens to find modifiers of partially penetrant phenotypes in C. elegans.. Methods Mol Biol. 1176:157-67.
González F, Zhu Z, Shi Z-D, Lelli K, Verma N, Li QV, Huangfu D.  2014.  An iCRISPR platform for rapid, multiplexable, and inducible genome editing in human pluripotent stem cells.. Cell Stem Cell. 15(2):215-226.
2013
Kim SG, Jung JB, Dixit D, Rovner R, Zack JA, Baldwin GC, Vatakis DN.  2013.  Cocaine exposure enhances permissiveness of quiescent T cells to HIV infection.. J Leukoc Biol. 94(4):835-43.
2012
Zhou D, Chen Y-T, Chen F, Gallup M, Vijmasi T, Bahrami AF, Noble LB, van Rooijen N, McNamara NA.  2012.  Critical involvement of macrophage infiltration in the development of Sjögren's syndrome-associated dry eye.. Am J Pathol. 181(3):753-60.
Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan W-M, Andrews C, Chew S, Jamieson RV et al..  2012.  An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.. Hum Mol Genet. 21(26):5484-99.
2011
Tischfield MA, Cederquist GY, Gupta ML, Engle EC.  2011.  Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.. Curr Opin Genet Dev. 21(3):286-94.