research Homo- and heteropolymer self-assembly of recombinant trichocytic keratins
Recombinant keratins can form useful structures for medical applications, overcoming natural keratin limitations.
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630-660 / 1000+ results research An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
A Turkish woman has a hair condition caused by a LIPH gene mutation.
research The expanding significance of keratin intermediate filaments in normal and diseased epithelia
Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
research Keratin Gene Expression Differences in Wool Follicles and Sequence Diversity of High Glycine-Tyrosine Keratin-Associated Proteins (Kaps) in Magra Sheep of India
Magra sheep's wool luster is linked to specific keratin gene expression and protein variations.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research The first broad replication study of SNPs and a pilot genome‐wide association study for androgenetic alopecia in Asian populations
Two specific genetic markers increase the risk of hair loss in Asian populations.
research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia
A certain gene variation can affect protein production and is linked to male pattern baldness.
research Lineage commitment of dermal fibroblast progenitors is controlled by Kdm6b‐mediated chromatin demethylation
Kdm6b is crucial for skin cell differentiation.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research [Experimental study of repairing fat defect with human hair keratin material].
Human hair keratin can help repair fat tissue.
research 186 Dissecting the role of the common neurotrophin receptor CD271 in the skin: generation and characterization of a novel mouse model with keratinocyte-specific conditional deletion
Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
research Keratin 15 Promoter Targets Putative Epithelial Stem Cells in the Hair Follicle Bulge
The K15 promoter effectively targets stem cells in the hair follicle bulge.
research Skin-specific expression of a truncated E1a oncoprotein binding to p105-Rb leads to abnormal hair follicle maturation without increased epidermal proliferation.
The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
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 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 Woolly Antics between the Sheaths
Lipase H is important for hair follicle function and shaping hair fibers.
research AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis
AMPK activation may reduce melanoma risk in red-haired individuals.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research The structure of human trichohyalin. Potential multiple roles as a functional EF-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross-linking) protein
Trichohyalin helps in hair and skin cell structure and function by binding calcium and linking proteins.
research Genetically separable determinants of hair keratin gene expression
Mutations in the Whn gene affect hair keratin gene expression differently.
research Immunohistochemical Demonstration of Keratin 19 Expression in Isolated Human Hair Follicles
research The Mask Mutation Identifies TMPRSS6 as an Essential Suppressor of Hepcidin Gene Expression, Required for Normal Uptake of Dietary Iron.
TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
research A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research EBF1 expressed in the dermal papilla regulates hair type and length
EBF1 controls hair type and length.
research Hairless Up‐Regulates Tgf‐β2 Expression via Down‐Regulation of miR‐31 in the Skin of “Hairpoor” (HrHp) Mice
HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
research Keratin 17 Gene Expression during the Murine Hair Cycle
research Is the Loose Anagen Hair Syndrome a Keratin Disorder?
Loose anagen hair syndrome may be caused by keratin gene mutations.