research MCPIP1 controls effects of myeloid cells on skin carcinogenesis and hair growth
MCPIP1 in myeloid cells is important for skin cancer development and healthy hair growth.
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540-570 / 1000+ results research Conditional Gene Expression in the Epidermis of Transgenic Mice Using the Tetracycline-Regulated Transactivators tTA and rTA Linked to the Keratin 5 Promoter
The system allows precise control of gene expression in mouse skin, useful for studying skin biology.
research Generation of Genetically Modified Rats Using CRISPR/Cas9 Genome-Editing System to Reveal Novel Vitamin D Actions
Genetically modified rats help reveal how vitamin D affects bone and skin health.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research FOXE1, A New Transcriptional Target of GLI2 Is Expressed in Human Epidermis and Basal Cell Carcinoma
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
research Grp1-associated scaffold protein regulates skin homeostasis after ultraviolet irradiation
Grasp protein helps maintain skin health after UVB exposure.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research 875 A novel animal model of Desmoglein 1 (Dsg1) deficiency reveals an essential role for Dsg1 in epidermal barrier formation
Dsg1 is essential for maintaining a healthy skin barrier in mice.
research Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne
Genetic variations affecting skin structure play a key role in severe acne.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
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 Gene Expression Analysis Reveals Novel Functions of Vitamin D and Glucocorticoids
Vitamin D and glucocorticoids affect bone growth, metabolism, and immune response.
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 CRISPR/Cas9‐mediated loss of FGF5 function increases wool staple length in sheep
Disabling the FGF5 gene in sheep leads to longer wool.
research Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
Lack of a key enzyme causes severe skin issues and death in mice.
research Characterization of hairless (Hr) and FGF5genes provides insights into the molecular basis of hair loss in cetaceans
Cetaceans lost hair due to changes in the Hr and FGF5 genes.
research Cashmere growth control in Liaoning cashmere goat by ovarian carcinoma immunoreactive antigen-like protein 2 and decorin genes
OCIAD2 and DCN genes affect hair growth in goats by having opposite effects on a growth signaling pathway and inhibiting each other.
research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
research Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
A gene variant causes a skin and hair disorder by disrupting protein balance.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes
The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
research GRowing an Epidermal Tumor
The glucocorticoid receptor helps protect skin from tumors and other issues.
research O19 CYLD cutaneous syndrome tumours demonstrate increased NF-κB signalling and diminished collagen organisation.
Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research <i>DSG4</i> Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case
Genetic testing can diagnose hair loss linked to DSG4 gene variants.
research Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
Deleting the CDSN gene causes severe skin and hair problems, leading to death.