research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
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research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Isolation and Characterization of Human Repetin, a Member of the Fused Gene Family of the Epidermal Differentiation Complex
Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
research Pharmacological BACE1 and BACE2 inhibition induces hair depigmentation by inhibiting PMEL17 processing in mice
Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report
Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
research ER71/ETV2 Promotes Hair Regeneration from Chemotherapeutic Drug-Induced Hair Loss by Enhancing Angiogenesis
The protein ER71/ETV2 helps regrow hair after chemotherapy by improving the growth of new blood vessels.
research ISID1338 - Epidermal growth factor receptor protects from immune privilege collapse and scarring hair follicle destruction
EGFR helps protect hair follicles from damage and scarring.
research Identification and characterization of the hamster polyomavirus middle T antigen
The hamster polyomavirus middle T antigen is linked to tumors in hamsters and associates with a specific tyrosine kinase.
research Screening and expression validation of key proteins for secondary hair follicle growth in cashmere goats based on iTRAQ quantitative proteomics technology
FKBP10 and FBN2 are key proteins for hair growth in cashmere goats.
research Dab2 (Disabled-2), an adaptor protein, regulates self-renewal of hair follicle stem cells
Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
research Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters
Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Deletion of an Enhancer in FGF5 is Associated With Ectopic Expression in Goat Hair Follicles and the Cashmere Growth Phenotype
A genetic variant in goats is linked to cashmere growth.
research Expression of the human Cathepsin L inhibitor hurpin in mice: skin alterations and increased carcinogenesis
Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.
research Potential Role of the Epidermal Differentiation Complex in the Pathogenesis of Psoriasis
The role of certain genes in skin cell development may be linked to psoriasis, but the connection is unclear.
research VEGF induces proliferation of human hair follicle dermal papilla cells through VEGFR-2-mediated activation of ERK
VEGF promotes hair follicle cell growth through the VEGFR-2/ERK pathway.
research Dissection of genetic variation and evidence for pleiotropy in male pattern baldness
Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.
research Identification of transcriptional targets of Wnt/β-catenin signaling in dermal papilla cells of human scalp hair follicles: EP2 is a novel transcriptional target of Wnt3a
Wnt3a activates certain genes in hair follicle cells, including a newly discovered one, EP2, which may affect hair growth.
research Beyond Wavy Hairs
EGFR signaling is crucial for skin and hair health, and targeting it could help treat skin diseases and cancer.
research Polymorphism of Exon V of prolactin gene and its association with Cashmere traits in Changthangi Pashmina goats
The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
research p53‐dependent transcriptional regulation of EDA2R and its involvement in chemotherapy‐induced hair loss
The study concludes that the EDA2R gene is activated by p53 during chemotherapy but is not necessary for chemotherapy-induced hair loss.
research A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Oral Presentations
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research Ptch2 is a Potential Regulator of Mesenchymal Stem Cells
Ptch2 plays a key role in controlling stem cell function and the ability to regenerate after birth.
research A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms
Scientists discovered two versions of a new human hair keratin gene.
research AKT2 Gene Polymorphisms, sRANKL/OPG and Hormone Measurements in Polycystic Ovarian Syndrome (PCOS) Women
Certain gene variations in AKT2 are more common in women with PCOS and are linked to higher levels of specific hormones and symptoms.
research sc-eQTL unveil Immunogenetic Architecture of Polycystic Ovary Syndrome
PCOS involves genetic and immune factors, especially T cells, affecting its development.