Results 21 to 30 of about 122,027 (274)

Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing

Archives of Medical Science, 2021
More than 25 million DNA variations have been discovered as novel including major alleles from the Arab population. Exome studies on the Saudi genome discovered > 3000 novel nucleotide variants associated with > 1200 rare genetic disorders ...
J. Francis Borgio
doaj   +1 more source

Next generation sequencing in sudden cardiac death (pilot study)

Российский кардиологический журнал, 2020
Aim. To search for causal mutations in candidate genes responsible for the development of sudden cardiac death (SCD) in men who died under the age of 45.Material and methods.
V. N. Maksimov, D. E. Ivanoshchuk, P. S. Orlov, A. A. Ivanova, S. K. Malyutina, S. V. Maksimova, I. A. Rodina, O. V. Khamovich, V. P. Novoselov, M. I. Voevoda   +9 more
doaj   +1 more source

Potential Candidate Gene and Underlying Molecular Mechanism Involving in Tumorigenesis of Endometriosis-Associated Ovarian Cancer (EAOC) in Asian Populations

Medical Sciences Forum, 2023
Molecular aberrations in endometriosis were known to be associated with an increased risk of epithelial ovarian cancer (EOCs), especially endometrioid ovarian cancer (EnOC) and ovarian clear cell carcinoma (OCCC).
Rut Christine Inggriani, Che-Chang Chang, Wei-Chung Yang   +2 more
doaj   +1 more source

The association of rs1008832 CACNA1C, rs4027402 SYNE2, rs2340917 TMEM43, rs58225473 CACNB2 with sudden cardiac death

Атеросклероз, 2022
Single nucleotide polymorphisms rs1008832 of the CACNA1C gene, rs4027402 of the SYNE2 gene, rs2340917 of the TMEM43 gene, rs58225473 of the CACNB2 gene were found by sequencing the clinical exome of a group of men who died of sudden cardiac death (SCD ...
А. А. Ivanova, E. S. Melnikova, А. А. Gurazheva, A. M. Nesterets, S. K. Malyutina, I. A. Rodina, O. V. Khamovich, V. P. Novoselov, V. N. Maksimov   +8 more
doaj   +1 more source

Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia

Frontiers in Endocrinology, 2023
Timely diagnosis of persistent neonatal hypoglycemia is critical to prevent neurological sequelae, but diagnosis is complicated by the heterogenicity of the causes.
Herodes Guzman, Herodes Guzman, Sahr Yazdani, Jennifer L. Harmon, Kimberly A. Chapman, Bernadette Vitola, Bernadette Vitola, Louise Pyle, Heather McKnight, Winnie Sigal, Winnie Sigal, Katherine Lord, Katherine Lord, Diva D. De Leon, Diva D. De Leon, Nadia Merchant, Nadia Merchant, Rebecca Ganetzky, Rebecca Ganetzky   +18 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

Beyond the exome: what's next in diagnostic testing for Mendelian conditions [PDF]

, 2023
Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise molecular diagnosis. Clinical evaluation is increasingly undertaken by specialists outside of clinical genetics, often occurring in a tiered fashion and typically ending ...
arxiv   +1 more source

Dynamical System Modeling to Simulate Donor T Cell Response to Whole Exome Sequencing-Derived Recipient Peptides: Understanding Randomness in Clinical Outcomes Following Stem Cell Transplantation [PDF]

PLoS One. 2017 Dec 1;12(12):e0187771, 2016
Alloreactivity following stem cell transplantation (SCT) is difficult to predict in patients undergoing transplantation from HLA matched donors. In this study we performed whole exome sequencing of SCT donor-recipient pairs (DRP). This allowed determination of entire library of alloreactive peptide sequences which would bind HLA class I molecules in ...
arxiv   +1 more source

Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia

The Turkish Journal of Pediatrics, 2019
We aimed to systematically investigate the neuromuscular involvement of individuals with PRUNE mutations who may have a major spinal motor neuron involvement as part of the PRUNE-associated neurodegenerative phenotype.
Derya Okur, Hülya Sevcan Daimagüler, Ayça Ersen Danyeli, Hasan Tekgül, Haicui Wang, Gilbert Wunderlich, Sebahattin Çırak, Uluç Yiş   +7 more
doaj   +1 more source

Identification of PI3K-AKT signaling as the dominant altered pathway in intestinal type ampullary cancers through whole-exome sequencing [PDF]

Journal of Pathology and Translational Medicine, 2021
Background The genetic landscape of intestinal (INT) and pancreatobiliary (PB) type ampullary cancer (AC) has been evolving with distinct as well as overlapping molecular profiles. Methods We performed whole-exome sequencing in 37 cases of AC to identify
Niraj Kumari, Rajneesh K. Singh, Shravan K. Mishra, Narendra Krishnani, Samir Mohindra, Raghvendra L.   +5 more
doaj   +1 more source