Results 51 to 60 of about 1,412,344 (374)

An immunocompetent patient with a nonsense mutation in NHEJ1 gene [PDF]

BMC Medical Genetics, 2019
DNA double-strand breaks (DSBs) are among the most deleterious types of DNA damage. DSBs are repaired by homologous recombination or non-homologous end-joining (NHEJ). NHEJ, which is central to the process of V(D)J recombination is the principle pathway for DSB repair in higher eukaryotes.
Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Zahra Hojaji, Parham Habibzadeh, Dorna Afshinfar, Mohammad Miryounesi, Majid Fardaei, Mohammad Ali Faghihi   +7 more
openaire   +4 more sources

A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay

Circulation, 2019
Background: Hypertrophic cardiomyopathy (HCM) is frequently caused by mutations in myosin-binding protein C3 (MYBPC3) resulting in a premature termination codon (PTC).
T. Seeger, R. Shrestha, C. Lam, Caressa Chen, Wesley L. McKeithan, E. Lau, Alexa Wnorowski, George McMullen, Matthew Greenhaw, Jaecheol Lee, Angelos Oikonomopoulos, Soah Lee, Huaxiao Yang, M. Mercola, M. Wheeler, E. Ashley, Fan Yang, I. Karakikes, Joseph C. Wu   +18 more
semanticscholar   +1 more source

Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

Case Reports in Neurological Medicine, 2018
Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years.
Vamshi K. Rao, Christine J. DiDonato, Paul D. Larsen   +2 more
doaj   +1 more source

F8 gene mutation spectrum in severe hemophilia A with inhibitors: A large cohort data analysis from a single center in China

Research and Practice in Thrombosis and Haemostasis, 2022
Introduction Type of F8 gene mutation is the most important risk factor for inhibitor development in people with severe hemophilia A. However, there are few large cohort studies on the F8 mutation spectrum of people with severe hemophilia A with ...
Jie Sun, Zekun Li, Kun Huang, Di Ai, Gang Li, Xingjuan Xie, Hao Gu, Guoqing Liu, Yingzi Zhen, Zhenping Chen, Runhui Wu   +10 more
doaj   +1 more source

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model [PDF]

, 2016
Choroideremia (CHM) is an X-linked chorioretinal dystrophy that is caused by mutations within a single gene, CHM Currently no effective treatment exists for these patients.
Coffey, P, da Cruz, L, Kalatzis, V, Moosajee, M, Smart, M, Torriano, S, Tracey-White, D, Webster, AR, Weetall, M, Welch, E   +9 more
core   +1 more source

The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion. [PDF]

, 2017
Common genetic variants at the ARL15 locus are associated with plasma adiponectin, insulin and HDL cholesterol concentrations, obesity, and coronary atherosclerosis.

core   +2 more sources

A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome.

Journal of Clinical Endocrinology and Metabolism, 2016
BACKGROUND Pituitary stalk interruption syndrome (PSIS) and holoprosencephaly (HPE) are congenital midline defects. Rare mutations in the sonic hedgehog (SHH) signaling gene CDON have recently been reported in patients with HPE.
A. Bashamboo, J. Bignon-Topalovic, H. Rouba, K. McElreavey, R. Brauner   +4 more
semanticscholar   +1 more source

A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]

, 2017
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella, Biffignandi, Alice, Bruno, Sabina Maria, Colombo, Carla, Corbetta, Carlo, Costantino, Lucy, Giannone, Valentina, Lucarelli, Marco, Porcaro, Luigi, Seia, Manuela, Torresani, Erminio   +10 more
core   +2 more sources

Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa

BMC Ophthalmology, 2021
Background To explore the molecular genetic cause of a four-generation autosomal dominant retinitis pigmentosa family in China. Methods Targeted region sequencing was performed to detect the potential mutation, and Sanger sequencing was used to validate ...
Wei Liu, Ruru Guo, Huijie Hao, Jian Ji
doaj   +1 more source

Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report

BMC Pulmonary Medicine, 2016
BackgroundPulmonary arterial hypertension (PAH) is a rare, progressive, fatal vascular disorder. Genetic predisposition plays vital roles in the development of PAH, with most mutations being identified in genes involved in the transforming growth factor ...
Guoliang Wang, Rui-yun Fan, Ruirui Ji, Wenxin Zou, D. Penny, N. Varghese, Yuxin Fan   +6 more
semanticscholar   +1 more source