research Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes
Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
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660-690 / 1000+ results research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Spectrum of Phenotypes Associated with Human MC1R Variations
MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.
research 1270 Fibroproliferative genes are preferentially expressed in central centrifugal cicatricial alopecia
CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
research Cyclohex-1-ene Carboxylic Acids: Synthesis and Biological Evaluation of Novel Inhibitors of Human 5α Reductase
Scientists made new substances that can block an enzyme linked to prostate issues and hair loss, with potential for creating a new treatment.
research The Aldo-Keto Reductase AKR1B10 Is Up-Regulated in Keloid Epidermis, Implicating Retinoic Acid Pathway Dysregulation in the Pathogenesis of Keloid Disease
AKR1B10 enzyme may cause keloid scars and could be a treatment target.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Immunohistochemical expressions of mGluR5, P2Y2 receptor, PLC-?1, and IP3R-I and -II in Merkel cells in rat sinus hair follicles
research Gene-wide association study between the aromatase gene (CYP19A1) and female pattern hair loss
Aromatase gene variation may increase female hair loss risk.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Expression of the Intermediate Filament Keratin Gene,K15,in the Basal Cell Layers of Epithelia and the Hair Follicle
K15 gene is mainly active in the basal layers of hair follicles and epithelia, aiding early skin cell development.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research Few Simple Sequence Repeats in Human Hair
Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
research OXI1 kinase is necessary for oxidative burst-mediated signalling in Arabidopsis
OXI1 kinase is essential for plant defense and root hair growth in Arabidopsis.
research Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity
Impaired ABCA5 activity disrupts cholesterol balance in hair follicle cells, affecting hair growth.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research 5α Reductase Deficiency—a Rare Cause of Ambiguous Genitalia and Gender Dysphoria
5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
research Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research ACOD1 deficiency promotes DDX1 methylation–mediated mitochondrial dysfunction and dermal papilla cell senescence in androgenetic alopecia
ACOD1 deficiency worsens hair loss by causing cell aging and mitochondrial problems, but 4-OI may help.
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
research CRISPR/Cas9-mediated Disruption of Fibroblast Growth Factor 5 in Rabbits Results in a Systemic Long Hair Phenotype by Prolonging Anagen
Disrupting the FGF5 gene in rabbits leads to longer hair by extending the hair growth phase.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Skin-specific expression of a truncated E1a oncoprotein binding to p105-Rb leads to abnormal hair follicle maturation without increased epidermal proliferation.
The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
research Dihydrotestosterone Stimulates 5a-Reductase Activity in Pubic Skin Fibroblasts*
Dihydrotestosterone increases the activity of an enzyme in pubic skin cells that converts testosterone to dihydrotestosterone.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Reversal of alopecia areata, osteoporosis follow treatment with activation of Tgr5 in mice
Activating Tgr5 may help treat hair loss and bone loss.
research A function for Rac1 in the terminal differentiation and pigmentation of hair
Rac1 is crucial for normal hair structure and pigmentation.
research Novel 5α-reductase inhibitors unlinked to depression-like phenotypes in rat model of BPH
research A novel monoclonal antibody to the outer root sheath cells
The new antibody, TYHF-1, specifically targets certain hair-related structures.