Found 16 results
Filters: Keyword is Mutation, Missense  [Clear All Filters]
2018
Knauf JA, Luckett KA, Chen K-Y, Voza F, Socci ND, Ghossein R, Fagin JA.  2018.  Hgf/Met activation mediates resistance to BRAF inhibition in murine anaplastic thyroid cancers.. J Clin Invest. 128(9):4086-4097.
Guiberson NGuy Lewis, Pineda A, Abramov D, Kharel P, Carnazza KE, Wragg RT, Dittman JS, Burré J.  2018.  Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones.. Nat Commun. 9(1):3986.
Boisson-Dupuis S, Ramirez-Alejo N, Li Z, Patin E, Rao G, Kerner G, Lim CKang, Krementsov DN, Hernandez N, Ma CS et al..  2018.  Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant.. Sci Immunol. 3(30)
2017
Sirkis DW, Aparicio RE, Schekman R.  2017.  Neurodegeneration-associated mutant TREM2 proteins abortively cycle between the ER and ER-Golgi intermediate compartment.. Mol Biol Cell. 28(20):2723-2733.
Anelli V, Villefranc JA, Chhangawala S, Martinez-McFaline R, Riva E, Nguyen A, Verma A, Bareja R, Chen Z, Scognamiglio T et al..  2017.  Oncogenic BRAF disrupts thyroid morphogenesis and function via twist expression.. Elife. 6
Weinberg DN, C Allis D, Lu C.  2017.  Oncogenic Mechanisms of Histone H3 Mutations.. Cold Spring Harb Perspect Med. 7(1)
Lipstein N, Verhoeven-Duif NM, Michelassi FE, Calloway N, van Hasselt PM, Pienkowska K, van Haaften G, van Haelst MM, van Empelen R, Cuppen I et al..  2017.  Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.. J Clin Invest. 127(3):1005-1018.
2015
Dettmer U, Newman AJ, Soldner F, Luth ES, Kim NC, von Saucken VE, Sanderson JB, Jaenisch R, Bartels T, Selkoe D.  2015.  Parkinson-causing α-synuclein missense mutations shift native tetramers to monomers as a mechanism for disease initiation.. Nat Commun. 6:7314.
2014
Rampal R, Ahn J, Abdel-Wahab O, Nahas M, Wang K, Lipson D, Otto GA, Yelensky R, Hricik T, McKenney ASophia et al..  2014.  Genomic and functional analysis of leukemic transformation of myeloproliferative neoplasms.. Proc Natl Acad Sci U S A. 111(50):E5401-10.
Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM et al..  2014.  Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.. Cell. 157(3):636-50.
2013
Wang H-Y, Ma CA, Zhao Y, Fan X, Zhou Q, Edmonds P, Uzel G, Oliveira JBosco, Orange J, Jain A.  2013.  Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK.. Proc Natl Acad Sci U S A. 110(13):5127-32.
McKenney ASophia, Levine RL.  2013.  Isocitrate dehydrogenase mutations in leukemia.. J Clin Invest. 123(9):3672-7.
Snyder EL, Watanabe H, Magendantz M, Hoersch S, Chen TA, Wang DG, Crowley D, Whittaker CA, Meyerson M, Kimura S et al..  2013.  Nkx2-1 represses a latent gastric differentiation program in lung adenocarcinoma.. Mol Cell. 50(2):185-99.
Chiorazzi M, Rui L, Yang Y, Ceribelli M, Tishbi N, Maurer CW, Ranuncolo SM, Zhao H, Xu W, Chan W-CC et al..  2013.  Related F-box proteins control cell death in Caenorhabditis elegans and human lymphoma.. Proc Natl Acad Sci U S A. 110(10):3943-8.
2012
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.