Results 61 to 70 of about 1,506,824 (383)

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

A method and server for predicting damaging missense mutations [PDF]

Nature Methods, 2010
To the Editor: Applications of rapidly advancing sequencing technologies exacerbate the need to interpret individual sequence variants. Sequencing of phenotyped clinical subjects will soon become a method of choice in studies of the genetic causes of Mendelian and complex diseases.
Anna Gerasimova, Peer Bork, Alexey S. Kondrashov, Leonid Peshkin, Vasily Ramensky, Steffen Schmidt, Ivan Adzhubei, Shamil R. Sunyaev   +7 more
openaire   +2 more sources

CINCA Syndrome With New NLRP3 Mutation and Unreported Complication of Thyroid Carcinoma

Clinical Medicine Insights: Case Reports, 2019
Background: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) is the most severe phenotype of cryopyrin-associated periodic syndromes (CAPS) and is caused by a missense mutation in NLRP3 gene.
Farhad Salehzadeh, Manuchehr Barak, Saied Hosseiniasl, Ehsan Shahbazfar   +3 more
doaj   +1 more source

Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: A case report [PDF]

, 2018
Background: Sixty mutations of claudin 16 coding gene have been reported in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent investigations revealed that a highly conserved glycine-leucine-tryptophan (115G-L-W117)
Bottillo, I, Lang, Y, Lu, J, Paiardini, A, Shao, L, Zhao, X   +5 more
core   +1 more source

Bioinformatics Profiling Of Missense Mutations

, 2009
The ability to distinguish missense nucleotide substitutions that contribute to harmful effect from those that do not is a difficult problem usually accomplished through functional in vivo analyses. In this study, instead current biochemical methods, the effects of missense mutations upon protein structure and function were assayed by means of ...
I. Nassiri, B. Goliaei, M. Tavassoli
openaire   +1 more source

Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient

Pediatric Investigation, 2020
Introduction Congenital ichthyosiform erythroderma (CIE ) is characterized by fine, whitish scales on a background of erythematous skin over the whole body; it is reportedly caused by mutations in ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1 ...
Zhou Yang, Zhan Qi, Zhe Xu, Wei Li, Lin Ma   +4 more
doaj   +1 more source

Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability

Italian Journal of Pediatrics, 2020
Background MED13L-related intellectual disability is a new syndrome that is characterized by intellectual disability (ID), motor developmental delay, speech impairment, hypotonia and facial dysmorphism.
Zhi Yi, Ying Zhang, Zhenfeng Song, Hong Pan, Chengqing Yang, Fei Li, Jiao Xue, Zhenghai Qu   +7 more
doaj   +1 more source

A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

BMC Pediatrics, 2021
Background Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de novo nonsynonymous coding variants
Qingyun Kang, Liming Yang, Hongmei Liao, Sai Yang, Xiaojun Kuang, Zeshu Ning, Caishi Liao, Bo Chen   +7 more
doaj   +1 more source

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency

Frontiers in Immunology, 2021
Rare autosomal-recessive variants in tetratricopeptide repeat domain 7A (TTC7A) gene have been shown to cause intestinal and immune disorders of variable severity.
Wenjun Mou, Shen Yang, Ruolan Guo, Libing Fu, Li Zhang, Weihong Guo, Jingbin Du, Jianxin He, Qinghua Ren, Chanjuan Hao, Jingang Gui, Jinshi Huang   +11 more
doaj   +1 more source

Noncatalytic PTEN missense mutation predisposes to organ-selective cancer development in vivo

Genes & Development, 2015
Caserta et al. generated and analyzed Pten knock-in mice harboring a C2 domain missense mutation at phenylalanine 341 (PtenFV), found in human cancer.
Enrico Caserta, O. Egriboz, Hui Wang, Chelsea K Martin, C. Koivisto, T. Pécot, R. Kladney, Changxian Shen, K. Shim, Thac Pham, Matthew K. Karikomi, Melissa J Mauntel, S. Majumder, M. Cuitiño, Xing Tang, Arunima Srivastava, Lianbo Yu, J. Wallace, X. Mo, Morag Park, S. Fernandez, R. Pilarski, K. L. La Perle, T. Rosol, V. Coppola, D. Castrillon, C. Timmers, D. Cohn, D. O’Malley, F. Backes, A. Súarez, P. Goodfellow, H. Chamberlin, Erin R. Macrae, C. Shapiro, Michael C. Ostrowski, G. Leone   +36 more
semanticscholar   +1 more source