research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
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research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research 257 Is EBF1 a negative regulator of WNT10A in the development of androgenetic alopecia?
Finasteride helps female-pattern hair loss.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
The hr gene is linked to hair loss in Valle del Belice sheep.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research Mutation analysis of the typeIIhair keratin gene in a family of Han nationality with monilethrix
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
research Characterization of an autoimmune condition associated with AEC syndrome
Controlling Tslp can improve health in AEC syndrome patients.
research Cardiac biopsy in myocarditis
Some people have a genetic variation that makes them less effective at breaking down drugs.
research 675 Hair loss in hephaestin knockout mice is associated with iron deficiency
Iron deficiency causes hair loss by affecting hair differentiation and cycling.
research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research LB1053 Dysregulation of antioxidant enzyme PRDX5 in alopecia areata
PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
research [Genetic counseling in a case of neuro-ectodermosis: Vera Price trichothiodystrophy. Brittle hair with reduced sulfur content].
research Alopecia in Harlequin mutant mice is associated with reduced AIF protein levels and expression of retroviral elements
Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research N-terminal functional domain of Gasdermin A3 regulates mitochondrial homeostasis via mitochondrial targeting
Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
research Single nucleotide polymorphisms associated with elevated alanine aminotransferase in patients receiving asunaprevir plus daclatasvir combination therapy for chronic hepatitis C
Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
research Effects of the bovine slick mutation on heat stress responses and hair growth in mice
The mutation helps mice handle heat better without affecting hair growth.
research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
research Role of the Autoimmune Regulator (AIRE) gene in alopecia areata: Strong association of a potentially functional AIRE polymorphism with alopecia universalis
A specific gene change is linked to severe hair loss.
research Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.
The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
research Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene
The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
research Mutations in Homocysteine Metabolism Genes Increase Keratin N-Homocysteinylation and Damage in Mice
Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
research Expression of a dominant negative mutant of epidermal growth factor receptor in the epidermis of transgenic mice elicits striking alterations in hair follicle development and skin structure.
Blocking EGFR in mice causes hair loss and skin changes.
research Generating mouse models of degenerative diseases using Cre/lox-mediated in vivo mosaic cell ablation
The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Epidermal hyperplasia and oral carcinoma in mice overexpressing the transcription factor ATF3 in basal epithelial cells
Overexpressing ATF3 in mice's epithelial cells may lead to oral cancer.