research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
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780-810 / 1000+ resultsresearch Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Differential distribution of the epigenetic marker 5‐hydroxymethylcytosine occurs in hair follicle stem cells during bulge activation
The marker 5-hmC changes in hair follicle stem cells when they start to grow.
research 1345 A single-cell RNA map of perinatal developing mouse skin
The research mapped gene activity in developing mouse skin and found key markers for skin cell types and changes from fetal to early postnatal stages.
research QuantAnts machines discover biomarkers for RAS signaling activation and design sgRNAs for CRISPR to target complex CD9, CD34, and CD74.
The QuantAnts machines can find cancer markers and create CRISPR targets for them.
research Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector
MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research An Integrated Analysis of Cashmere Fineness lncRNAs in Cashmere Goats
lncRNA XLOC_008679 and gene KRT35 affect cashmere fineness in goats.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Basonuclin as a cell marker in the formation and cycling of the murine hair follicle
Basonuclin is crucial for hair follicle development and cycling in mice.
research Identification of the KAP27-1 gene in sheep and its effect on wool traits
The KRTAP27-1 gene variations in sheep may affect wool length and weight.
research XEDAR activates the non-canonical NF-κB pathway
XEDAR triggers a specific signaling pathway in cells.
research 516 Functional annotation of genes underlying hair disorders
The study identified key genes and pathways linked to hair disorders, aiding precision medicine.
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 Study on the Activity of Sheep High-sulfur Keratin Promoter
The B2C promoter works in sheep cells but not in mouse embryos.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Regulation of a hair follicle keratin intermediate filament gene promoter
The LEF-1 binding site enhances gene expression in hair follicles, with other proteins aiding specific regulation.
research Venus trap in the mouse embryo reveals distinct molecular dynamics underlying specification of first embryonic lineages
Tmem50b and 2610305D13Rik genes play key roles in early mouse embryo development.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Distinct transcriptomic landscapes of cutaneous basal cell carcinomas and squamous cell carcinomas
Human basal cell carcinomas and squamous cell carcinomas have unique gene expression patterns not fully mirrored in mouse models.
research Col4a2-eGFPmouse model reveals the molecular and functional dynamics of basement membrane remodelling in hair follicle morphogenesis
Scientists made a mouse that shows how a specific protein in the skin changes and affects hair growth and shape.
research Expression patterns of TRα and CRABPII genes in Chinese cashmere goat skin during prenatal development
TRα and CRABPII genes change their activity levels during goat fetal skin development.
research The cDNA-deduced amino acid sequence for trichohyalin, a differentiation marker in the hair follicle, contains a 23 amino acid repeat.
Trichohyalin, a hair follicle protein, has a part with repeating patterns of 23 amino acids.
research Structure of human type II 5 alpha-reductase gene
The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
research Organization and expression of hair follicle genes
research 1272 p21Waf1/Cip1 is differentially expressed in epidermal versus follicular melanocytes and melanoma cells and is phenotypically regulated by UVB-mediated apoptosis
The protein p21 is more abundant in normal skin cells than in melanoma cells and may help protect against melanoma, with UVB light affecting its levels.
research A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu
A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.