Results 41 to 50 of about 1,540,335 (330)

Experimental analysis of bladder cancer-associated mutations in EP300 identifies EP300-R1627W as a driver mutation

Molecular Medicine, 2023
Background Bladder cancer (BCa) is the most common malignant tumor of the urinary system, with transitional cell carcinoma (TCC) being the predominant type.
Mayao Luo, Yifan Zhang, Zhuofan Xu, Shidong Lv, Qiang Wei, Qiang Dang   +5 more
doaj   +1 more source

Contribution of MUTYH variants to male breast cancer risk: results from a multicenter study in Italy [PDF]

, 2018
Inherited mutations in BRCA1, and, mainly, BRCA2 genes are associated with increased risk of male breast cancer (MBC). Mutations in PALB2 and CHEK2 genes may also increase MBC risk.
Azzollini, Jacopo, Bianchi, Simonetta, Bonanni, Bernardo, Bucalo, Agostino, Calistri, Daniele, Catucci, Irene, Coppa, Anna, Cortesi, Laura, Manoukian, Siranoush, Masala, Giovanna, Montagna, Marco, Ottini, Laura, Palli, Domenico, Peterlongo, Paolo, Radice, Paolo, Rizzolo, Piera, Russo, Antonio, Silvestri, Valentina, Spinelli, Alessandro Mauro, Tibiletti, Maria Grazia, Tommasi, Stefania, Valentini, Virginia, Varesco, Liliana, Viel, Alessandra, Zanna, Ines, Zelli, Veronica   +25 more
core   +3 more sources

AHDC1 missense mutations in Xia-Gibbs syndrome

Human Genetics and Genomics Advances, 2021
Xia-Gibbs syndrome (XGS; MIM: 615829) is a phenotypically heterogeneous neurodevelopmental disorder (NDD) caused by newly arising mutations in the AT-Hook DNA-Binding Motif-Containing 1 (AHDC1) gene that are predicted to lead to truncated AHDC1 protein synthesis. More than 270 individuals have been diagnosed with XGS worldwide.
Michael M. Khayat, Jianhong Hu, Yunyun Jiang, He Li, Varuna Chander, Moez Dawood, Adam W. Hansen, Shoudong Li, Jennifer Friedman, Laura Cross, Emilia K. Bijlsma, Claudia A.L. Ruivenkamp, Francis H. Sansbury, Jeffrey W. Innis, Jessica Omark O’Shea, Qingchang Meng, Jill A. Rosenfeld, Kirsty McWalter, Michael F. Wangler, James R. Lupski, Jennifer E. Posey, David Murdock, Richard A. Gibbs   +22 more
openaire   +4 more sources

Functional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy

Nature Communications, 2014
NMDA receptors (NMDARs), ligand-gated ion channels, play important roles in various neurological disorders, including epilepsy. Here we show the functional analysis of a de novo missense mutation (L812M) in a gene encoding NMDAR subunit GluN2A (GRIN2A ...
Hongjie Yuan, K. Hansen, Jing Zhang, T. Pierson, T. Markello, Karin V. Fuentes Fajardo, Conisha M. Holloman, Gretchen A. Golas, D. Adams, C. Boerkoel, W. Gahl, S. Traynelis   +11 more
semanticscholar   +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

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

Whole exome and targeted deep sequencing identify genome-wide allelic loss and frequent SETDB1 mutations in malignant pleural mesotheliomas. [PDF]

, 2016
Malignant pleural mesothelioma (MPM), a rare malignancy with a poor prognosis, is mainly caused by exposure to asbestos or other organic fibers, but the underlying genetic mechanism is not fully understood.
Fang, Li Tai, Jablons, David M, Jen, Kuang-Yu, Jones, Kirk, Kang, Hio Chung, Kim, Hong Kwan, Kim, Il-Jin, Kim, James Wansoo, Lee, Sharon, Mendez, Pedro, Woodard, Gavitt, Yoon, Jun-Hee   +11 more
core   +3 more sources

Lack of evidence for decreased protein stability in the 2397 (Met) haplotype of the leucine rich repeat kinase 2 protein implicated in Parkinson’s disease [PDF]

, 2017
Missense mutations in the leucine rich repeat kinase 2 (LRRK2) gene are the leading genetic cause of autosomal dominant familial Parkinson’s disease.
Anderton, Ryan S, Boulos, Sherif, Greene, Wayne, Hill, Lauren, Mastaglia, Frank L, Morris, Rhiannon   +5 more
core   +2 more sources

Circuit topology predicts pathogenicity of missense mutations

Proteins: Structure, Function, and Bioinformatics, 2022
AbstractThe contact topology of a protein determines important aspects of the folding process. The topological measure of contact order has been shown to be predictive of the rate of folding. Circuit topology is emerging as another fundamental descriptor of biomolecular structure, with predicted effects on the folding rate. We analyze the residue‐based
Jaie Woodard, Sumaiya Iqbal, Alireza Mashaghi   +2 more
openaire   +3 more sources

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source