research The Effect of Hairless Mutant Gene on The Thymus and Skin Under The C_(57)BL/6 Genetic Background
The hairless mutant gene causes early hair loss and affects skin and thymus development in mice.
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540-570 / 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 In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research Clinical Snippets
R-spondin2 may help treat hair loss, gene differences could explain baldness, a peptide's regulation is linked to psoriasis, B-defensin gene copies may affect a skin condition's risk and severity, and potential markers and targets for alopecia areata were identified.
research Cutaneous gain-of-function mutation of LRIG3 leads to alopecia by upregulation of ERBB, PI3K/AKT, NOTCH1 signaling pathways
Overexpression of LRIG3 in skin causes hair loss.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Suppression of hair follicle development inhibits induction of sonic hedgehog, patched, and patched-2 in hair germs in mice
Blocking hair follicle development stops key gene signals needed for hair growth in mice.
research Behavioural characterization of Vitamin D receptor knockout mice
Vitamin D receptor knockout mice have significant motor impairments but no cognitive deficits.
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 Regional Variation in Androgen Receptor Expression and Biomechanical Properties May Contribute to Cryptorchidism Susceptibility in the LE/orl Rat
Differences in androgen receptor expression and tissue properties may lead to higher cryptorchidism risk in certain rats.
research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
research Expression of the human Cathepsin L inhibitor hurpin in mice: skin alterations and increased carcinogenesis
Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.
research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research The FRZB gene regulates hair follicle development in rabbits via the Wnt/β-catenin signaling pathway
The FRZB gene slows hair growth in rabbits.
research Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in primary cicatricial alopecia
Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
research 7DHC and BM15766 treated mice (C57BL/6; n = 5) failed to regrow the hairs.
The treatments stopped hair regrowth in mice.
research The effects of sonic, desert and Indian hedgehog signalling in skin
Shh and Dhh affect skin development and can cause tumors, while Ihh does not.
research [The effect of 1, 25-dihydroxyvitamin D3 on cultured human hair follicle cells from a patients with vitamin D-dependent rickets type II with alopecia].
DDR-II hair follicle cells don't respond to 1, 25-dihydroxyvitamin D3, aiding diagnosis.
research Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report
Calcium supplements improved bone deformities but not skin papules or hair loss.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Author response: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
research Identification of novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa
Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves
Two Australian Poll Hereford calves had severe anaemia, abnormal red blood cells, and skin issues.
research CBL1‐CIPK26‐mediated phosphorylation enhances activity of the NADPH oxidase RBOHC, but is dispensable for root hair growth
A specific protein complex increases the activity of a plant enzyme, but this action is not required for plant root hair growth.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.