Results 1 to 10 of about 127,509 (268)

Polymorphism of the trehalase gene (TREH) in native populations of Siberia

Вавиловский журнал генетики и селекции, 2018
Deficiency of some carbohydrates in the traditional diet of native populations of the Far North contributed to a high population prevalence of inactive variants of genes encoding, for example, amylase (AMY2A gene) and sucrase­isomaltase (SI gene ...
B. A. Malyarchuk, M. V. Derenko
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Analysis of mutations in CDC27, CTBP2, HYDIN and KMT5A genes in carotid paragangliomas

Вавиловский журнал генетики и селекции, 2018
Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors that arise from paraganglionic tissue of the carotid body localizing at the bifurcation of carotid artery.
E. N. Lukyanova, A. V. Snezhkina, D. V. Kalinin, A. V. Pokrovsky, A. L. Golovyuk, O. A. Stepanov, E. A. Pudova, G. S. Razmakhaev, M. V. Orlova, A. P. Polyakov, M. V. Kiseleva, A. D. Kaprin, A. V. Kudryavtseva   +12 more
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Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort

Frontiers in Genetics, 2020
Oculocutaneous albinism (OCA) is a genetic disorder characterized by skin, hair, and eye hypopigmentation due to a reduction or absence of melanin. Clinical manifestations include vision problems and a high susceptibility to skin cancer.
Laire Schidlowski, Laire Schidlowski, Fernando Liebert, Fernando Liebert, Pérola Grupenmacher Iankilevich, Priscila Regina Orso Rebellato, Rafaela Andrade Rocha, Nadia Aparecida Pereira Almeida, Aayushee Jain, Yiming Wu, Yuval Itan, Yuval Itan, Roberto Rosati, Roberto Rosati, Carolina Prando, Carolina Prando, Carolina Prando   +16 more
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Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project[S]

Journal of Lipid Research, 2014
HDL-associated paraoxonase-1 (PON1) is an enzyme whose activity is associated with cerebrovascular disease. Common PON1 genetic variants have not been consistently associated with cerebrovascular disease.
Daniel Seung Kim, David R. Crosslin, Paul L. Auer, Stephanie M. Suzuki, Judit Marsillach, Amber A. Burt, Adam S. Gordon, James F. Meschia, Mike A. Nalls, Bradford B. Worrall, W.T. Longstreth, Jr., Rebecca F. Gottesman, Clement E. Furlong, Ulrike Peters, Stephen S. Rich, Deborah A. Nickerson, Gail P. Jarvik   +16 more
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Lessons learned about harmonizing survey measures for the CSER consortium

Journal of Clinical and Translational Science, 2020
Introduction: Implementation of genome-scale sequencing in clinical care has significant challenges: the technology is highly dimensional with many kinds of potential results, results interpretation and delivery require expertise and coordination across ...
Katrina A.B. Goddard, Frank A.N. Angelo, Sara L. Ackerman, Jonathan S. Berg, Barbara B. Biesecker, Maria I. Danila, Kelly M. East, Lucia A. Hindorff, Carol R. Horowitz, Jessica Ezzell Hunter, Galen Joseph, Sara J. Knight, Amy McGuire, Kristin R. Muessig, Jeffrey Ou, Simon Outram, Elizabeth J. Rahn, Michelle A. Ramos, Christine Rini, Jill O. Robinson, Hadley Stevens Smith, Margaret Waltz, Sandra Soo-Jin Lee   +22 more
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Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria

Biomedicines
Background: Homocystinuria caused by cystathionine β-synthase (CBS) deficiency is the most common congenital disorder related to sulfur amino acid metabolism, manifested by neurological, vascular, and connective tissue involvement.
Xin Liu, Xinhua Liu, Jinfeng Liu, Junhong Guo, Danyao Nie, Jiantao Wang   +5 more
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High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations

Frontiers in Genetics, 2020
Molecular signaling that leads to brain arteriovenous malformation (bAVM) is to date elusive and this is firstly due to the low frequency of familial cases.
Concetta Scimone, Concetta Scimone, Luigi Donato, Luigi Donato, Concetta Alafaci, Francesca Granata, Carmela Rinaldi, Marcello Longo, Rosalia D’Angelo, Rosalia D’Angelo, Antonina Sidoti, Antonina Sidoti   +11 more
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Genome-Wide Association Study of Tacrolimus Pharmacokinetics Identifies Novel Single Nucleotide Polymorphisms in the Convalescence and Stabilization Periods of Post-transplant Liver Function

Frontiers in Genetics, 2019
After liver transplantation, the liver function of a patient is gradually restored over a period of time that can be divided into a convalescence period (CP) and a stabilizing period (SP).
Yuan Liu, Chengdong Zhang, Lei Li, Baochi Ou, Liyun Yuan, Tao Zhang, Junwei Fan, Zhihai Peng   +7 more
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Actionable Exomic Secondary Findings in 280 Lebanese Participants

Frontiers in Genetics, 2020
The expanded use of NGS tests in genetic diagnosis enables the massive generation of data related to each individual, among which some findings are of medical value. Over the last three and a half years, 280 unrelated Lebanese patients, presenting a wide
Nadine Jalkh, Cybel Mehawej, Eliane Chouery   +2 more
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Mutated axon guidance gene PLXNB2 sustains growth and invasiveness of stem cells isolated from cancers of unknown primary

EMBO Molecular Medicine, 2023
The genetic changes sustaining the development of cancers of unknown primary (CUP) remain elusive. The whole‐exome genomic profiling of 14 rigorously selected CUP samples did not reveal specific recurring mutation in known driver genes.
Serena Brundu, Virginia Napolitano, Giulia Franzolin, Ettore Lo Cascio, Roberta Mastrantonio, Gabriele Sardo, Eliano Cascardi, Federica Verginelli, Sergio Sarnataro, Gennaro Gambardella, Alberto Pisacane, Alessandro Arcovito, Carla Boccaccio, Paolo M Comoglio, Enrico Giraudo, Luca Tamagnone   +15 more
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