Results 191 to 200 of about 7,051 (240)

Genotyping Contemporary Captive and Historical Wild Western Lowland Gorillas Indicates Captive Breeding Is Maintaining Genetic Diversity in a Critically Endangered Primate

Animal Conservation, EarlyView.
Captive populations of threatened species risk losing genetic diversity over time. We evaluated the genetic status of contemporary captive western lowland gorillas (Gorilla gorilla gorilla) at Howletts and Port Lympne and compared this with specimens from a historical wild population.
Jaimie Morris, Tony King, John Hills, Simon C. Harvey, Jane Hopper, Rodrigo Vega   +5 more
wiley   +1 more source

Genomic Assessment of Reintroduced African Wild Dogs Informs Conservation Translocations

Animal Conservation, EarlyView.
Few reintroduction and translocation programs incorporate genomic assessments into management planning, despite ongoing debate over how founder individuals should be selected. Here, we assess the genomic composition of reintroduced African wild dog (Lycaon pictus) populations in private reserves in South Africa, comparing them with a free‐roaming ...
Michou Weimar, Cole du Plessis, Rosemary Groom, Bettine Jansen van Vuuren, Laura Tensen   +4 more
wiley   +1 more source

Discovery of runs-of-homozygosity diplotype clusters and their associations with diseases in UK Biobank. [PDF]

Elife
Naseri A, Zhi D, Zhang S.
europepmc   +1 more source

Impact of FSHB and FSHR Genes Polymorphisms on Hormonal Profile and Sperm Retrieval Outcome in Men With Klinefelter Syndrome: A Clinical–Genetic Predictive Study

Andrology, EarlyView.
ABSTRACT Background Genetic variability within the follicle‐stimulating hormone (FSH)‐related genes might contribute to phenotypic heterogeneity in patients with Klinefelter syndrome (KS), yet its clinical impact on sperm retrieval remains unclear. Objectives To investigate the association between FSHB c.211 G > T and FSHR polymorphisms (c.2039 A > G ...
Andrea Graziani, Giuseppe Grande, Maria Santa Rocca, Massimo Iafrate, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +6 more
wiley   +1 more source

Single nucleotide polymorphism-based analysis of linkage disequilibrium and runs of homozygosity patterns of indigenous sheep in the southern Taklamakan desert. [PDF]

BMC Genomics
Han ZP, Zhang LL, Li XP, Zhu LJ, Zhang XC, Zhou W, Liu S.   +6 more
europepmc   +1 more source

Loss‐of‐Function Variants in CCDC189 Cause Human Oligoasthenoteratozoospermia by Disrupting Sperm Flagellar and Acrosomal Architecture

Andrology, EarlyView.
ABSTRACT Background Oligoasthenoteratozoospermia (OAT), characterized by reduced sperm count, impaired motility, and abnormal morphology, is a major cause of male infertility with substantial genetic heterogeneity. However, the underlying genetic etiology remains unresolved in a large proportion of affected individuals.
Jianteng Zhou, Ghulam Mustafa, Tingting Lin, Jingwei Ye, Huan Zhang, Hanwei Jiang, Kexin Yang, Guoning Huang, Qinghua Shi   +8 more
wiley   +1 more source

Genome-Wide Runs of Homozygosity Reveal Inbreeding Levels and Trait-Associated Candidate Genes in Diverse Sheep Breeds. [PDF]

Genes (Basel)
Ma R, Liu J, Ma X, Yang J.
europepmc   +1 more source

Dystrophia Smolandiensis is characterized by a novel NQO1 variant and a distinct phenotype from COL17A1‐associated epithelial recurrent erosion dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To determine the molecular cause of the two epithelial recurrent erosion dystrophies, Dystrophia Smolandiensis and Dystrophia Helsinglandica, and to identify phenotypic differences between the two conditions. Methods DNA samples and clinical data from structured interview records were obtained from the Swedish families in which ...
Karl De Geer, Kristina Lagerstedt‐Robinson, Daniel Nilsson, Cilla Söderhäll, Björn Hammar, Erik Björck   +5 more
wiley   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Examination of Runs of Homozygosity Distribution Patterns and Relevant Candidate Genes of Potential Economic Interest in Russian Goat Breeds Using Whole-Genome Sequencing. [PDF]

Genes (Basel)
Deniskova TE, Dotsev AV, Koshkina OA, Solovieva AD, Churbakova NA, Petrov SN, Frolov AN, Platonov SA, Abdelmanova AS, Vladimirov MA, Gladyr EA, Gusev IV, Lebedev SV, Griffin DK, Romanov MN, Zinovieva NA.   +15 more
europepmc   +1 more source