research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
Search
for
Sort by
Research
750-780 / 1000+ resultsresearch Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Influence of TRPV3 mutation on hair growth cycle in mice
The TRPV3 gene mutation affects hair growth by keeping mice in the growth phase longer, which could help treat hair loss.
research Transgenic mice provide new insights into the role of TGF-alpha during epidermal development and differentiation.
TGF-alpha affects skin thickness, hair growth, and may contribute to psoriasis and papilloma formation.
research 1321 Low temperature and mTOR inhibition favor human epidermal stem cell maintenance
Keeping human skin stem cells is easier with low temperatures and mTOR inhibition.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research Fibrous Papule of the Face, Similar to Tuberous Sclerosis Complex-Associated Angiofibroma, Shows Activation of the Mammalian Target of Rapamycin Pathway: Evidence for a Novel Therapeutic Strategy?
Topical rapamycin may effectively treat fibrous papules on the face.
research THY1-mediated mechanisms converge to drive YAP activation in skin homeostasis and repair
Targeting THY1 can improve skin repair and healing.
research Telocytes in human skin – are they involved in skin regeneration?
Telocytes might help with skin repair and regeneration.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Comparative immunohistochemical analysis suggests a conserved role of EPS8L1 in epidermal and hair follicle barriers of mammals
research Localization of intercellular adhesion molecule-1 in middle ear cholesteatoma
research Targeted expression of SV40 T antigen in the hair follicle of transgenic mice produces an aberrant hair phenotype
SV40 T antigen in hair follicles causes abnormal hair and health issues in mice.
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 Urticaria Neonatorum: Accumulation of tryptase‐expressing mast cells in the skin lesions of newborns with Erythema Toxicum
Newborns with the common rash Erythema Toxicum have many active mast cells in their skin, but these cells don't produce the LL-37 peptide.
research Long-term time-lapse multimodal intravital imaging of regeneration and bone-marrow-derived cell dynamics in skin
The study introduced a new imaging technology to track skin healing and bone marrow cell activity over time.
research The pattern recognition receptor toll-like receptor 3 regulates skin barrier homeostasis
Toll-like receptor 3 helps repair the skin barrier after UV damage.
research Decision letter: IL18 signaling promotes homing of mature Tregs into the thymus
IL-18 signaling helps mature Tregs move into the thymus.
research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
research Cloning and Characterization of a Mouse Type I Hair Keratin cDNA
research Keratinocyte-specific ablation of the NF-κB regulatory protein A20 (TNFAIP3) reveals a role in the control of epidermal homeostasis
A20 protein is crucial for normal skin and hair development.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Excretion of technetium in human milk
research Isolation and Characterization of Human Repetin, a Member of the Fused Gene Family of the Epidermal Differentiation Complex
Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
research The extracellular matrix dictates regional competence for tumour initiation
The extracellular matrix affects where tumors can start in the body.
research [Construction and identification of mouse model with conditional knockout of p75 neurotrophin receptor gene in epidermal cells by Cre-loxP system].
Removing the p75 gene in mouse skin cells didn't affect their skin or hair growth.
research Col4a2-eGFPmouse model reveals the molecular and functional dynamics of basement membrane remodelling in hair follicle morphogenesis
Scientists made a mouse that shows how a specific protein in the skin changes and affects hair growth and shape.
research Pigmented Epithelioid Melanocytoma (PEM)/Animal Type Melanoma (ATM): Quest for an Origin. Report of One Unusual Case Indicating Follicular Origin and Another Arising in an Intradermal Nevus
The conclusion is that Pigmented Epithelioid Melanocytoma can start from hair follicle stem cells or from a mole on the skin.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research Abstract 5022: Keratin15 (Krt15) + are radio resistant and tumor-initiating cells in the mouse small intestine
Krt15+ cells in mice can resist radiation, regenerate tissue, and start tumors, suggesting new cancer treatment targets.