research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
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research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research Comparative immunohistochemical analysis suggests a conserved role of EPS8L1 in epidermal and hair follicle barriers of mammals
research A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.
A genetic hair protein variant is more common in Japanese people and is inherited.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Krtap16, Characterization of a New Hair Keratin-associated Protein (KAP) Gene Complex on Mouse Chromosome 16 and Evidence for Regulation by Hoxc13
Hoxc13 regulates specific hair protein genes on mouse chromosome 16.
research Androgen Regulation of the Human Hair Follicle: The Type I Hair Keratin hHa7 Is a Direct Target Gene in Trichocytes
The hHa7 gene is regulated by androgens in certain body hair, not scalp hair.
research Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes
The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
research Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle
Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
research Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
research Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity
The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
research Characterization and Localization of Side Population Cells in Mouse Skin
Mouse skin has special cells in the epidermis that decrease with age and are linked to keratinocyte stem cells.
research Abstract C4: Sp2: A regulator of stem cell differentiation and tumorigenesis
Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
research Hair follicle stem cell replication stress drives IFI16/STING-dependent inflammation in hidradenitis suppurativa
Stress in hair follicle stem cells causes inflammation in a chronic skin condition through a specific immune response pathway.
research Context-dependent effect of sPLA2-IIA induced proliferation on murine hair follicle stem cells and human epithelial cancer
sPLA2-IIA increases growth in hair follicle stem cells and cancer cells, suggesting it could be targeted for hair growth and cancer treatment.
research Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous
Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
research The potential role of hsa_circ_0001079 in androgenetic alopecia via sponging hsa‐miR‐136‐5p
hsa_circ_0001079 may help diagnose and treat hair loss.
research Two-dimensional electrophoretic analysis of human hair keratins, especially hair matrix proteins
The method effectively analyzes human hair proteins, especially nonfilamentous ones.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research Detection of human papillomavirus type 56 DNA, belonging to a mucous high-risk group, in hair follicles in the genital area of a woman no longer suffering from viral warts
HPV type 56 can hide in hair follicles even without visible warts.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Hairless down-regulates expression of Msx2 and its related target genes in hair follicles
Hairless protein reduces Msx2 gene activity, affecting hair follicle development.
research AP-1 and TGFß cooperativity drives non-canonical Hedgehog signaling in resistant basal cell carcinoma
AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
research sPLA2-IIA Overexpression in Mice Epidermis Depletes Hair Follicle Stem Cells and Induces Differentiation Mediated Through Enhanced JNK/c-Jun Activation
Overexpression of sPLA2-IIA in mouse skin reduces hair stem cells and increases cell differentiation through JNK/c-Jun pathway activation.
research A group of type I keratin genes on human chromosome 17: characterization and expression.
Only one K16 gene on chromosome 17 makes a functional keratin protein.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.