research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
Search
for
Sort by
Research
300-330 / 1000+ results
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research LGR5 is a conserved marker of hair follicle stem cells in multiple species and is present early and throughout follicle morphogenesis
LGR5 is a common marker of hair follicle stem cells in different animals and is important for hair growth and regeneration.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance
The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
research Synthesis of porcine pCLCA2 protein during late differentiation of keratinocytes of epidermis and hair follicle inner root sheath
pCLCA2 protein may help maintain skin structure and function.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research Non-Steroidal Modulation of the 5-Alpha Reductase Axis: A Dual Therapeutic Strategy for Prostatic Chemoprevention and Androgenetic Alopecia
LX-38 is a safer drug option for treating prostate issues and hair loss without hormonal side effects.
research Non-Steroidal Modulation of the 5-Alpha Reductase Axis: A Dual Therapeutic Strategy for Prostatic Chemoprevention and Androgenetic Alopecia
LX-38 is a safer drug option for hair loss and prostate issues without hormonal side effects.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Evidence That the Satin Hair Mutant Gene Foxq1 Is among Multiple and Functionally Diverse Regulatory Targets for Hoxc13 during Hair Follicle Differentiation
The gene Foxq1, controlled by Hoxc13, is crucial for hair follicle differentiation.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research Laminin 332 Is Indispensable for Homeostatic Epidermal Differentiation Programs
Laminin 332 is essential for normal skin cell behavior and structure.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research Structure and site of expression of a murine type II hair keratin
A specific type II hair keratin was identified and found in hair cortex and tongue cells.
research Lymphotoxin-β regulates periderm differentiation during embryonic skin development
Lymphotoxin-β is crucial for proper skin development in embryos.
research Pax9 is required for filiform papilla development and suppresses skin-specific differentiation of the mammalian tongue epithelium
Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
research Woolly Antics between the Sheaths
Lipase H is important for hair follicle function and shaping hair fibers.
research Modulation of sonic hedgehog, patched and patched-2 expression by epidermal growth factor signaling in mouse hair follicle formation
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Acitretin: A good treatment option for hypertrophic lichen planus
Acitretin effectively treats severe hypertrophic lichen planus.
research Hoxc13 Expression Pattern in Cashmere Goat Skin During Hair Follicle Development
Hoxc13 gene expression and skin thickness change similarly during cashmere goat hair follicle development.
research The polygenic architecture of hidradenitis suppurativa reveals signaling mechanisms that implicate epithelial remodeling
Blocking CXCR4 may help treat hidradenitis suppurativa.
research MEX3A regulates Lgr5 + stem cell maintenance in the developing intestinal epithelium
MEX3A is crucial for maintaining intestinal stem cells in mice.
research Molecular mechanism of ligand recognition and activation of lysophosphatidic acid receptor LPAR6
LPAR6 has a unique way of binding and activating, which helps in designing treatments for hair loss and cancer.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
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 in mice by disrupting hair follicle development.