research ATP6AP1‐CDG: Follow‐up and female phenotype
In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
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5 / 101 resultsresearch Molecular mechanisms underlying cashmere quality differences between Jiangnan cashmere goats and Changthangi pashmina goats
This study investigated the genetic factors influencing cashmere quality differences between Jiangnan cashmere goats and Changthangi pashmina goats, identifying 4,942 differentially expressed genes and highlighting 24 key genes related to hair follicle development and cashmere fiber formation.
research The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
This study identified novel mitochondrial DNA variations in PCOS patients from Pakistan, which may serve as genetic predisposition markers, highlighting especially the potential pathogenicity of frameshift mutations in the MT-ND2 gene.
research Integrated transcriptomic and proteomic analysis reveals molecular mechanisms of melatonin-regulated hair follicle growth in cashmere goats and comparative insights across goat breeds
This study examined how melatonin affects cashmere growth in goats, identifying potential molecular targets like ATP6V0A4, DLX3, and SMOC2 for enhancing cashmere yield and quality.
research Construction of the coexpression network involved in the pathogenesis of thyroid eye disease via bioinformatics analysis
This study identified a coexpression network and key genes associated with thyroid eye disease, potentially aiding in its treatment and diagnosis.
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