research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
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810-840 / 1000+ results research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research Differential expression of type I IRS keratin genes in three breeds of sheep
Sheep breeds show different keratin gene expression in the groin, linked to hair follicle density.
research Restoration of Spermatogenesis and Male Fertility Using an Androgen Receptor Transgene
Scientists restored fertility in male mice lacking a key fertility gene by using a modified gene.
research Abstract 94: Hyaluronan Synthase 2 Knock Down in Epidermis Alter Wound Healing and Hair Follicle Development
Hyaluronan from Has2 is important for proper wound healing and hair follicle development.
research Signalling couples hair follicle stem cell quiescence with reduced histone H3 K4/K9/K27me3 for proper tissue homeostasis
Certain signals are important for reducing specific chemical markers on hair follicle stem cells during rest periods, which is necessary for healthy hair growth.
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 LGR5 is a Conserved Marker of Hair Follicle Stem Cells Across Species and is Present Early and Throughout Follicle Morphogenesis
LGR5 is a marker found in hair follicle stem cells in various species and is important for hair growth and skin repair.
research 1422 Uncoupling desmosomal cadherin adhesion activates quiescent hair follicle stem cells and orchestrates self-organized regeneration through outside-in signaling
Disrupting a specific protein's function in hair follicle stem cells triggers their activation and a self-healing process.
research Hypoxia inducible factor-1α promotes trichogenic gene expression in human dermal papilla cells
HIF-1α is important for hair growth and could be a treatment target for hair loss.
research Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease
Histone demethylases can change gene expression and may be linked to diseases like cancer.
research Sequence of a Cashmere goat type I hair keratin gene and its expression in skin
The Cashmere goat hair keratin gene is crucial for hair structure.
research The Stem Cell Quiescence and Niche Signaling is Disturbed in the Hair Follicle of the Hairpoor Mouse, an MUHH Model Mouse.
Hair follicle stem cells in hairpoor mice are disrupted, causing hair loss.
research Gene expression patterns during palatal shelf fusion
Several genes, including Hox-7A, Stra6, and Lim-1, are involved in normal palate formation.
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.
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 Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research Functional Enhancers As Master Regulators of Tissue-Specific Gene Regulation and Cancer Development.
Enhancers and super-enhancers are key in controlling specific gene activity and can play a role in cancer development.
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 Genome-wide gene expression dataset used to identify potential therapeutic targets in androgenetic alopecia
Five molecular elements identified as potential future targets for hair loss therapy.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research FOXN 1 Duplication and Congenital Hypertrichosis
FOXN1 duplication can cause excessive hair growth.
research Hdac1 and Hdac2 regulate the quiescent state and survival of hair-follicle mesenchymal niche
Hdac1 and Hdac2 help maintain and protect the cells that control hair growth.
research Investigation of hub genes and immune infiltration in androgenetic alopecia using bioinformatics analysis
Immune activities and specific genes are important in male pattern baldness.
research Unlocking the genetic secrets of Dorper sheep: insights into wool shedding and hair follicle development
Dorper sheep's wool shedding is linked to specific genes and pathways, which may help understand human hair growth.
research Ptch2 is a Potential Regulator of Mesenchymal Stem Cells
Ptch2 plays a key role in controlling stem cell function and the ability to regenerate after birth.
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 Probing Keratinocyte and Differentiation Specificity of the Human K5 Promoter in Vitro and in Transgenic Mice
The human K5 promoter controls specific gene expression in skin cells, with key regulatory elements near the TATA box.