Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.

This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.

This review explains methods for studying chromatin variation at the single-cell level using scATAC-seq and discusses integrating these measures with other omics platforms but reports no new results.

This study reports that sebaceous glands can regenerate after injury through stem cell plasticity, with hair-follicle-derived stem cells replacing sebaceous gland progenitors and playing a crucial role in the regeneration process, which is dependent on FGFR2 signaling and aided by hair growth induction.

This study found that ZP4 expression was highest among PCOS patients with regular menstrual cycles, which may be linked to mature follicle presence, but no correlation with clinical indices was observed.

This study found that SDR5A1 gene expression was similar between hirsute women, normal women, and men, suggesting it may not explain differences in hair growth among these groups.

This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.

This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.

This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.

This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.

This study found that genetic ablation of Tet genes in mice led to changes in hair structure and keratin gene expression, indicating a role for Tet-mediated 5hmC DNA oxidation in hair follicle development and cycling.

This study found that gene expression patterns can effectively distinguish the cashmere growth cycle stages and highlight molecular pathways, suggesting melatonin's role in regulating cashmere growth in Inner Mongolian goats.

This study reports that melatonin influences gene expression related to cashmere growth cycles in Inner Mongolian cashmere goats, potentially aiding in understanding and enhancing cashmere yield through molecular regulation.

This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.

This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.

This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.

This study found that overexpression of the FA2H gene in cashmere goats' hair follicle cells may enhance hair proliferation and regulate genes affecting cashmere fineness.

This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.

This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.

In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.

This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.

This case report suggests that poor hair and nail growth in children with autism spectrum disorder and developmental delay may indicate a biotin-responsive condition, as biotin and acetazolamide therapy improved symptoms and school performance in the reported patient.

This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.

This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.

This study identified key genes and signaling pathways involved in cashmere goat hair follicle growth cycles, influenced by melatonin implantation, suggesting a basis for further research on melatonin's regulatory mechanism.

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.

The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.

This report details a case of dystrophic epidermolysis bullosa in a 37-year-old male with a recessive mutation in the CLO7A1 gene, affecting type VII collagen.

Researchers discovered potential origins and new treatments for skin cancer, including biomarkers for melanoma and therapies that reduce tumor growth.