Results 221 to 230 of about 10,735 (306)

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

open access: yesAndrology, 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   +8 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

On 3‐MMC: A Cathinone I Have Come to Know and Love

open access: yesAnthropology of Consciousness, EarlyView.
ABSTRACT This article attempts to complicate the mythology of a compound in a state of becoming. I will trace lightly its origins as a cultural disruptor and how I am implicated in this imperative. Introducing you to 3‐MMC will require multiple modes of storytelling and taking of liberties, drawing on literature reviews, practice‐based research, prose,
Carmen Ostrander
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

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

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