research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
Search
for
Sort by
Research
870-900 / 1000+ resultsresearch Commentary 2
Genetic factors play a major role in acne.
research Genetic architecture of mouse skin inflammation and tumour susceptibility
Lgr5 and the vitamin D receptor are key in controlling skin inflammation and tumor risk in mice.
research Clinical Snippets
Vitamin D helps protect skin, PSORS1 gene's risk interval for psoriasis is expanded, hair follicles can be generated from mouse cells, and interferon-γ may cause pigmented skin lesions.
research Lineage Commitment of Dermal Fibroblast Progenitors is Mediated by Chromatin De-repression
Skin cell types develop when specific genes are turned on by removing certain chemical tags from DNA.
research Imprinted Dlk1-Gtl2 cluster miRNAs are potential epigenetic regulators of lamb fur quality
miRNAs in the Dlk1-Gtl2 region may improve lamb fur quality.
research 318 The Wnt-inhibitor Dkk4 is required for primary hair follicle induction and patterning
Dkk4 protein is necessary for the proper development and arrangement of hair follicles.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Bone Morphogenetic Protein Antagonist Noggin Promotes Skin Tumorigenesis via Stimulation of the Wnt and Shh Signaling Pathways
Noggin promotes skin tumors by activating certain cell signaling pathways.
research Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
research Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research Vitamin D activates type A natriuretic peptide receptor gene transcription in inner medullary collecting duct cells
Vitamin D boosts a specific gene activity in kidney cells that could improve heart and kidney function.
research A 5'-upstream region of a bovine keratin 6 gene confers tissue-specific expression and hyperproliferation-related induction in transgenic mice.
A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
research Alopécie frontale fibrosante : à propos de trois cas pédiatriques
Frontal fibrosing alopecia can occur in children, not just postmenopausal women.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research A Group of Type I Keratin Genes on Human Chromosome 17: Characterization and Expression
Only one of the two K16 genes on chromosome 17 makes a functional protein for keratin filaments.
research Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
research Retardation of Hair Follicle Development by the Deletion of TrkC, High-Affinity Neurotrophin-3 Receptor
Lack of TrkC receptor delays hair follicle development.
research iNOS inhibits hair regeneration in obese diabetic (ob/ob) mice
iNOS contributes to hair loss in obese diabetic mice and blocking it may encourage hair growth.
research Melanocortin receptors in fibroblastic cell types of the skin –in vitro and in vivo expression and functional relevance
MC-1R is present in skin cells and may help reduce inflammation.
research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research Mutation of the GDP-Fucose Biosynthesis Gene gmds Increases Hair Cell Number and Neuromast Regenerative Capacity in Zebrafish
Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
research Nuclear Topology, Epigenetics, and Keratinocyte Differentiation
Nuclear shape and chromatin changes affect gene expression in skin cell differentiation.
research A genome‐wide association study identified a genetic variant associated with hair thinning in Japanese women
A genetic variant linked to hair thinning in Japanese women was found.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research 874 Chromatin architectural protein CTCF controls epidermal barrier formation, hair follicle fate maintenance and suppresses inflammatory responses in the skin epithelium
The protein CTCF is essential for skin development, maintaining hair follicles, and preventing inflammation.
research Fgf9 from dermal γδ T cells induces hair follicle neogenesis after wounding
A protein from certain immune cells is key for new hair growth after skin injury in mice.