Results 31 to 40 of about 1,506,675 (236)

Generation of gene edited hiPSC from familial Alzheimer's disease patient carrying N141I missense mutation in presenilin 2

Stem Cell Research, 2021
Alzheimer's disease (AD) is the major cause of dementia worldwide. Early-onset familial AD accounts for about 0.5% of all AD and is caused by single major gene mutations and autosomal dominant inheritance.
Hany E. Marei, Asmaa Althani, Nahla Afifi, Anwarul Hasan, Thomas Caceci, Giacomo Pozzoli, Carlo Cenciarelli   +6 more
doaj  

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]

, 2015
Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE, CAPUTO, VIVIANA, Castori, M, D'ANGELANTONIO, DANIELA, De Bernardo, C, Giannarelli, D, GRAMMATICO, Paola, LIPARI, MARTINA, Majore, S, PAIARDINI, ALESSANDRO, PIZZUTI, Antonio, Re, F, Zachara, E   +12 more
core   +1 more source

FBXW7 missense mutation: a novel negative prognostic factor in metastatic colorectal adenocarcinoma

OncoTarget, 2017
Background FBXW7 functions as a ubiquitin ligase tagging multiple dominant oncogenic proteins and commonly mutates in colorectal cancer. Data suggest missense mutations lead to greater loss of FBXW7 function than other gene aberrations do.
Krittiya Korphaisarn, V. Morris, M. Overman, D. Fogelman, B. Kee, Raghav Kanwal Pratap Singh, Shanequa Manuel, I. Shureiqi, R. Wolff, C. Eng, D. Menter, S. Hamilton, S. Kopetz, A. Dasari   +13 more
semanticscholar   +1 more source

A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort [PDF]

, 2016
Sequencing of sarcomere protein genes in patients fulfilling the clinical diagnostic criteria for hypertrophic cardiomyopathy (HCM) identifies a disease-causing mutation in 35% to 60% of cases.
Autore, Camillo, Bozzao, Cristina, Chessa, Luciana, Francia, Pietro, Germani, Aldo, Musumeci, Maria Beatrice, Pagannone, Erika, Pennacchini, Ermelinda, Piane, Maria, Rubattu, Speranza, Savio, Camilla, Volpe, Massimo   +11 more
core   +1 more source

A novel mutation in the tropomyosin 1 gene in a Chinese patient with hypertrophic cardiomyopathy

All Life, 2022
Hypertrophic cardiomyopathy (HCM) is an inherited heart disease characterized by left ventricular hypertrophy. Although sarcomeric gene mutations can explain many HCM cases, the genetic basis of approximately half of HCM cases remains elusive.
Ke Gong, Qin Wu, Ting Xie, Yong Luo, Hui Guo, Zhiping Tan, Jinlan Chen, Yifeng Yang, Li Xie   +8 more
doaj   +1 more source

Deriving a mutation index of carcinogenicity using protein structure and protein interfaces [PDF]

, 2014
With the advent of Next Generation Sequencing the identification of mutations in the genomes of healthy and diseased tissues has become commonplace.
A Custodio, A David, A Dixit, A Hamosh, A Pal, AJ Bass, Anna Tramontano, B Reva, B Vogelstein, CJ Richardson, CM Croce, D Chasman, D Sims, D Talavera, D Xu, E Krissinel, EC Chao, ER Mardis, F Damm, Frances Pearl, G Birrane, G De Baets, H Boutselakis, H Carter, H Makishima, IA Adzhubei, IS Moreira, J Carlsson, Jarle Hakas, JM Hurst, JM Izarzugaza, JR Morris, K Wang, Konstantinos Mitsopoulos, L Breiman, L Ding, M Li, M Magrane, Marketa Zvelebil, MR Stratton, MR Stratton, MS Greenblatt, MW MacArthur, MY Frederic, Octavio Espinosa, P Flicek, P Kumar, P Srivastava, PA Chan, PA Futreal, PB Crowley, PC Ng, PC Ng, PD Stenson, PH Lee, PT Wan, PV Hornbeck, PY Chou, R Ferla, R Rajasekaran, RJ Kinsella, S Jones, S Sunyaev, S Velankar, SA Forbes, TM Anne, V Ramensky, W Huang da, W Kabsch, X Wang, X Wang, Y Bromberg   +71 more
core   +4 more sources

Nonsense and missense mutation of mitochondrial ND6 gene promotes cell migration and invasion in human lung adenocarcinoma

BMC Cancer, 2015
BackgroundPrevious study showed that mitochondrial ND6 (mitND6) gene missense mutation resulted in NADH dehydrogenase deficiency and was associated with tumor metastasis in several mouse tumor cell lines.
Yang Yuan, Weixing Wang, Hui-Zi Li, Yongwei Yu, Jing Tao, Sheng-dong Huang, Zhiyong Zeng   +6 more
semanticscholar   +1 more source

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report [PDF]

, 2018
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Bottillo, I, Han, Y, Lang, Y, Liu, X, Shao, L., Wang, J, Wang, Q, Zhang, R   +7 more
core   +2 more sources

A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.

Journal of the American Society of Nephrology, 2015
FSGS is a clinical disorder characterized by focal scarring of the glomerular capillary tuft, podocyte injury, and nephrotic syndrome. Although idiopathic forms of FSGS predominate, recent insights into the molecular and genetic causes of FSGS have ...
G. Hall, R. Gbadegesin, P. Lavin, Guanghong Wu, Yangfan P. Liu, Edwin C. T. Oh, Liming Wang, R. Spurney, Jason Eckel, Thomas Lindsey, Alison Homstad, Andrew F. Malone, P. Phelan, A. Shaw, D. Howell, P. Conlon, N. Katsanis, M. Winn   +17 more
semanticscholar   +1 more source

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship

Haematologica, 2010
Background The most frequent form of congenital dyserythropoietic anemia is the type II form. Recently it was shown that the vast majority of patients with congenital dyserythropoietic anemia type II carry mutations in the SEC23B gene.
Achille Iolascon, Roberta Russo, Maria Rosaria Esposito, Roberta Asci, Carmelo Piscopo, Silverio Perrotta, Madeleine Fénéant-Thibault, Loïc Garçon, Jean Delaunay   +8 more
doaj   +1 more source