research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
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240-270 / 1000+ resultsresearch Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research 458 UVB-induced facultative pigmentation is associated with distinct DNA methylation changes
Tanning ability is linked to specific DNA changes in skin genes.
research Expression level of leucine-rich repeat containing 15 regulates characteristics of dermal papilla cells of human hair follicle
The gene LRRC15 is more active in balding areas of the scalp compared to non-balding areas.
research FoxN1 in K14 promoter-driven epithelium is required for generation and maintenance of 3D-thymus medulla and preventing nude phenotype in the skin (36.33)
FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
research Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men
A new gene, JMJD1C, may affect testosterone levels in men.
research Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans
The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
research Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study
The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research NAC1 directs CEP1-CEP3 peptidase expression and modulates root hair growth in Arabidopsis
NAC1 controls certain enzymes that reduce root hair growth in Arabidopsis.
research Regulation of cashmere fineness traits by noncoding RNA in Jiangnan cashmere goats
Noncoding RNAs help determine cashmere quality in goats.
research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21
A cluster of sulfur-rich hair protein genes was found on chromosome 17.
research Highly Upregulated Lhx2 in the Foxn1−/− Nude Mouse Phenotype Reflects a Dysregulated and Expanded Epidermal Stem Cell Niche
The Foxn1(-/-) nude mouse shows disrupted and expanded skin stem cell areas due to high Lhx2 levels.
research Localization and Regulation of Expression of the FAR-17A Gene in the Hamster Flank Organs
research Nitrate‐inducible NIGT1 proteins modulate phosphate uptake and starvation signalling via transcriptional regulation of SPX genes
Nitrate helps plants manage phosphate uptake and starvation responses through NIGT1 proteins.
research Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype
Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Keratin 15 promotes a progenitor cell state in basal keratinocytes of skin epidermis
Keratin 15 helps maintain skin cell growth and repair.
research Variation in the caprine keratin-associated protein 15-1 (KAP15-1) gene affects cashmere fibre diameter
The KRTAP15-1 gene affects cashmere fiber thickness in goats.
research Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation
Naked-mouse hair lacks certain proteins and has less soluble fibril.
research NEDD4 and NEDD4L regulate Wnt signalling and intestinal stem cell priming by degrading LGR5 receptor
NEDD4 and NEDD4L help control intestinal stem cells and prevent tumors by breaking down the LGR5 receptor.
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Correlation Analysis of CXCL10, FOS, HOXC13, and WNT4 Gene Polymorphisms with Key Economic Traits—Initial Population Screening for Jiangnan Cashmere Goats
Certain gene variations in Jiangnan cashmere goats are linked to important traits like birth weight and fiber quality, useful for breeding.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Nutritional Niche Construction and Local Adaptation: The Aquatic Resource-Driven Hypothesis of EDAR V370A in East Asia
The EDAR V370A allele in East Asians likely evolved due to reliance on aquatic resources providing essential nutrients.
research Nutritional Niche Construction and Local Adaptation: The Aquatic Resource-Driven Hypothesis of EDAR V370A in East Asia
The EDAR V370A allele in East Asians likely evolved due to reliance on aquatic resources providing essential nutrients.
research The Human Papillomavirus Type 11 Upstream Regulatory Region Triggers Hair-Follicle-Specific Gene Expression in Transgenic Mice
The HPV type 11 region activates hair-specific gene expression in mice.