Results 151 to 160 of about 103,612 (258)

Chromodomain Helicase DNA–Binding Proteins and Spermatogenesis: Current Advances

open access: yesAndrology, EarlyView.
ABSTRACT Background Male infertility is a prevalent clinical condition, with approximately one‐third of cases classified as idiopathic, frequently stemming from impaired spermatogenesis because of dysregulated gene expression. Chromodomain helicase DNA‐binding (CHD) proteins are central chromatin remodelers that orchestrate this epigenetic regulation ...
Mingrui Zhang   +4 more
wiley   +1 more source

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

open access: yesAndrology, 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   +12 more
wiley   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic   +10 more
wiley   +1 more source

Chromosome segregation dynamics during the cell cycle of Staphylococcus aureus. [PDF]

open access: yesNat Commun
Izquierdo-Martinez A   +8 more
europepmc   +1 more source

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki   +10 more
wiley   +1 more source

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

open access: yesActa 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   +5 more
wiley   +1 more source

Molecular basis of ParA ATPase activation by the CTPase ParB during bacterial chromosome segregation. [PDF]

open access: yesNat Commun
Schnabel L   +10 more
europepmc   +2 more sources

Author Correction: An extrinsic motor directs chromatin loop formation by cohesin

open access: yesThe EMBO Journal
Thomas M Guérin   +4 more
doaj   +1 more source

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