Results 21 to 30 of about 244,475 (288)

A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

BMC Medical Genetics, 2018
Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with ...
Xing Wu, Lanlan Chen, Yixin Zhang, Hainan Xie, Meirong Xue, Yi Wang, Houbin Huang   +6 more
doaj   +1 more source

MoKCa database - mutations of kinases in cancer [PDF]

, 2009
Members of the protein kinase family are amongst the most commonly mutated genes in human cancer, and both mutated and activated protein kinases have proved to be tractable targets for the development of new anticancer therapies The MoKCa database ...
Alfarano, Altschul, Berman, Braconi Quintaje, Bruford, Burnworth, Chatr-aryamontri, Christopher J. Richardson, Clifford, Costas Mitsopoulous, Daley, Diella, Fernández, Finn, Flicek, Forbes, Frances M. G. Pearl, Gene Ontology Consortium, Greenman, Greenman, Hanahan, Hulo, Kaminker, Kaminker, Kerrien, Koorstra, Lappalainen, Laurence H. Pearl, Letunic, Manning, Marketa Zvelebil, Mishra, Ng, O'Brien, Ortutay, Pagel, Pearl, Qiong Gao, Sawyers, Sjöblom, Stark, Torkamani, UniProt Consortium, Vastrik, Velankar, Wheeler, Wood, Yeats   +47 more
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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients [PDF]

, 2009
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha ...
Ali-Pacha, L, Anheim, M, Arning, L, Barbot, C, Benhassine, T, Brice, A, Chabrol, B, Charles, P, Chbicheb, M, Coutinho, P, De Bleecker, Jan, Delaunoy, JP, Drouot, N, Durr, A, Fleury, M, Fritsch, M, Gazulla, J, Goizet, C, Hamri, A, Koenig, M, Koht, J, Le Ber, I, M'Zahem, A, Marelli, C, Monga, B, Mukhtar, M, Murphy, R, Pouget, J, Salih, M, Schols, L, Sequeiros, J, Synofzik, M, Tazir, M, Tranchant, C, Watanabe, M   +34 more
core   +1 more source

A missense mutation in ISPD contributes to maintain muscle fiber stability

Poultry Science, 2022
: Background: Livestock and poultry skeletal muscle development was regulated by a variety of genetic factors playing an essential role in this process.
Lijin Guo, Siyu Zhang, Yibin Xu, Yulin Huang, Wei Luo, Qi Wen, Guanxuan Liu, Weiling Huang, Haiping Xu, Biao Chen, Qinghua Nie   +10 more
doaj  

Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity [PDF]

, 2003
We initially performed a mutation screen of the coding region of the MC4R in 808 extremely obese children and adolescents and 327 underweight or normal-weight controls allowing for a case-control study.
Anke Hinney, Anne-Kathrin Wermter, Britta Brokamp, Brocke, Claudia Hess, Cody, Constanze Vogel, Dubern, Farooqi, Frank Geller, Gotoda, Gu, Hanspeter Goldschmidt, Hebebrand, Hebebrand, Helmut Remschmidt, Helmut Schäfer, Hinney, Hirschhorn, Ho, Jacobson, Johannes Hebebrand, Katzmarzyk, Kobayashi, Lubrano-Berthelier, Mergen, Milligan, Milligan, Miraglia Del Giudice, Neel, Ohshiro, Salomon, Sarah Hohmann, Sina, Spielman, Stunkard, Thomas Gudermann, Vaisse, Vaisse, Wolfgang Siegfried, Yeo   +40 more
core   +1 more source

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

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