research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
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780-810 / 1000+ resultsresearch Direct evidence supporting the existence of a helical dislocation in protofilament packing in the intermediate filaments of oxidized trichocyte keratin
Oxidized trichocyte keratin has a helical dislocation in its structure.
research Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss
Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research Analysis of genome DNA methylation at inherited coat-color dilutions of Rex Rabbits
Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research The transcriptional repressor CDP (Cutl1) is essential for epithelial cell differentiation of the lung and the hair follicle
CDP is crucial for lung and hair follicle cell development.
research Disturbed Keratinocyte Differentiation in Transgenic Mice and Organotypic Keratinocyte Cultures as a Result of Spermidine/Spermine N1-Acetyltransferase Overexpression
Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
research “Dark Cells” in Normal, Hyperplastic, and Promoter-Treated Mouse Epidermis Studied by Conventional and High-Voltage Electron Microscopy
research Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome
Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research Epidermal Dysplasia and Abnormal Hair Follicles in Transgenic Mice Overexpressing Homeobox Gene MSX-2
Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.
research Understanding The Molecular Mechanisms Of Hair Follicle Stem Cell Quiescence And Genome Plasticity
Runx1 and CDK inhibitors help keep hair follicle stem cells inactive, affecting their future roles.
research Abnormal epigenetic modifications in peripheral blood mononuclear cells from patients with alopecia areata
Epigenetic changes in blood cells may contribute to alopecia areata.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Hard alpha-keratin degradation inside a tissue under high flux X-ray synchrotron micro-beam: A multi-scale time-resolved study
High flux X-ray beams quickly damage the structure of human hair.
research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
research Genetic disorders of keratin: are scarring alopecias a sub-set?
Keratin mutations may cause scarring alopecia by damaging hair structure.
research Clinical Snippets
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
research Highly Upregulated Lhx2 in the Foxn1−/− Nude Mouse Phenotype Reflects a Dysregulated and Expanded Epidermal Stem Cell Niche
The Foxn1(-/-) nude mouse shows disrupted and expanded skin stem cell areas due to high Lhx2 levels.
research ASH2L mediates epidermal differentiation and hair follicle morphogenesis via H3K4me3 modification
ASH2L is essential for skin and hair development.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Structural Stability of Wild Type and Mutated α-Keratin Fragments: Molecular Dynamics and Free Energy Calculations
The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects
A mutation in mice causes hair loss and immune problems.
research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation
NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
research Insertional mutation of the hairless locus on mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.
research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.