Results 221 to 230 of about 8,739 (269)

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

Variants in ZZS Complex‐Associated Genes TEX11 and M1AP Are Responsible for Male Infertility and Nonobstructive Azoospermia

Andrology, EarlyView.
ABSTRACT Background Nonobstructive azoospermia (NOA) is the most severe form of male infertility, with genetic factors contributing to approximately 30% of cases. However, only a small fraction of all NOA cases can be explained by the current genetic findings.
Ao Ma, Hongyi Wang, Shengwei Ke, Ziqi Yu, Xun Wang, Zhiran Li, Yuhang Li, Lv Yao, Fuxing Zhang, Feifei Kong, Lingying Jiang, Xiaozhi Zhao, Beibei Zhang   +12 more
wiley   +1 more source

Analyzing Runs of Homozygosity Reveals Patterns of Selection in German Brown Cattle. [PDF]

Genes (Basel)
Wirth A, Duda J, Emmerling R, Götz KU, Birkenmaier F, Distl O.   +5 more
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

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

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

Using Runs of Homozygosity and Machine Learning to Disentangle Sources of Inbreeding and Infer Self-Fertilization Rates. [PDF]

Genome Biol Evol
Zeitler L, Gilbert KJ.
europepmc   +2 more sources

Runs of homozygosity analysis for selection signatures in the Yellow Korean native chicken. [PDF]

Anim Biosci
Kim J, Macharia JK, Kim M, Heo JM, Yu M, Choo HJ, Lee JH.   +6 more
europepmc   +1 more source

Learning Across the Divide: Understanding Knowledge Sharing Through Petrographic Analysis on Ceramics From the Rhine‐Meuse Delta During the Middle to Late Neolithic Transition (3400–2200 bce)

Archaeometry, EarlyView.
ABSTRACT Vlaardingen (VL) communities on the Dutch West coast (3400–2200 bce) are part of a unique, long‐term continuity in the European Neolithic. Despite large‐scale changes in European populations during the Neolithic, the genomic diversity and cultural practices of VL communities can be retraced to the Mesolithic.
Jisca de Bruin, Erik Kroon, Lasse van den Dikkenberg, Dennis Braekmans   +3 more
wiley   +1 more source