Results 51 to 60 of about 12,735 (119)

Exome Sequencing in Clinical Hepatology

Hepatology, 2019
The clinical relevance of the Human Genome Project and next‐generation sequencing technology was demonstrated for the first time in 2009, when whole‐exome sequencing (WES) provided the definitive diagnosis of congenital chloride diarrhea in an infant with presumed renal salt‐wasting disease. Over the past decade, numerous studies have shown the utility
Sílvia, Vilarinho, Pramod K, Mistry
openaire   +3 more sources

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
doaj   +1 more source

Exome Sequencing of Native Populations From the Amazon Reveals Patterns on the Peopling of South America

Frontiers in Genetics, 2020
Studies on the peopling of South America have been limited by the paucity of sequence data from Native Americans, especially from the east part of the Amazon region.
André M. Ribeiro-dos-Santos, Amanda Ferreira Vidal, Tatiana Vinasco-Sandoval, João Guerreiro, Sidney Santos, Sidney Santos, Ândrea Ribeiro-dos-Santos, Ândrea Ribeiro-dos-Santos, Sandro J. de Souza, Sandro J. de Souza, Sandro J. de Souza   +10 more
doaj   +1 more source

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
doaj   +1 more source

Exome Sequencing to Predict Neoantigens in Melanoma [PDF]

Cancer Immunology Research, 2015
Abstract The ability to use circulating peripheral blood cells and matched tumor sequencing data as a basis for neoantigen prediction has exciting possibilities for application in the personalized treatment of cancer patients. We have used a high-throughput screening approach, combining whole-exome sequence data, mRNA microarrays, and
Pritchard, Antonia L, Burel, Julie G, Neller, Michelle A, Hayward, Nicholas K, Lopez, J Alejandro, Fatho, Martina, Lennerz, Volker, Woelfel, Thomas, Schmidt, Christopher W   +8 more
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Polymorphism of the cold receptor gene TRPM8 in native populations of Siberia: putative selective role of rs11563208 polymorphism in Northeast Asia

Вавиловский журнал генетики и селекции, 2017
The TRPM8 gene encodes the cold-activated receptor TRPM8, which has an important role in cold adaptation as well as in metabolic and immune responses. Previously, it has been found that polymorphic variants of the TRPM8 gene, which are present in human ...
B. A. Malyarchuk, M. V. Derenko
doaj   +1 more source

Exome sequencing: a transformative technology [PDF]

The Lancet Neurology, 2011
Much basic research into disease mechanisms has made use of genetic findings to model and understand aetiology. Broad success has been achieved in finding disease-linked mutations with traditional positional cloning approaches; however, because of the requirements of this method, these successes have been limited by the availability of large, well ...
openaire   +2 more sources

The Importance of Prenatal Whole-Exome Sequencing Testing in the Romanian Population

Journal of Mind and Medical Sciences
One major cause of prenatal mortality and morbidity is congenital abnormalities. Knowing the prevalence and etiology of congenital malformations is essential for analyzing trends and improving neonatal care.
Ileana-Delia Săbău, Laurentiu-Camil Bohîltea, Viorica Elena Rădoi, Anca Mirela Bardan, Ovidiu Virgil Maioru, Mihaela Țurcan, Viorel Aurel Suciu-Lazar, Iuliana Ceausu   +7 more
doaj   +1 more source

Role of Segregation for Variant Discovery in Multiplex Families Ascertained by Probands With Left Sided Cardiovascular Malformations

Frontiers in Genetics, 2019
Cardiovascular malformations (CVM) are common birth defects (incidence of 2–5/100 live births). Although a genetic basis is established, in most cases the cause remains unknown.
Lisa J. Martin, Lisa J. Martin, Valentina Pilipenko, D. Woodrow Benson   +3 more
doaj   +1 more source

Neurodevelopment Genes Encoding Olduvai Domains Link Myalgic Encephalomyelitis to Neuropsychiatric Disorders

Diagnostics
Background/Objectives: The aetiology of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), a chronic and severe debilitating disease with a complex phenotype, remains elusive.
Mauricio Arcos-Burgos, Mauricio Arcos-Holzinger, Claudio Mastronardi, Mario A. Isaza-Ruget, Jorge I. Vélez, Donald P. Lewis, Hardip Patel, Brett A. Lidbury   +7 more
doaj   +1 more source