Results 301 to 310 of about 1,702,970 (343)

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.

Cell, 1994
E. Puffenberger, K. Hosoda, S. S. Washington, K. Nakao, D. Dewit, M. Yanagisawa, A. Chakravarti   +6 more
semanticscholar   +3 more sources

Predicting Oncogenic Missense Mutations

2019 IEEE EMBS International Conference on Biomedical & Health Informatics (BHI), 2019
With the rapid progress of cancer genome studies, many missense mutations in populations of somatic cells of different cancer types and at different stages have been identified. However, it is challenging to understand the implications of these cancer-related variants.
Xue, Lei, Boshen, Wang, Alan, Perez-Rathke, Wei, Tian, Chia-Yi, Chou, Yan Yuan, Tseng, Jie, Liang   +6 more
openaire   +2 more sources

Two Novel Missense Mutations in Nonketotic Hyperglycinemia

Journal of Child Neurology, 2014
Nonketotic hyperglycinemia (OMIM no. 605899) is an autosomal recessively inherited glycine encephalopathy, caused by a deficiency in the mitochondrial glycine cleavage system. Here we report 2 neonates who were admitted to the hospital with complaints of respiratory failure and myoclonic seizures with an elevated cerebrospinal fluid/plasma glycine ...
Yilmaz B.S., Kor D., Ceylaner S., Mert G.G., Incecik F., Kartal E., Mungan N.O.   +6 more
openaire   +3 more sources

Missense mutations resulting in type 1 lissencephaly

CMLS Cellular and Molecular Life Sciences, 2005
Proper human brain formation is dependent upon the integrated activity of multiple genes. Malfunctioning of key proteins results in brain developmental abnormalities. Mutation(s) in the LIS1 gene or the X-linked gene doublecortin (DCX) results in a spectrum of disorders including lissencephaly, or "smooth brain", and subcortical band heterotopia, or ...
O, Reiner, F M, Coquelle
openaire   +2 more sources

Making Sense of Missense Mutations

Science Translational Medicine, 2013
Genetic variation that is deleterious is on average younger than neutral variation.
openaire   +1 more source

Novel missense mutations in PAX9 causing oligodontia

Archives of Oral Biology, 2012
We investigated the disease-causing gene of oligodontia in Chinese families and analysed the pathogenesis of mutations of this gene that results in oligodontia.Two families with oligodontia, but of different descent and 100 unrelated healthy controls were enrolled in our study. Genomic DNA was isolated from blood samples.
Jia, Liang, Guangtai, Song, Qing, Li, Zhuan, Bian   +3 more
openaire   +2 more sources

Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.

Cancer Cell, 2005
Polycythemia vera (PV), essential thrombocythemia (ET), and myeloid metaplasia with myelofibrosis (MMM) are clonal disorders arising from hematopoietic progenitors.
R. Levine, M. Wadleigh, J. Cools, B. Ebert, G. Wernig, B. Huntly, T. Boggon, I. Wlodarska, Jennifer J. Clark, Sandra A. Moore, Jennifer Adelsperger, Sumin Koo, Jeffrey C. Lee, S. Gabriel, T. Mercher, A. D’Andrea, S. Fröhling, K. Döhner, P. Marynen, P. Vandenberghe, R. Mesa, A. Tefferi, J. Griffin, M. Eck, W. Sellers, M. Meyerson, T. Golub, Stephanie J. Lee, D. Gilliland   +28 more
semanticscholar   +1 more source

Molecular Phenotypes Segregate Missense Mutations in SLC13A5 Epilepsy

Journal of Molecular Biology
AbstractThe sodium-coupled citrate transporter (NaCT, SLC13A5) mediates citrate uptake across the plasma membrane via an inward Na+gradient. Mutations in SLC13A5 cause early infantile epileptic encephalopathy type-25 (EIEE25, SLC13A5 Epilepsy) due to impaired citrate uptake in neurons.
Valeria Jaramillo-Martinez, Souad R. Sennoune, Elena B. Tikhonova, Andrey L. Karamyshev, Vadivel Ganapathy, Ina L. Urbatsch   +5 more
openaire   +3 more sources

BRCA1/2 germline missense mutations: a systematic review

European Journal of Cancer Prevention, 2018
Hereditary breast and ovarian cancer is an inherited syndrome associated with BRCA1/2 germline defects. The identified mutations are classified as missense, large deletion, insertion, nonsense and splice-site variants with a deleterious impact on BRCA1/2 function.
Corso, Giovanni, Feroce, Irene, Intra, Mattia, Toesca, Antonio, Magnoni, Francesca, Sargenti, Manuela, Naninato, Paola, Caldarella, Pietro, Pagani, Gianmatteo, Vento, Annarita, Veronesi, Paolo, Bonanni, Bernardo, Galimberti, Viviana   +12 more
openaire   +2 more sources

Bioinformatic Analysis of GJB2 Gene Missense Mutations

Cell Biochemistry and Biophysics, 2014
Gap junction beta 2 (GJB2) gene is the most commonly mutated connexin gene in patients with autosomal recessive and dominant hearing loss. According to Ensembl (release 74) database, 1347 sequence variations are reported in the GJB2 gene and about 13.5% of them are categorized as missense SNPs or nonsynonymous variant.
openaire   +2 more sources