research FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation
The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
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research Protein Kinase Cε, Which Is Linked to Ultraviolet Radiation-Induced Development of Squamous Cell Carcinomas, Stimulates Rapid Turnover of Adult Hair Follicle Stem Cells
PKC ε increases hair follicle stem cell turnover and may raise skin cancer risk.
research Mutation analysis of the typeIIhair keratin gene in a family of Han nationality with monilethrix
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research Genetic Polymorphisms of Immunity Regulatory Genes and Alopecia Areata Susceptibility in Jordanian Patients
CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.
research Primary cilia regulate Meibomian glands development and dimensions without impairing lipid composition of the meibum
Primary cilia affect the size and oil production of eye glands but not the oil's makeup.
research CXXC5 Mediates DHT-Induced Androgenetic Alopecia via PGD2
Targeting CXXC5 and GSK-3β may help treat male pattern baldness.
research The role of functional variants in the aetiology of polycystic ovary syndrome
A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
research Planar cell polarity-dependent and independent functions in the emergence of tissue-scale hair follicle patterns
Mice can correct hair follicle orientation without certain genes, but proper overall alignment needs those genes.
research Abstract 14
A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
research Hair Follicle Disruption Facilitates Pathogenesis to UVB-Induced Cutaneous Inflammation and Basal Cell Carcinoma Development in Ptch+/− Mice
Damaged hair follicles make mice more prone to skin inflammation and skin cancer after UV exposure.
research Progeroide Syndrome
Genetic mutations affecting DNA repair cause early aging symptoms in progeroid syndromes.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Genomewide analysis of copy number variants in alopecia areata in a C entral E uropean cohort reveals association with MCHR 2
MCHR2 gene duplications may be linked to alopecia areata.
research 744 Role of Sdf1-Cxcr4 signaling in mouse appendage regeneration
Mice without the p21 gene can fully regenerate injured ears due to reduced Sdf1 increase and leukocyte recruitment, suggesting new ways to induce tissue regeneration in mammals.
research SPECIFIC ECTODERMAL ENHANCERS CONTROL THE EXPRESSION OFHoxcGENES IN DEVELOPING MAMMALIAN INTEGUMENTS
The HoxC gene cluster and its enhancers are essential for developing hair and nails in mammals.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Differential metabolic adaptations define responses of winner and loser oncogenic mutant stem cells in skin epidermisin vivo
Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.
research Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
research Collagen triple helix repeat containing-1 promotes functional recovery of sweat glands by inducing adjacent microvascular network reconstruction in vivo
CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies
Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.
research The alopecia areata phenotype is induced by the water avoidance stress test in cchcr1-deficient mice
Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice
Scientists found a gene in mice that causes early hearing loss.
research 863 Central centrifugal cicatricial alopecia gene expression analysis revealed cholesterol, fatty acid, and mast cell pathways
Targeting cholesterol, fatty acids, fibrosis, and mast cells may help treat CCCA.
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 KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.