research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
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research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Heparanase 1: a key participant of inner root sheath differentiation program and hair follicle homeostasis
Heparanase is essential for hair follicle health and inner root sheath differentiation.
research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research THBS4 promotes hair regeneration by inducing dermal mechanical niche adaptation
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Hepatitis C ‐related mixed type vitiligo in a patient with I vemark syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Pathogenic CD8+ T cells target K71+ Henle’s layer by forming cytolytic immune synapses in Alopecia Areata
research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Sept4/ ARTS Regulates Stem Cell Apoptosis and Skin Regeneration
Mice without the Sept4/ARTS gene heal wounds better due to more stem cells that don't die easily.
research Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain
The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Expression, characterization, and structural analysis of human liver delta4-3-ketosteroid 5beta-reductase (AKR1D1) and its disease-related mutant P133R
The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
research Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis
A new rat strain with a specific gene mutation causes hair loss and kidney issues.
research [An immunohistochemical study on the normal human skin using an anti-hair keratin monoclonal antibody (HKN-2)].
research PBX1-SIRT1 positive feedback loop attenuates ROS-mediated HF- MSC senescence and apoptosis
PBX1 reduces aging and cell death in stem cells by boosting SIRT1 and lowering PARP1.
research SIRT 7 activates quiescent hair follicle stem cells to ensure hair growth in mice
SIRT7 protein is crucial for starting hair growth in mice.
research Is idiopathic hirsutism idiopathic?
Idiopathic hirsutism may be linked to increased enzyme activity.
research 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 tightly curled hair.
research Expression patterns of keratin intermediate filament and keratin associated protein genes in wool follicles
Gene expression in wool follicles changes with growth cycles, offering insights into wool and human hair growth.
research Cylindroma as Tumor of Hair Follicle Origin
Cylindromas likely originate from hair follicle stem cells, not sweat glands.
research Development of Hair Fibres
research Disturbed Epidermal Structure in Mice with Temporally Controlled Fatp4 Deficiency
Fatp4 is crucial for healthy skin development and function.
research Keratin Expression Provides Novel Insight into the Morphogenesis and Function of the Companion Layer in Hair Follicles
Keratin patterns in hair follicles help understand hair growth and potential hair and nail disorders.
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 Keratinization of outer root sheath cells is prevented by contact with inner root sheath of rat hair follicles
research Whole-Genome Resequencing Reveals Selection Signal Related to Sheep Wool Fineness
Genes linked to wool fineness in sheep have been identified.
research Lymphatic Vasculature and Hair Follicle Regeneration
Lymphatic vessels help hair follicles regenerate by interacting with stem cells.