Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.

In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.

This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.

This study identified multiple loss of function variants in the HR gene linked to the unique hair coat phenotype in lykoi cats, also known as werewolf cats.

This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.

This study reported that the Undiagnosed Disease Program at Ghent University Hospital successfully provided definite diagnoses for 18% of referred adults with suspected rare diseases, primarily through genomic technologies.

This study observed that in patients with diabetic foot ulcers, an imbalance in skin microbiota, with increased pathogenic bacteria, contributes to infection and poor wound healing, and suggests that modulating microbiota composition might improve healing outcomes.

This pilot study explored a new method using laser-capture microdissection and 16S rRNA gene sequencing to analyze the human scalp hair follicle microbiome more accurately, revealing region-specific variations in microbial diversity and abundance.

This study characterizes gene expression patterns in embryonic hair follicle progenitors and their niche, identifying signaling pathways like axon guidance that may drive cellular rearrangements for hair follicle formation.

This study identified highly variable genes in mesenchymal stem/stromal cells that are linked to classic functions like development and inflammation response, suggesting their potential as markers for further potency studies.

This case report describes the first confirmed instance of trichodysplasia spinulosa in a child with Down syndrome and leukemia, linking it to the TS-associated polyomavirus.

This study found that regulatory sequences crucial for inducing K6a expression in response to epidermal injury are located in specific upstream regions of the K6a gene in transgenic mice.

This study identified key long non-coding RNAs and mRNAs involved in primary wool follicle induction in carpet wool sheep, emphasizing their roles in hair follicle development and skin processes.

This study revealed that BMP5 in onychofibroblasts may play a key role in the differentiation of nail matrix keratinocytes, highlighting transcriptional similarities between nail and hair structures.

This study examined the effects of WNT10B on dermal papilla cells in vitro, finding that it alters gene expression, decreases protein synthesis, and upregulates a specific signaling pathway, potentially influencing hair follicle morphogenesis.

This study identified 2574 differentially expressed genes in the hair follicles of Wan strain Angora rabbits, suggesting that these genes may influence wool fiber diameter and quality.

In this study, researchers observed significant differences in hair follicle microbiome diversity and microbial composition between hair loss and healthy groups, uncovering specific patterns and functional changes associated with female pattern hair loss, which may aid future targeted approaches for androgenetic alopecia.

This study examined the cytodifferentiation stage of hair follicle development in cashmere goats, identifying nine cell populations and key regulatory pathways, including transcription factors and keratin genes, that may influence fiber quality and inform breeding strategies.

This study found that melatonin supplementation significantly promoted hair regeneration in a hair depilation mouse model by up-regulating the Wnt/β-catenin signaling pathway in dermal papillae and hair follicle stem cells, suggesting potential implications for human hair loss treatments.

This study suggests that hemoglobin α expression in the epidermis is induced by oxidative stress and may function as an antioxidant, contributing to skin barrier function.

This study used single-cell RNA sequencing to analyze 26,573 cells from the scapular skin of yaks, identifying 11 major cell types and providing insights into the diversity and morphogenesis of hair follicle cell types through detailed maps of DP cells and dermal fibroblasts.

This study reported that mammary stem cells in terminal end buds of the mammary gland primarily contribute to branching morphogenesis through dynamic positional regulation and cellular rearrangement.

This study suggests that the CXCL8 gene may regulate cashmere fineness in Liaoning cashmere goats, providing new insights into the cellular mechanisms of cashmere growth and quality.

This study found that inserting the Tβ4 gene into cashmere goats increased cashmere yield by 74.5% without compromising quality, suggesting potential economic benefits for goat breeding.

This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.

This case report describes a 16-month-old girl with atypical acrodermatitis enteropathica who showed marked improvement after zinc supplementation despite normal serum zinc levels.

This study found that sheep possess a polymorphic KAP8-2 gene that shares high sequence identity with the KAP8-2 gene in goats and reindeer.

This study found that the loss of a functional hr gene in mice leads to premature and abnormal hair follicle regression, disrupting normal hair cycling and architecture.

In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.

In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.