Results 1 to 10 of about 122,027 (274)

Delineation of Mitochondrial DNA Variants From Exome Sequencing Data and Association of Haplogroups With Obesity in Kuwait

Frontiers in Genetics, 2021
Background/ObjectivesWhole-exome sequencing is a valuable tool to determine genetic variations that are associated with rare and common health conditions.
Mohammed Dashti, Hussain Alsaleh, Muthukrishnan Eaaswarkhanth, Sumi Elsa John, Rasheeba Nizam, Motasem Melhem, Prashantha Hebbar, Prem Sharma, Fahd Al-Mulla, Thangavel Alphonse Thanaraj   +9 more
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Whole-Genome Sequencing Reveals Exonic Variation of ASIC5 Gene Results in Recurrent Pregnancy Loss

Frontiers in Medicine, 2021
Family trio next-generation sequencing-based variant analysis was done to identify the genomic reason on unexplained recurrent pregnancy loss (RPL). A family (dead fetus and parents) from Saudi Arabia with an earlier history of three unexplained RPLs at ...
Nourah H. Al Qahtani, Sayed AbdulAzeez, Noor B. Almandil, Norah Fahad Alhur, Hind Saleh Alsuwat, Hatoon Ahmed Al Taifi, Ahlam A. Al-Ghamdi, B. Rabindran Jermy, Mohamed Abouelhoda, Mohamed Abouelhoda, Shazia Subhani, Shazia Subhani, Lubna Al Asoom, J. Francis Borgio, J. Francis Borgio   +14 more
doaj   +1 more source

Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD

Frontiers in Genetics, 2023
Introduction: Despite the progress made in the study of Facioscapulohumeral Dystrophy (FSHD), the wide heterogeneity of disease complicates its diagnosis and the genotype-phenotype correlation among patients and within families.
Claudia Strafella, Valerio Caputo, Sara Bortolani, Eleonora Torchia, Domenica Megalizzi, Giulia Trastulli, Mauro Monforte, Luca Colantoni, Carlo Caltagirone, Enzo Ricci, Enzo Ricci, Giorgio Tasca, Giorgio Tasca, Raffaella Cascella, Raffaella Cascella, Emiliano Giardina, Emiliano Giardina   +16 more
doaj   +1 more source

Exome sequencing of deer mice on two California Channel Islands identifies potential adaptation to strongly contrasting ecological conditions

Ecology and Evolution, 2021
Understanding the forces that drive genotypic and phenotypic change in wild populations is a central goal of evolutionary biology. We examined exome variation in populations of deer mice from two of the California Channel Islands: Peromyscus maniculatus ...
John L. Orrock, Linelle Abueg, Stephen Gammie, Jason Munshi‐South   +3 more
doaj   +1 more source

A whole exome sequencing study to identify rare variants in multiplex families with alcohol use disorder

Frontiers in Psychiatry, 2023
BackgroundAlcohol use disorder (AUD) runs in families and is accompanied by genetic variation. Some families exhibit an extreme susceptibility in which multiple cases are found and often with an early onset of the disorder.
Shirley Y. Hill, Joseph Hostyk
doaj   +1 more source

Multi-omics analysis of the Indian ovarian cancer cohort revealed histotype-specific mutation and gene expression patterns

Frontiers in Genetics, 2023
Introduction: In India, OVCa is women’s third most common and lethal cancer type, accounting for 6.7% of observed cancer incidences. The contribution of somatic mutations, aberrant expression of gene and splice forms in determining the cell fate, gene ...
Anisha Mhatre, Jinsha Koroth, Meghana Manjunath, Meghana Manjunath, Sandeep Kumar S, Ramesh Gawari, Bibha Choudhary   +6 more
doaj   +1 more source

Whole-Exome Sequencing Reveals Migraine-Associated Novel Functional Variants in Arab Ancestry Females: A Pilot Study

Brain Sciences, 2022
Migraine, as the seventh most disabling neurological disease with 26.9% prevalence in Saudi females, lacks studies on identifying associated genes and pathways with migraines in the Arab population.
Johra Khan, Lubna Al Asoom, Ahmad Al Sunni, Nazish Rafique, Rabia Latif, Majed Alabdali, Azhar Alhariri, Majed Aloqaily, Sayed AbdulAzeez, Sadaf Jahan, Saeed Banawas, J. Francis Borgio   +11 more
doaj   +1 more source

Analysis of Rare Variants in 470,000 Exome-Sequenced UK Biobank Participants Implicates Novel Genes Affecting Risk of Hypertension

Pulse, 2023
Introduction: A previous study of 200,000 exome-sequenced UK Biobank participants to test for association of rare coding variants with hypertension implicated two genes at exome-wide significance, DNMT3A and FES.
David Curtis
doaj   +1 more source

Clinical and genomic features of non‐small cell lung cancer occurring in families

Thoracic Cancer, 2023
Background Exposure to environmental carcinogens, such as through smoking, is a major factor in the carcinogenesis of non‐small cell lung cancer (NSCLC). However, genetic factors may also contribute.
Shingo Miyabe, Shin Ito, Ikuro Sato, Jiro Abe, Keiichi Tamai, Mai Mochizuki, Haruna Fujimori, Kazunori Yamaguchi, Norihisa Shindo, Hiroshi Shima, Tomoko Yamazaki, Makoto Abue, Yoshinori Okada, Jun Yasuda   +13 more
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Identification of a de novo Mutation in TMEM106B in a Saudi Child Causes Hypomyelination Leukodystrophy

Global Medical Genetics, 2023
Hypomyelinating leukodystrophies are one of the white matter disorders caused by a lack of myelin deposition in the central nervous system (CNS). Here, we report the first case of hypomyelinating leukodystrophy in the Middle East and Saudi Arabia.
Lena Alotaibi, Amal Alqasmi
doaj   +1 more source