Results 41 to 50 of about 241,061 (333)

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

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  

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption [PDF]

, 2009
Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder which is characterized by impaired intestinal folate malabsorption and impaired folate transport into the central nervous system.
Borzutzky, Eamonn R. Maher, Esther Meyer, Geller, Jakubowski, Lasry, Manju A. Kurian, Min, Qiu, Richard C. Trembath, Shanaz Pasha, Stover, Trevor Cole, Zhao, Zhao, Zhao   +15 more
core   +2 more sources

Characterization and prognostic value of mutations in exons 5 and 6 of the p53 gene in patients with colorectal cancers in central Iran [PDF]

, 2013
Background/Aims: We aimed to investigate the relation-ships among various mutations of the p53 gene and their protein products, histological characteristics, and disease prognosis of primary colorectal cancer in Isfahan, central Iran.
Anwar, Bazan, Carson, Chang, Chang, Coombs, Cunningham, Derakhshan, Diez, Duffy, Erster, Gryfe, Hollstein, Jemal, Karsa, Kato, Lam, Leahy, Levine, Lim, Mahdavinia, Markowitz, Mehdi Nikbakht, Mohammad H. Derakhshan, Mohammad J. Namazi, Mohammad Salehi, Molleví, Mousavi, Munro, Nasierowska-Guttmejer, Nunes, Pan, Rahim Golmohammadi, Rogel, Russo, Ryan, Sadjadi, Schmitt, Slattery, Tang, Theodoropoulos, Tominaga, Vogelstein, Yamashita, Yee, Zhang, Zhao   +46 more
core   +1 more source

GJC2 Missense Mutations Cause Human Lymphedema [PDF]

The American Journal of Human Genetics, 2010
Lymphedema is the clinical manifestation of defects in lymphatic structure or function. Mutations identified in genes regulating lymphatic development result in inherited lymphedema. No mutations have yet been identified in genes mediating lymphatic function that result in inherited lymphedema.
Robert E. Ferrell, Mark A. Kimak, Catherine J. Baty, David N. Finegold, Elizabeth C. Lawrence, Stephen D. Meriney, Eleanor Feingold, Marlise Franke-Snyder, Jenny M. Karlsson   +8 more
openaire   +3 more sources

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

Impact of missense mutations on biosynthesis of myeloperoxidase

Redox Report, 2000
We have examined the biosynthesis of normal and mutant forms of myeloperoxidase (MPO) in order to gain insights into the critical features of normal biogenesis of MPO. The expression of wild-type and mutant forms of MPO in a stably transfected cell line devoid of endogenous MPO as well as in established human promyelocytic cell lines has allowed ...
William M. Nauseef, Melissa Goedken, Sally McCormick   +2 more
openaire   +3 more sources

Analyses of a Novel L130F Missense Mutation in FOXC1 [PDF]

Archives of Ophthalmology, 2007
To understand how the novel L130F mutation, found in 2 patients with Axenfeld-Rieger syndrome, disrupts function of the forkhead box C1 protein (FOXC1).Sequencing DNA from patients with Axenfeld-Rieger syndrome identified a novel missense mutation that results in an L130F substitution in the FOXC1 gene.
Ito, Yoko A., Footz, Tim K., Murphy, Tara C., Courtens, Winnie, Walter, Michael A.   +4 more
openaire   +3 more sources

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

Germline and Somatic DNA Damage Repair Gene Mutations and Overall Survival in Metastatic Pancreatic Adenocarcinoma Patients Treated with FOLFIRINOX [PDF]

, 2018
Purpose: Pancreatic ductal adenocarcinoma (PDAC) is a lethal cancer with lack of predictive biomarkers. We conducted a study to assess DNA damage repair (DDR) gene mutations as a predictive biomarker in PDAC patients treated with FOLFIRINOX ...
Gbolahan, Olumide, Hancock, Brad A., O'Neil, Bert H., Radovich, Milan, Sehdev, Amikar, Shahda, Safi, Stanley, Melissa, Wan, Jun, Wu, Howard H.   +8 more
core   +1 more source