research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
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30-60 / 1000+ resultsresearch Mammalian-specific ectodermal enhancers control the expression of Hoxc genes in developing nails and hair follicles
HoxC genes are crucial for normal hair and nail development.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Transcriptome and proteome characterization of surface ectoderm cells differentiated from human iPSCs
Blocking TGFβ-RI signaling enhances surface ectoderm differentiation from human stem cells.
research An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess
Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
research Label Retention Identifies a Multipotent Mesenchymal Stem Cell-Like Population in the Postnatal Thymus
The postnatal thymus has cells like mesenchymal stem cells that can become different cell types and help maintain thymus structure.
research In Silico Analysis of the Age-Dependent Evolution of the Transcriptome of Mouse Skin Stem Cells
The research found that the gene activity in mouse skin stem cells changes significantly as they age.
research Region-specific reversal of epidermal planar polarity in the rosette fancy mouse
Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Patent Reports
New patents include innovations in skin and hair care, disease treatment, plant stress tolerance, and protein purification.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research SP1 and KROX20 Regulate the Proliferation of Dermal Papilla Cells and Target the CUX1 Gene
SP1 promotes and KROX20 inhibits hair cell growth by affecting the CUX1 gene.
research 1335 Maintenance of epidermal progenitor function through the mRNA degradation and translation pathways
The protein DDX6 helps keep skin cells renewing properly by controlling the production of certain other proteins and breaking down those that cause cells to mature too quickly.
research Decision letter: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 helps retinal cells respond to signals for eye development.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Regulation of masculinization: androgen signalling for external genitalia development
Male genital development is driven by androgen signaling and understanding it could help address congenital anomalies.
research Investigating the Safety and Efficacy of Platelet-Rich Plasma (PRP) Treatment for Female Androgenetic Alopecia: Review of the Literature
PRP treatment may promote hair growth and improve hair density in women with AGA, but more research is needed.
research Association between VDR Gene Polymorphisms and Melanoma Susceptibility in a Colombian Population
Certain VDR gene changes can affect melanoma risk.
research mTOR signaling in hair follicle and hair diseases: recent progress
The mTOR signaling pathway is crucial for hair health and targeting it may lead to new hair loss treatments.
research 1329 CENPV is a novel CYLD-interacting molecule regulating ciliary acetylated tubulin
CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Author response: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
research Mutant Cx43 in Skin Differentiation and Disease
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
research A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
research Does Vitamin D play a role on Msx1 homeoprotein expression involving an endogenous antisense mRNA?*1
Vitamin D affects Msx1 protein expression and may influence mineralized tissue health.
research SnapshotDx Quiz: February 2018
Blocking certain pathways with kinase inhibitors may help treat cutaneous lupus erythematosus.
research `Cyclic alopecia' inMsx2mutants: defects in hair cycling and hair shaft differentiation
Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
research Hoxc13 mutant mice lack external hair
Hoxc13 gene is essential for hair, nail, and papilla development.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.