research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
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720-750 / 1000+ resultsresearch Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Genetic analysis of interleukin 18 gene polymorphisms in alopecia areata
Certain IL-18 gene variations may increase the risk of alopecia areata.
research ANTI‐HAIR KERATIN MONOCLONAL ANTIBODY (HKN‐2)
HKN-2 antibody targets specific skin and hair cells, showing keratin complexity.
research Cytokine profiling of alopecia areata phenotypic subsets
Higher levels of IL-1a and IL-1RA were found in severe alopecia areata cases.
research P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
research Eruptive vellus hair cysts: an original case occurring in twins
Twins had rare skin cysts likely due to genetics.
research Isolated patchy heterochromia with pili annulati features on light and electron microscopy
Isolated patchy heterochromia with pili annulati can occur without other health issues.
research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research 3D analysis of facial morphology in Dutch children with cancer
Children with cancer had slightly more unusual facial shapes than healthy kids, but not enough to easily tell them apart.
research Association between TLR1 polymorphisms and alopecia areata
A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
research Frequency of neuro-psychiatric dysfunction in anti-SSA/SSB exposed children with and without neonatal lupus
Anti-Ro exposed children had more reported neuro-psychiatric issues, but differences from healthy controls were not significant.
research 413 DC-HIL+ myeloid-derived suppressor cells are elevated in the peripheral blood and lesional skin of cutaneous lupus patients
Cutaneous lupus patients have higher levels of certain immune cells in their blood and skin.
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 Eleven pairs of Japanese male twins suggest the role of epigenetic differences in androgenetic alopecia
Epigenetic differences affect hair loss in identical Japanese male twins.
research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.
research Effectiveness of Anastrozole and Cyproterone Acetate in Two Brothers with Familial Male Precocious Puberty
Anastrozole and cyproterone acetate treatment can help increase adult height in boys with testotoxicosis.
research Hyperandrogenism in a set of triplets with modification of clinical course by hyperthyroidism
Hyperthyroidism can hide signs of high androgen levels in females.
research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research Sparse Brittle Hair and Bilateral Temporal Alopecia in a Child
A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.
research 1381 Molecular mechanisms of donor dominance in androgenetic alopecia
Hair pattern in androgenetic alopecia overlaps with scalp and bone demarcations, with distinct gene profiles affecting susceptibility.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research [The complex detection of AB(O)-system antigens and of keratin polymorphism in the forensic medical study of hair].
A 5 cm hair sample can reveal blood type and keratin type for forensic use.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research Comparative evaluation of cytokine profiles in pediatric alopecia areata patients considering concomitant atopic diseases: An observational cohort cross-sectional study
Personalized treatment considering atopic status and cytokine profiles may help in managing pediatric alopecia areata.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research A case of familial trichomegaly with synophrys in association with loose anagen syndrome
A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
research Sequence and Expression of Murine Type I Hair Keratins mHa2 and mHa3
mHa2 and mHa3 keratins have different structures and roles in mouse hair and tongue tissues.
research Reply
AUC and APL are distinct conditions needing careful clinical assessment.