Results 51 to 60 of about 239,120 (310)

Impact of missense mutations on biosynthesis of myeloperoxidase

Redox Report, 2000
We have examined the biosynthesis of normal and mutant forms of myeloperoxidase (MPO) in order to gain insights into the critical features of normal biogenesis of MPO. The expression of wild-type and mutant forms of MPO in a stably transfected cell line devoid of endogenous MPO as well as in established human promyelocytic cell lines has allowed ...
William M. Nauseef, Melissa Goedken, Sally McCormick   +2 more
openaire   +3 more sources

Analyses of a Novel L130F Missense Mutation in FOXC1 [PDF]

Archives of Ophthalmology, 2007
To understand how the novel L130F mutation, found in 2 patients with Axenfeld-Rieger syndrome, disrupts function of the forkhead box C1 protein (FOXC1).Sequencing DNA from patients with Axenfeld-Rieger syndrome identified a novel missense mutation that results in an L130F substitution in the FOXC1 gene.
Ito, Yoko A., Footz, Tim K., Murphy, Tara C., Courtens, Winnie, Walter, Michael A.   +4 more
openaire   +3 more sources

A missense mutation in Lama3 causes androgen alopecia

Scientific Reports, 2023
AbstractHair loss disorders such as androgenetic alopecia have caused serious disturbances to normal human life. Animal models play an important role in exploring pathogenesis of disease and evaluating new therapies. NIH hairless mice are a spontaneous hairless mouse discovered and bred in our laboratory.
Zhong-Hao Ji, Wen-Zhi Ren, Song He, Hong-Yu Wu, Bao Yuan, Jian Chen, Hong-Juan Jin   +6 more
openaire   +3 more sources

The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals [PDF]

, 2020
A variety of missense mutations and a stop mutation in the gene coding for transmembrane protein 240 (TMEM240) have been reported to be the causative mutations of spinocerebellar ataxia 21 (SCA21). We aimed to investigate the expression of TMEM240 protein in mouse brain at the tissue, cellular, and subcellular levels. Immunofluorescence labeling showed
arxiv   +1 more source

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]

, 2015
Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE, CAPUTO, VIVIANA, Castori, M, D'ANGELANTONIO, DANIELA, De Bernardo, C, Giannarelli, D, GRAMMATICO, Paola, LIPARI, MARTINA, Majore, S, PAIARDINI, ALESSANDRO, PIZZUTI, Antonio, Re, F, Zachara, E   +12 more
core   +1 more source

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

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

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

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