research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
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90-120 / 1000+ resultsresearch A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
research Ox40-Cre–mediated deletion of BRD4 reveals an unexpected phenotype of hair follicle stem cells in alopecia
Deleting the BRD4 protein in certain skin cells causes hair loss and skin inflammation.
research Phase separation: a new window in RALF signaling
LLPS is crucial for RALF signaling, aiding plant growth and stress resilience.
research Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
research Folliculotropic Mycosis Fungoides with Skewed T-cell Receptor CDR3 Motif: Suggestive of Lipid-antigen Selection?
Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.
research Transdifferentiation of Human Hair Follicle Mesenchymal Stem Cells into Red Blood Cells by OCT4
Human hair follicle stem cells can be turned into red blood cells.
research Hairless protein of Jumonji family and hair loss
Mutations in the hairless protein gene cause hair loss.
research Hairless: A nuclear receptor corepressor essential for skin function
The Hairless gene is crucial for healthy skin and hair growth.
research Frontal fibrosing alopecia: reflections and hypotheses on aetiology and pathogenesis
FFA's causes may include environmental triggers and genetic factors.
research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
The hr gene is linked to hair loss in Valle del Belice sheep.
research Excimer 308-nm laser for the treatment of frontal fibrosing alopecia: an observational study in 30 patients
The excimer laser is a promising and safe treatment for frontal fibrosing alopecia.
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research The accelerated aging skin in rhino‐like SHJHhr mice
The SHJH hr mice with a mutated Hr gene show signs of faster skin aging due to poor antioxidative protection.
research Hypomorphic mutation in the hairless gene accelerates pruritic atopic skin caused by feeding a special diet to mice
A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
research Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
research 1438 KLF4 maintains hair follicle stem cell quiescence
KLF4 is important for keeping hair follicle stem cells inactive.
research 1493 Dynamic changes in fibroblast subpopulations drives development of radiation-induced skin fibrosis through the fra/c-jun pathway
Radiation treatment causes skin fibrosis by increasing certain fibroblast subpopulations, but using a c-Jun inhibitor or fat grafting can reduce this effect.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Tissue and Circulating MicroRNA Co-expression Analysis Shows Potential Involvement of miRNAs in the Pathobiology of Frontal Fibrosing Alopecia
Certain microRNAs might help identify and understand Frontal Fibrosing Alopecia.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research 261 Tissue and circulating microRNA co-expression analysis reveals potential involvement of miRNAs in the pathobiology of frontal fibrosing alopecia
Certain miRNAs might be involved in a hair loss condition called frontal fibrosing alopecia and could possibly help in its diagnosis.
research Partial interchangeability of Fz3 and Fz6 in tissue polarity signaling for epithelial orientation and axon growth and guidance
Fz3 and Fz6 can partially replace each other in tissue polarity and axon guidance.
research To study hypoactive sexual desire disorder in a fragile X carrier female successfully treated with local testosterone application
Local testosterone treatment improved sexual desire in a female with fragile X syndrome.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
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 Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research Defective control of growth rate and cell diameter in tip-growing root hairs of therhd4mutant ofArabidopsis thaliana
The RHD4 gene is crucial for consistent root hair growth in Arabidopsis thaliana.