research Innate lymphoid cells type 1 may be new, non-antigen-specific player in the pathogenesis of alopecia areata
Innate lymphoid cells type 1 may contribute to alopecia areata by damaging hair follicles.
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120-150 / 1000+ results research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research Demethylation of ITGAV accelerates osteogenic differentiation in a blast-induced heterotopic ossification in vitro cell culture model
Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
research Intercellular Adhesion Molecule-1 and Hair Follicle Regression
ICAM-1 helps regulate hair growth cycles and skin remodeling.
research NEDD4 Transcript Variant 3 and IGF-1 as Molecular Markers in the Development and Prognosis of Keloids
High levels of NEDD4-TV3 and IGF-1 may predict and contribute to keloid formation.
research 879 Molecular network of Smads and Id2 genes in hair follicle stem cells regulation
The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».
The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Characterization of Primary Cilia and Intraflagellar Transport 20 in the Epidermis
Ift20 is essential for hair follicle function and skin cell movement.
research An evaluation of the RapidHIT™ ID system for hair roots stained with Diamond™ Nucleic Acid Dye
The RapidHIT ID system can effectively get DNA profiles from hair roots with enough cells.
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 Increased PHGDH expression promotes aberrant melanin accumulation
Higher PHGDH levels cause unusual melanin buildup in hair follicles.
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research Hard Keratin IF and Associated Proteins
research 516 Possible role of ILC1 in the pathogenesis of alopecia areata (AA)
ILC1 cells contribute to hair loss in alopecia areata.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Trichothiodystrophy
research Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle
Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
research 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 Inhibition of class I HDACs preserves hair follicle inductivity in postnatal dermal cells
Inhibiting class I HDACs helps maintain hair growth ability in skin cells.
research Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
research APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research 332 OTULIN maintains skin homeostasis by controlling keratinocyte death and stem cell identity
ILC1-like cells can cause alopecia areata by affecting hair follicles.