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.
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660-690 / 1000+ resultsresearch A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Targeted expression of activated erbB-2 to the epidermis of transgenic mice elicits striking developmental abnormalities in the epidermis and hair follicles.
Activated erbB-2 in mice skin causes severe skin and hair abnormalities.
research KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA
Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
research KLHL24-Mediated Hair Follicle Stem Cells Structural Disruption Causes Alopecia
A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Case of follicular mucinosis: Nestin‐expression in mucin‐producing cells
A 29-year-old man had a jaw plaque diagnosed as follicular mucinosis, linked to nestin-positive hair follicle stem cells.
research SOX11 and SOX4 drive the reactivation of an embryonic gene program during murine wound repair
SOX11 and SOX4 help skin cells act like embryonic cells to heal wounds in mice.
research Dermal β-Catenin Is Required for Hedgehog-Driven Hair Follicle Neogenesis.
β-Catenin is essential for new hair growth after skin injury.
research The Wave complex controls epidermal morphogenesis and proliferation by suppressing Wnt–Sox9 signaling
The Wave complex controls skin growth by suppressing certain signals.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research From structural resilience to cell specification — Intermediate filaments as regulators of cell fate
Intermediate filaments are crucial for cell differentiation and stem cell function.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research A Mouse Model for Conditional Expression of Activated β-Catenin in Epidermal Keratinocytes
Activated β-catenin affects hair growth and skin thickness, and changes are reversible.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Dermoscopy of annular elastolytic giant cell granuloma
Dermoscopy helped diagnose a rare skin disease which slightly improved with treatment.
research Convergent evolution has led to the loss of claw proteins in snakes and worm lizards
Snakes and worm lizards lost claw proteins due to similar evolutionary changes.
research 244 Defective maintenance of hair follicle stem cells through COL17A1 loss orchestrates the hair follicle aging program
Loss of COL17A1 causes hair follicle stem cells to age and leads to hair loss.
research Hair follicle aging is driven by transepidermal elimination of stem cells via COL17A1 proteolysis
Hair loss is caused by the breakdown of a protein called COL17A1 in hair follicle stem cells.
research Type XVII collagen suppresses interfollicular epidermal proliferation in neonatal and aged skin, and helps rejuvenate epidermis
Type XVII collagen helps control skin cell growth and rejuvenates skin.
research Monilethrix unveiled by initial androgenetic alopecia.
An 11-year-old girl with hair thinning was diagnosed with monilethrix and early androgenetic alopecia.
research Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (Hrrh-R) in the Hairless Gene (Hr)
A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
research Epithelial–mesenchymal transition in keloid tissues and TGF‐β1 –induced hair follicle outer root sheath keratinocytes
Keloid scars may form due to changes in skin cell characteristics and specific protein signaling.
research Expression of basement membrane components through morphological changes in the hair growth cycle
Fibronectin and other basement membrane components increase during hair growth and decrease during rest.
research The relevance of collagen XVII expression in epidermal differentiation and proliferation
Collagen XVII is crucial for skin cell growth and nail health.
research Review of the Latest Methods of Epidermolysis Bullosa and Other Chronic Wounds Treatment Including BIOOPA Dressing
New treatments for epidermolysis bullosa show promise in improving patients' lives, but a cure is still not available.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Dynamics of Hair Follicle Morphogenesis and Skin Homeostasis
Hair follicle development involves specific cells and genes, crucial for understanding severe skin diseases like harlequin ichthyosis.