research The Near-Naked Hairless (Hr) Mutation Disrupts Hair Formation but Is Not Due to a Mutation in the Hairless Coding Region
The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
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810-840 / 1000+ resultsresearch Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study
Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
research Diversity of human skin three-dimensional organotypic cultures
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
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 Full investigation of patients with polycystic ovary syndrome (PCOS) presenting to four different clinical specialties reveals significant differences and undiagnosed morbidity
Many women with PCOS have undiagnosed health issues and show different symptoms based on the clinic they visit.
research 199 Hand preference and sexual orientation as useful elements to predict finasteride side effects in male androgenic alopecia
research Analogs of human genetic skin disease in domesticated animals
Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
research HOTTIP Mediated Therapy Resistance in Glioma Cells Involves Regulation of EMT-Related miR-10b
HOTTIP and miR-10b contribute to glioma therapy resistance by affecting cell behavior, suggesting they could be targets for treatment.
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 Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research Homozygous K5Cre transgenic mice have wavy hair and accelerated malignant progression in a murine model of skin carcinogenesis
Homozygous K5Cre transgenic mice have wavy hair and faster cancer progression.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research THE IMPACT OF HOMOCYSTEINE IN LUPUS ERYTHEMATOSUS: A LINK OF INFLAMMATION, SKIN AND CARDIOVASCULAR RISK
High homocysteine levels in lupus may increase inflammation and cardiovascular risk.
research Polymorphisms in androgen and estrogen receptor genes: effects on male aging
Changes in testosterone and estrogen receptor genes can affect how men age, influencing body fat, hair patterns, and possibly leading to skin disorders.
research MOESM1 of A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse
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 Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Hair Protein Polymorphism and Its Application to Forensic Science Hair Comparison.
Hair protein differences help identify species and individuals in forensic science.
research Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata
Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
research Androgen receptor gene CAG repeat polymorphism in women with polycystic ovary syndrome
Longer CAG repeat lengths in the androgen receptor gene are linked to higher testosterone levels in women with PCOS.
research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Genetic links between atopy, allergy, and alopecia areata: insights from a Mendelian randomization study
Allergies and atopic conditions may increase the risk of developing alopecia areata.
research Human genetic basis of coronavirus disease 2019
Genetic differences affect COVID-19 severity and treatment development.
research The mouse frizzy (fr) and rat ‘hairless’ (frCR) mutations are natural variants of protease serine S1 family member 8 (Prss8)
The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
research The malignant capacity of skin tumours induced by expression of a mutant H-ras transgene depends on the cell type targeted
The risk of skin tumors becoming malignant depends on the specific skin cell type affected.