research Hague (Hag): A New Mouse Hair Mutation With an Unstable Semidominant Allele
This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
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30-60 / 1000+ resultsresearch Genomic Characterization of the Human Type I Cuticular Hair Keratin hHa2 and Identification of an Adjacent Novel Type I Hair Keratin Gene hHa5
research Informàtica i Dret penal: Els delictes relatius a la informàtica
This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
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 Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.
research A cDNA encoding the human type I hair keratin hHa1
hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».
This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
research Mycobacterial 65,000 MW heat-shock protein shares a carboxy-terminal epitope with human epidermal cytokeratin 1/2.
This study demonstrated immunological cross-reactivity between mycobacterial heat-shock protein 65 and human epidermal cytokeratin 1/2, suggesting that this cross-reactive epitope might play a role in skin diseases.
research 1326 Hes1 regulates anagen initiation and hair follicle regeneration through modulation of hedgehog signaling
This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.
research 532 Unexpected expression of hemoglobin α as an endogenous antioxidant in epidermal keratinocytes
This study found that hemoglobin α is upregulated in epidermal keratinocytes after UV exposure and may function as an antioxidant, particularly for hair follicle stem cells.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.
research Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle
This study identified molecular elements controlling the expression and stabilization of THH protein in hair follicle cells, revealing key mechanisms that support hair shaft development in mice.
research Keratinocytes of the Upper Epidermis and Isthmus of Hair Follicles Express Hemoglobin mRNA and Protein
This study suggests that hemoglobin α expression in the epidermis is induced by oxidative stress and may function as an antioxidant, contributing to skin barrier function.
research Rab5c-mediated endocytic trafficking regulates hematopoietic stem and progenitor cell development via Notch and AKT signaling
This study found that Rab5c is crucial for proper HSPC development in zebrafish embryos by regulating Notch and AKT signaling through endocytic trafficking, with both deficiency and overactivation leading to production defects.
research BMP4 and nuclear laminC orchestrate a expression of AHF/Trichohyalin molecule, a key modulator of keratin intermediate filaments in the hair follicle
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Synthesis of 11α-hydroxyprogesterone hartens
In this study, the synthesis of C-4 and C-6 bridged haptens of 11 alpha-hydroxyprogesterone revealed an unexpected formation of a C-4 substituted product using a 6-bromo derivative, contrary to prior reports.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
research Hair Follicle Pluripotent Stem (hfPS) Cells
research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
research The Mammalian Hairless Protein as a DNA Binding Phosphoprotein
This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
research Cell Surface B2m-Free Human Leukocyte Antigen (HLA) Monomers and Dimers: Are They Neo-HLA Class and Proto-HLA?
This study reports that some human cell surface HLA-I molecules (including HLA-B27) can appear without their usual peptide component, potentially altering immune interactions, influencing arthritis development in specific mice models, and exhibiting upregulation in certain cancer cells.
research Modulation of Vitamin D Receptor Activity by the Corepressor Hairless: Differential Effects of Hairless Isoforms
This study demonstrated that both HR isoforms are expressed in keratinocytes, but HRDelta1072-1126 lacks corepressor activity and may act as a coactivator by inhibiting HDAC recruitment to the VDR transcriptional complex.
research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
research The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor
This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.
research Gender-specific alteration of steroid metabolism and its impact on viral replication in a mouse model of hepatitis B virus infection
This study found that HBV infection altered steroid metabolism in male mice, significantly increasing levels of dehydroepiandrosterone and reducing dihydrotestosterone, which may suppress viral replication by affecting HBV promoter activity.