research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
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600-630 / 1000+ resultsresearch Characterization of the Human Hair Keratin–Associated Protein 2 (KRTAP2) Gene Family
KRTAP2 genes are crucial for hair structure and may impact hair disorders and treatments.
research The human promyelocytic leukemia protein is a tumor suppressor for murine skin carcinogenesis
The PML protein helps prevent skin cancer in mice.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
research Male polycystic ovarian syndrome phenotype: a meta-analysis of endocrine-metabolic dysregulation in fathers and brothers of PCOS-affected women
Male relatives of women with PCOS show similar health issues, suggesting a male version of the condition.
research The citrullinating enzyme PADI4 governs progenitor cell proliferation and translation in developing hair follicles
PADI4 enzyme slows down cell growth in developing hair follicles.
research BJD Editor's Choice
Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
research Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness
A gene called HDAC9 might be a new factor in male-pattern baldness.
research 원저 : 한국인 안드로겐 탈모증 환자에서 안드로겐 수용체의 CAG 반복 다형성에 관한 연구 -Preliminary Report-
CAG repeat numbers in the AR gene likely don't affect male pattern baldness in Korean men.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research 169 Clinical features, etiologic factors, treatment, and comorbidities of palmoplantar pustulosis: a retrospective single-center study
Smoking and certain health conditions like thyroid disease may make palmoplantar pustulosis harder to treat.
research 26-SNP Panel Aids Guiding Androgenetic Alopecia Therapy and Provides Insight into Mechanisms of Action
Genetic profiling can improve androgenetic alopecia treatment by predicting drug response and minimizing side effects.
research Genetic effects of vascular endothelial growth factor and its receptor 2 on feather maturity in three chicken breeds
VEGF and VEGFR-2 genes influence feather maturity, and specific genetic markers can improve chicken breeding.
research Table 3_Molecular mechanisms underlying cashmere quality differences between Jiangnan cashmere goats and Changthangi pashmina goats.xlsx
Key genes affect cashmere quality differences between Jiangnan and Changthangi goats.
research Adiponectin serum levels and ADIPOQ (rs2241766) polymorphism in alopecia areata Egyptian patients
Certain gene variations and low adiponectin levels may increase the risk of hair loss in Egyptians.
research Characterisation of Three Ovine KRTAP13 Family Genes and Their Association with Wool Traits in Chinese Tan Sheep
An allele of the KRTAP13-2 gene may improve wool quality in sheep.
research Genetic studies on the functional relevance of the protein prenyltransferases in skin keratinocytes
FTase and GGTase-I are essential for skin keratinocyte health.
research Construction of Cashmere Goat Embryos Carrying K2.9 Gene by Transgenic Somatic Cell Nuclear Transfer Technology
The technology can create transgenic cashmere goats with improved wool quality.
research Variation in the ovine keratin-associated protein 15-1 gene affects wool yield
Genetic variation in the KRTAP15-1 gene affects wool yield in sheep.
research Genomic Characterization of the Human Type I Cuticular Hair Keratin hHa2 and Identification of an Adjacent Novel Type I Hair Keratin Gene hHa5
research Distribution of P2X3‐immunoreactive fibers in hairy and glabrous skin of the rat
P2X3-IR fibers are widespread in rat skin and likely help detect pain.
research Reduced levels of 5-α reductase 2 in adult prostate tissue and implications for BPH therapy
Some men's prostate tissues have low enzyme levels due to genetic changes, possibly affecting treatment for prostate enlargement.
research Identification of Pygopus 2 as a component of the ribosomal RNA transcription complex in cancer
Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
research Increased PHGDH expression promotes aberrant melanin accumulation
Higher PHGDH levels cause unusual melanin buildup in hair follicles.
research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment
PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research Improved 2α-Hydroxylation Efficiency of Steroids by CYP154C2 Using Structure-Guided Rational Design
Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Studying Cytotoxic T-lymphocyte- Associated Antigen-4 (CTLA-4) gene Polymorphism in a Sample of Iraqi Women with Polycystic Ovarian Syndrome
The CTLA-4 gene change studied does not affect Polycystic Ovarian Syndrome in the women tested.