research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
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870-900 / 1000+ results research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research Decision letter: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research 420 Severe thiopurine-induced myelotoxicity and hair loss in Japanese patients with NUDT15 gene variant: A retrospective case-control study
Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research 5α-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia
Gene variant linked to prostate cancer, hormone levels, and hair loss.
research A Case of Basal Cell Carcinoma Arising in Congenital Triangular Alopecia
A woman with a rare hair loss condition developed skin cancer in the bald area.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research 507 Trial to investigate the role of ATP-sensitive potassium channels (KATPc) in dermal papilla cells (DPCs)
ATP-sensitive potassium channels are important for hair growth.
research Gsdma3 Mutation Causes Bulge Stem Cell Depletion and Alopecia Mediated by Skin Inflammation
A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research 712 Using scanning electron microscopy to elucidate the role of hair shaft malformation in the pathogenesis of Central Centrifugal Cicatricial Alopecia
Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Author response: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
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 Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Genetic analysis of 5 α reductase type 2 enzyme in relation to oxidative stress in cases of androgenetic alopecia in a sample of egyptian population
5α reductase type 2 enzyme mutation and oxidative stress may increase androgenetic alopecia risk in Egyptians.
research Molecular basis of androgen insensitivity
Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
research Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene
Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.