Results 41 to 50 of about 151,372 (221)

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

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

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 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

Predicting Pathogenicity Of nsSNPs Associated With Rb1 -- An In Silico Approach [PDF]

arXiv, 2023
Single nucleotide polymorphisms (SNPs) are variations at specific locations in DNA. Sequence responsible for marking genes associated with diseases or tracking inherited diseases within The family. These variations in the Rb1 gene can cause Retinoblastoma and cancer in the retina Of one eye or both, Osteosarcoma, Melanoma, Leukemias, Lungs, and Breast ...
arxiv  

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

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

Analyzing Effects of Naturally Occurring Missense Mutations [PDF]

Computational and Mathematical Methods in Medicine, 2012
Single-point mutation in genome, for example, single-nucleotide polymorphism (SNP) or rare genetic mutation, is the change of a single nucleotide for another in the genome sequence. Some of them will produce an amino acid substitution in the corresponding protein sequence (missense mutations); others will not.
Zhang, Zhe, Miteva, Maria A, Wang, Lin, Alexov, Emil   +3 more
openaire   +3 more sources

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

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