Results 41 to 50 of about 239,120 (310)

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

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  

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

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 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

Deciphering the Language of Nature: A transformer-based language model for deleterious mutations in proteins [PDF]

arXiv, 2021
Various machine-learning models, including deep neural network models, have already been developed to predict deleteriousness of missense (non-synonymous) mutations. Potential improvements to the current state of the art, however, may still benefit from a fresh look at the biological problem using more sophisticated self-adaptive machine-learning ...
arxiv  

Preliminary Report: Missense mutations in the APOL gene family are associated with end stage kidney disease risk previously attributed to the MYH9 gene [PDF]

Human Genetics, July 16 2010, 2010
MYH9 has been proposed as a major genetic risk locus for a spectrum of non-diabetic end stage kidney disease (ESKD). We use recently released sequences from the 1000 Genomes Project to identify two western African specific missense mutations (S342G and I384M) in the neighbouring APOL1 gene, and demonstrate that these are more strongly associated with ...
arxiv   +1 more source

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

Rare missense mutations in P2RY11 in narcolepsy with cataplexy [PDF]

Brain, 2017
The sleep disorder narcolepsy with cataplexy is characterized by a highly specific loss of hypocretin (orexin) neurons, leading to the hypothesis that the condition is caused by an immune or autoimmune mechanism. All genetic variants associated with narcolepsy are immune-related. Among these are single nucleotide polymorphisms in the P2RY11-EIF3G locus.
Degn, Matilda, Dauvilliers, Yves, Dreisig, Karin, Lopez, Régis, Pfister, Corinne, Pradervand, Sylvain, Rahbek Kornum, Birgitte, Tafti, Mehdi   +7 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