research Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms
Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.
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840-870 / 1000+ resultsresearch Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
research Application of PCR Technique to Detect Polymorphism of the KRTAP1.1 Gene in Three Sheep Breeds - A Review
The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
research 130 Expression of nidogen1 in basal cell carcinoma
Higher levels of nidogen1 and type IV collagen are found in basal cell carcinoma compared to normal skin.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
research Screening and Expression of Keratin EST in Xinji Fine Wool Sheep
Four keratin genes are crucial for hair growth in Xinji fine wool sheep.
research Identification of androgen-regulated genes in SV40-transformed human hair dermal papilla cells
Hsc70 protein may influence hair growth by responding to androgens.
research The Hairless Phenotype of the Hirosaki Hairless Rat Is Due to the Deletion of an 80-kb Genomic DNA Containing Five Basic Keratin Genes
Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Vitamin D receptor polymorphisms and the polycystic ovary syndrome: A systematic review
The review found no clear link between vitamin D receptor gene variations and polycystic ovary syndrome.
research Androgen receptor (AR) gene (CAG)n and (GGN)n length polymorphisms and symptoms in young males with long-lasting adverse effects after finasteride use against androgenic alopecia
Gene differences affect finasteride side effects in men with hair loss.
research Novel variant in WNT10A caused short anagen hair syndrome in a Chinese pedigree
A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia
A certain gene variation can affect protein production and is linked to male pattern baldness.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
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 25 Hydroxyvitamin D 1 α-Hydroxylase Is Required for Optimal Epidermal Differentiation and Permeability Barrier Homeostasis
The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Gsdma3 is required for hair follicle differentiation in mice
The Gsdma3 gene is essential for normal hair development in mice.
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 A novel 22-bp InDel within FGF7 gene is significantly associated with growth traits in goat
A specific gene variation in goats is linked to better growth traits.
research Netherton syndrome: effect on ichthyosis linearis circumflexa with dupilumab
Dupilumab improves eczema in Netherton Syndrome but not ichthyosis linearis circumflexa.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Modelling androgen synthesis and action during human sexual differentiation
Male sexual differentiation is regulated independently, while female differentiation occurs in an androgenic environment, affecting conditions like congenital adrenal hyperplasia.
research Identification of the Keratin-Associated Protein 22-2 Gene in the Capra hircus and Association of Its Variation with Cashmere Traits
A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
research Generating LacZ-reporter transgenic mice to identify α1 (XIX) Collagen (Col19a1) expression in Dermal Papilla Cells
Type XIX Collagen is present in specific skin and hair cells during development.
research Identification of Potential Biomarkers for Diagnosis of Patients with Methamphetamine Use Disorder
Gene expression in hair follicles can help diagnose methamphetamine use disorder.
research A 5'-upstream region of a bovine keratin 6 gene confers tissue-specific expression and hyperproliferation-related induction in transgenic mice.
A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.