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Two deleterious protein‐truncating NLRP2 variants were identified in a patient with female infertility, four early miscarriages, and one failed attempt of intracytoplasmic sperm injection. The variants mediate mRNA decay and alter NLRP2 structure and interactions with other members of the SCMC.
Zeynep Yalcin+8 more
wiley +1 more source
Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut+7 more
wiley +1 more source
PDHA2, a testis‐specific subunit of pyruvate dehydrogenase, is required for the conversion of pyruvate to acetyl‐CoA. Its absence results in decreased acetyl‐CoA and precursors for metabolites and energy during spermatogenesis. This results in decreased histone acetylation, defective chromosome structure and moderately reduced crossovers, ultimately ...
Guoqiang Wang+9 more
wiley +1 more source
Transcriptional and translational characteristics during goat oocyte maturation and identification of key factors, including GTPBP4, for prepubertal goat oocyte maturation. ABSTRACT The intricate mechanisms driving oocyte maturation remain only partially understood, especially within the domains of domestic animal reproduction and translational ...
Jianpeng Qin+21 more
wiley +1 more source
Our study demonstrated the downregulation of GPD1L and its mediated glycerophospholipid metabolism dysfunction in patients with diminished ovarian reserve. Moreover, we verified that GPD1L knockdown leads to increased cell apoptosis and mitochondrial dysfunction of KGN cells, as well as impaired oocyte quality.
Jiaqi Wu+8 more
wiley +1 more source
RNF187 mediates the polyubiquitination and subsequent degradation of WDR77, reduces H4R3me2s catalysed by the WDR77/PRMT5 complex, and derepresses the transcription of EGR1, thereby promoting the proliferation and migration of human SSCs. ABSTRACT The E3 ubiquitin ligase RNF187, also known as RING domain AP1 coactivator‐1, is a member of the RING ...
Haoyue Hu+12 more
wiley +1 more source
ECH protects senescent oocytes by stabilising the cytoskeleton, restoring mitochondrial function, reducing oxidative stress and maintaining cellular homeostasis, primarily through the GJA1/SIRT1 signalling pathway. ABSTRACT As maternal age increases, the decline in oocyte quality emerges as a critical factor contributing to reduced reproductive ...
Liuqing Yang+13 more
wiley +1 more source
YKT6 Is Essential for Male Fertility by Promoting Meiosis Progression During Spermatogenesis of Mice
Specifically ablating Ykt6 in pre‐meiotic germ cells and meiotic spermatocytes leads to complete sterility and meiotic arrest in conditional knockout male mice. YTK6 is required for stabilising intercellular bridges between spermatocytes due to its key role in maintaining protein homeostasis and vesicular transport‐dependent functions in spermatocytes,
Jie Cen+8 more
wiley +1 more source
Multiple mating is not driven by size and sperm management in black soldier fly (Hermetia illucens)
We investigated mating in black soldier fly (BSF), Hermetia illucens (Diptera: Stratiomyidae), an important source of animal feed. The number of spermatozoa stored in the spermathecae of females does not change after one, two and three matings of the male. BSF males and females mate multiple times under controlled conditions. The number of sperm in the
Frédéric Manas+4 more
wiley +1 more source
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The Lancet, 1973
The letter writers remark upon the discord among clinicians and pathologists shown by the correspondence in this journal following the writers suggestion (March 24 p.663) that semen-counts may be unnecessary provided 20 ejaculations have occurred after an effective vasectomy procedure.
Ian Craft, Peter Diggory, H.C.M. Walton
+17 more sources
The letter writers remark upon the discord among clinicians and pathologists shown by the correspondence in this journal following the writers suggestion (March 24 p.663) that semen-counts may be unnecessary provided 20 ejaculations have occurred after an effective vasectomy procedure.
Ian Craft, Peter Diggory, H.C.M. Walton
+17 more sources