research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
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research 570 Examining cutaneous disease activity as an outcome measure for clinical trials in dermatomyositis
Skin disease activity scores can help decide when skin symptoms no longer affect the quality of life in patients with mild dermatomyositis.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Lower prostate cancer risk in Swedish men with the androgen receptor E213 A-allele
Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.
research DAB-labelling for collagen type III and PDGFR as control on equine skin sections.
DAB labeling effectively identifies collagen type III and PDGFR in horse skin, but may show false positives.
research Hollow polydopamine nanoparticles loading with peptide RL-QN15: a new pro-regenerative therapeutic agent for skin wounds
HPDAlR nanoparticles greatly improve skin wound healing without toxicity.
research Quality of life measurement in alopecia areata. Position statement of the European Academy of Dermatology and Venereology Task Force on Quality of Life and Patient Oriented Outcomes
Use specific tools to measure quality of life in alopecia areata patients and improve future treatments.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Tru9I Variant as a Novel Genetic Marker for Vitamin D Deficiency in Alopecia Areata
The Tru9I variant in the VDR gene may influence alopecia areata risk and vitamin D levels.
research EDA2R Is Associated with Androgenetic Alopecia
EDA2R gene linked to hair loss.
research 1393 Human TMEM2 is not a hyaluronidase but a regulator of hyaluronan metabolism
Human TMEM2 does not break down hyaluronan but helps control its metabolism.
research 1373 Expression of programmed cell death 1 inversely correlated with the density of CD8+ T cells infiltrating hair follicles in alopecia areata
Higher PD-1 levels are linked to fewer immune cells in hair follicles in alopecia areata.
research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research Skin Lesions in a Daclizumab-treated Patient with Multiple Sclerosis
A patient with multiple sclerosis developed skin reactions after Daclizumab treatment, requiring more data on the drug's effects.
research 396 Vδ1 + T-cells are stress-sentinels in human skin and are implicated in alopecia areata pathogenesis
Vδ1+ T-cells in the skin contribute to hair loss in alopecia areata and could be targeted for treatment.
research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
The hr gene is linked to hair loss in Valle del Belice sheep.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research 127 Long-term remission of Hailey-Hailey disease by Er:YAG ablative laser therapy
Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites
research In vivo CD44‐CD49d complex formation in autoimmune disease has consequences on T cell activation and apoptosis resistance
The CD44-CD49d complex boosts T cell activation and survival in autoimmune disease.
research ISID1373 - Expression of programmed cell death 1 inversely correlated with the density of CD8+ T cells infiltrating hair follicles in alopecia areata
Higher PD-1 levels mean fewer CD8+ T cells in alopecia areata hair follicles.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.