research Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.
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780-810 / 1000+ results research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research Hox in the Niche Controls Hairy-geneity
Hox genes control hair growth patterns in mammals by regulating stem cell activity in the skin.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research miR-195-5p Regulates Hair Follicle Inductivity of Dermal Papilla Cells by Suppressing Wnt/β-Catenin Activation
miR-195-5p reduces hair growth ability in cells by blocking a specific growth signal.
research Depletion of Gsdma1/2/3 alleviates PMA-induced epidermal hyperplasia by inhibiting the EGFR–Stat3/Akt pathway
Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
research Defective control of growth rate and cell diameter in tip-growing root hairs of therhd4mutant ofArabidopsis thaliana
The RHD4 gene is crucial for consistent root hair growth in Arabidopsis thaliana.
research Whn and mHa3 are components of the genetic hierarchy controlling hair follicle differentiation
Whn is crucial for hair growth in certain areas by controlling a specific gene.
research ‘Atrichosis’, a new hairless gene with cyst formation in rats
A new gene causes hairlessness and skin cysts in rats.
research The G-Protein Couple Receptor Kinase 2 (GRK2) Orchestrates Hair Follicle Homeostasis
GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
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 Do Hair Bulb Melanocytes Undergo Apotosis During Hair Follicle Regression (Catagen)?
Hair follicle melanocytes die during hair regression.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
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 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 Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research Woolly Antics between the Sheaths
Lipase H is important for hair follicle function and shaping hair fibers.
research Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis
Hairless protein and putrescine regulate each other, affecting hair growth and skin balance.
research Differential metabolic adaptations define responses of winner and loser oncogenic mutant stem cells in skin epidermisin vivo
Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.
research Hox demarcates regional regeneration of adult hair follicle stem cells
Hox genes control hair follicle stem cell regeneration in different body regions.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research eLife assessment: Touch receptor end-organ innervation and function require sensory neuron expression of the transcription factor Meis2
Meis2 is essential for touch sensation and proper nerve connection to touch receptors in certain skin areas of mice.
research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Mechanism of JmjC-containing protein Hairless in the regulation of vitamin D receptor function
Hairless protein helps control hair growth by regulating vitamin D receptor activity.
research Increased expression of keratin 16 causes anomalies in cytoarchitecture and keratinization in transgenic mouse skin.
Too much keratin 16 in mice skin causes abnormal skin thickening and structure.
research Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations
Topical minoxidil helped an 8-year-old boy with a genetic hair disorder grow hair.