research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
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research A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research LEKTI: Netherton Syndrome and Atopic Dermatitis
LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
research Vitamin D activates type A natriuretic peptide receptor gene transcription in inner medullary collecting duct cells
Vitamin D boosts a specific gene activity in kidney cells that could improve heart and kidney function.
research Epigen Transgenic Mice Develop Enlarged Sebaceous Glands
Overexpressing the epigen gene in mice leads to enlarged sebaceous glands and greasy fur.
research Emerging roles of Sox6 in the renal and cardiovascular system
Sox6 is important in heart and kidney health, affecting diseases like diabetes, heart disease, and high blood pressure.
research Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development
The PP2A-B55α protein is essential for brain and skin development in embryos.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Hairless: A nuclear receptor corepressor essential for skin function
The Hairless gene is crucial for healthy skin and hair growth.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research Nestin as a marker of unipotent epithelial progenitor cells differentiate into outer root sheath keratinocytes in embryonic and adult hair follicles
Nestin-expressing cells turn into a specific type of skin cell in hair follicles during development and in adults.
research 458 UVB-induced facultative pigmentation is associated with distinct DNA methylation changes
Tanning ability is linked to specific DNA changes in skin genes.
research Loss of TET2 Tips the Scales Toward Tumorigenesis
Loss of TET2 increases the risk of skin and oral cancer.
research 502 The stress-responsive secretory protein adrenomedullin 2 potently induces cell cycle arrest and apoptosis in human hair follicles
Adrenomedullin 2 stops cell growth and causes cell death in human hair follicles.
research Using Precise Objectives to Enhance Student Achievement in Health Education.
Precise objectives can improve student achievement in health education.
research Collagen triple helix repeat containing-1 promotes functional recovery of sweat glands by inducing adjacent microvascular network reconstruction in vivo
CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
research Few Simple Sequence Repeats in Human Hair
Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
research Mesenchymal cell specific deletion of Tsc2 regulates hair follicle development and patterning
TSC2 is crucial for proper hair follicle development and patterning.
research Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research FGFR2 is associated with hair thickness in Asian populations
A gene variation is linked to hair thickness in Asians.
research Construction and Verification of Recombinant Follicle-specific Expression Vector
The vector successfully directed specific gene expression in hair follicles.
research Aguas residuales urbanas
PRC2 is not essential for hair follicle stem cell maintenance or hair growth.
research LHX2 is a direct NF-κB target gene that promotes primary hair follicle placode down-growth
LHX2 is essential for hair follicle development, controlled by NF-κB and TGFβ2 signaling.
research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research 603 Degradation of aberrant NETs by DNases is a promising therapeutic strategy for SJS/TEN
Using DNase enzymes to break down harmful NETs could be a new treatment for Stevens-Johnson syndrome and toxic epidermal necrolysis.
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.
research Ovine KRTAP36-2: A New Keratin-Associated Protein Gene Related to Variation in Wool Yield
The KRTAP36-2 gene in sheep affects wool yield.