research Involvement of ILC1-like innate lymphocytes in human autoimmunity, lessons from alopecia areata
ILC1-like cells can cause alopecia areata by attacking hair follicles.
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research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
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 Co‐regulatory mechanisms and potential markers of oxidative stress‐related genes in vitiligo and alopecia areata
KLB and EIF3C genes are key for early diagnosis of vitiligo and alopecia areata.
research Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
research A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
A gene mutation causes woolly hair in a Syrian patient.
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.
research SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
research The genetic evolution of skin squamous cell carcinoma: tumor suppressor identity matters
The type of tumor suppressor gene lost affects the behavior of skin cancer.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research 315 Butyrophilin-like 2 (BTNL2) controls auto-aggressive dermal γδT lymphocytes that attack human hair follicles.
BTNL2 helps protect hair follicles from immune attacks.
research A Novel Serine Protease Overexpressed in the Hair Follicles of Nude Mice
A new enzyme, BSSP, is found in high amounts in the hair follicles of nude mice.
research COLOCALIZATION OF ALOPECIA AREATA AND LICHEN PLANUS
Alopecia areata and lichen planus can occur together in children, which is important for diagnosis and treatment.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research Lichen simplex chronicus on the scalp: Broom fibers on dermoscopy; gear wheel sign and hamburger sign on histopathology
Lichen simplex chronicus on the scalp can be diagnosed by specific hair and skin signs and treated with corticosteroids and therapy.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research ANALYSIS OF CTLA 4 GENE +49A/G AND CT60 A/G POLYMORPHISMS IN ALOPECIA AREATA PATIENTS
CT60 polymorphism might increase the risk of Alopecia Areata.
research Hair follicle specific ACVR1/ALK2 critically affects skin morphogenesis and attenuates wound healing
Overexpression of ALK2 in hair follicles disrupts skin development and slows wound healing.
research Mutation of a type II keratin gene (K6a) in pachyonychia congenita
research 0750 Proteomics and transcriptomics profiling define molecular subtypes of advanced cutaneous T cell lymphoma and prognostic biomarkers
Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.
research The spectrum of hair loss in patients with mycosis fungoides and Sézary syndrome
Some patients with mycosis fungoides or Sézary syndrome experience hair loss, which may be similar to alopecia areata or linked to skin lesions, possibly due to abnormal T cells, and bexarotene can help treat it.
research Susceptibility variants for male-pattern baldness on chromosome 20p11
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research A New Subtype of Lichen Planopilaris Affecting Vellus Hairs and Clinically Mimicking Androgenetic Alopecia
New LPP subtype affects vellus hairs, mimics AGA, and needs biopsy for diagnosis.
research The occurrence of the ε-(γ-glutamyl)lysine cross-link in the medulla of hair and quill
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.