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.
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research Symmetrical acrokeratoderma: A peculiar entity in China? Clinicopathologic and immunopathologic study of 34 new cases
Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
research A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
research Natural Killer Group 2 Type D (NKG2D) Gene Polymorphism in Systemic Lupus Erythematosus-Suez Canal Region - Egypt
NKG2D gene polymorphism doesn't affect SLE risk but may influence symptoms like rash and hair loss.
research BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
research BIOCHEMICAL AND HISTOCHEMICAL STUDIES ON WHITE, BROWN AND BLACK SKIN REGIONS OF THE GUINEA PIG
Brown skin in guinea pigs has more ascorbic acid and related enzymes, black skin uses ascorbic acid well, and white skin has the most protein.
research Erythromelanosis Follicularis Faciei: First Case Report from Saudi Arabia
A 17-year-old in Saudi Arabia was diagnosed with a rare skin condition causing red-brown facial patches.
research Abstract 5020: Characterization of epidermal stem cells in SKH1 hairless mice, a widely used mouse model to investigate ultraviolet radiation carcinogenesis.
SKH1 hairless mice have identifiable epidermal stem cells with specific markers.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research The influence of ESR1 polymorphisms on selected hormonal, metabolic and mineral balance markers in women with hyperandrogenism
Certain ESR1 gene variations may affect hormone levels and fat distribution in women with high male hormone levels.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Gene expression profiling analysis reveals fur development in rex rabbits (Oryctolagus cuniculus)
Gene expression affects fur development in rex rabbits.
research Skin morphology of the mutant hairless USP mouse
Hairless USP mice have enlarged skin cysts as they age.
research Familial Cortisol Resistance: Differential Diagnostic and Therapeutic Aspects
The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.
research Study on the Activity of Sheep High-sulfur Keratin Promoter
The B2C promoter works in sheep cells but not in mouse embryos.
research Effects of Tianqi trichogen on the hair growth of animals
Tianqi trichogen boosts hair growth in animals without causing allergies.
research Phenotypic and morphometric characterization of Janwal Pashmi dog
The Janwal Pashmi dog is a medium-sized, mostly black breed with specific body measurements, and adult males are generally larger than females.
research Association study reveals a susceptibility locus with male pattern baldness in the Han Chinese population
A specific genetic marker is linked to male pattern baldness in Han Chinese men.
research Comparison of hair manifestations in cardio‐facio‐cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth
The RAS pathway affects hair growth differently in CFCS and CS.
research Transcriptomic Analysis Reveals AKT1 Upregulation in Inner Mongolian Cashmere Goats at 12 and 15 Months of Age
AKT1 gene is crucial for better cashmere production in younger goats.
research Colourless side of the nude mutation: Foxn1 and hair pigmentation
Foxn1 is essential for hair pigmentation by directing pigment transfer to hair cells.
research Canonical prolactin signaling and global mRNA expression in the skin of Holstein heifers carrying the SLICK1 allele of the prolactin receptor gene
The SLICK1 allele in Holstein heifers affects hair and immune traits without altering prolactin signaling.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study
Certain genes may help Bulgarians live longer.
research Phenotypic comparison of Caucasian and Asian women with polycystic ovary syndrome: a cross-sectional study
Caucasian and Asian women with PCOS generally show similar symptoms, except Asian women have less chest hair.
research Expert Consensus on Big Data Collection of Skin and Appendage Disease Phenotypes in Chinese
research Transcriptome Dynamics Reveal Stage-Specific and Melatonin-Triggered Gene Expression Patterns During The Cashmere Growth Cycle in Capra Hircus
Melatonin affects certain genes and pathways involved in cashmere goat hair growth.
research FGFR2 is associated with hair thickness in Asian populations
A gene variation is linked to hair thickness in Asians.
research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research Imprinted Dlk1-Gtl2 cluster miRNAs are potential epigenetic regulators of lamb fur quality
miRNAs in the Dlk1-Gtl2 region may improve lamb fur quality.