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In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

This study found that Dab2 conditional knockout mice experienced delayed hair follicle cycles and reduced hair follicle stem cell activity, suggesting Dab2's crucial role in regulating stem cell activation and anti-aging process in hair follicles.

This study reports the cloning and sequencing of two type II hair-specific keratin genes, ghHb1 and ghHb6, located on chromosome 12q13, which are expressed during hair growth.

This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.

This study demonstrated that both HR isoforms are expressed in keratinocytes, but HRDelta1072-1126 lacks corepressor activity and may act as a coactivator by inhibiting HDAC recruitment to the VDR transcriptional complex.

This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.

This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.

This study found that HBV infection altered steroid metabolism in male mice, significantly increasing levels of dehydroepiandrosterone and reducing dihydrotestosterone, which may suppress viral replication by affecting HBV promoter activity.

This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.

In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.

This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

This study found that Hairless (Hr) acts as a corepressor of the vitamin D receptor (VDR) in human keratinocytes, blocking the action of vitamin D on keratinocyte differentiation.

This study explored the effects of DPP, a 15-PGDH inhibitor, on human follicle dermal papilla cells damaged by dihydrotestosterone and observed that DPP enhanced wound healing, reduced reactive oxygen species, and increased hair growth in ex vivo human hair follicle cultures.

This study found that patient-derived HGF significantly accelerates wound healing in diabetic mice, particularly improving skin structure and flexibility, and rHGF plays a key role in boosting hair growth.

This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.

This study found that the 15-PGDH inhibitor DPP improved endothelial function in hair-related cells exposed to DHT by reducing oxidative stress and enhancing angiogenic capacity.

hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.

Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.

A specific gene mutation causes sparse, brittle hair in a family.

This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.

This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.

This article discusses the functions of the enzyme 17beta-HSD10, including its role in steroid metabolism and potential links to Alzheimer's disease, but reports no new experimental findings.

This study found that measuring 24-OHase induction by 1,25(OH)2D3 in cultured skin fibroblasts is a sensitive test for detecting genetic defects in the 1,25(OH)2D effector pathway.

This study demonstrated that lactate dehydrogenase activity is notably high in quiescent hair follicle stem cells within mouse skin using a specific enzymatic activity assay.

This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.

This study observed that dermatological disorders such as diffuse alopecia and pruritus were common among hematology patients, indicating the importance of dermatology consultations in their management.

This study found that betibeglogene autotemcel significantly improved transfusion independence in 89% of patients with transfusion-dependent beta-thalassemia, although the high cost and manufacturing challenges may limit widespread adoption.

This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.