research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
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research Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems
Genetic screening can help diagnose and manage infertility in Slovenian couples.
research Novel <b><i>ABCD1</i></b> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Compartmentalized Epidermal Activation of β-Catenin Differentially Affects Lineage Reprogramming and Underlies Tumor Heterogeneity
Activating β-catenin in different skin stem cells causes various types of hair growth and skin tumors.
research Cutaneous gene therapy
Cutaneous gene therapy could become a viable treatment for skin and hair disorders with improved vector development and gene expression control.
research FLCN regulates transferrin receptor 1 transport and iron homeostasis
FLCN helps control iron levels in cells.
research Deciphering gene regulatory programs in mouse embryonic skin through single-cell multiomics analysis
HT-scCAT-seq helps understand gene regulation in embryonic skin development.
research 0749 Serine and arginine-rich splicing factor 3 regulates epidermal differentiation in cutaneous squamous cell carcinoma
research Expression and roles of steroidogenic acute regulatory (StAR) protein in ‘non-classical’, extra-adrenal and extra-gonadal cells and tissues
The protein StAR is found in 17 different organs and can affect hair loss and brain functions, but its full role is not yet fully understood.
research NFIC promotes the vitality and osteogenic differentiation of rat dental follicle cells
NFIC helps rat dental cells grow and turn into bone-like cells.
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 Hair keratin KRT81 is expressed in normal and breast cancer cells and contributes to their invasiveness
The hair keratin gene KRT81 is found in both normal and breast cancer cells and helps them invade surrounding tissues.
research Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening
Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research Nuclear Topology, Epigenetics, and Keratinocyte Differentiation
Nuclear shape and chromatin changes affect gene expression in skin cell differentiation.
research Tumor Necrosis Factor-Alpha and Polycystic Ovarian Syndrome: A Clinical, Biochemical, and Molecular Genetic Study
High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.
research Protein kinase Cepsilon is linked to 12-O-tetradecanoylphorbol-13-acetate-induced tumor necrosis factor-alpha ectodomain shedding and the development of metastatic squamous cell carcinoma in protein kinase Cepsilon transgenic mice.
Overexpression of PKCepsilon leads to increased TNFalpha, promoting metastatic squamous cell carcinoma in mice.
research Genome-Wide Association Study for Udder Conformation Traits in Chinese Holstein Cattle
Certain genes affect udder shape in Holstein cows, important for health and milk production.
research NEDD4 and NEDD4L regulate Wnt signalling and intestinal stem cell priming by degrading LGR5 receptor
NEDD4 and NEDD4L help control intestinal stem cells and prevent tumors by breaking down the LGR5 receptor.
research SPECIFIC ECTODERMAL ENHANCERS CONTROL THE EXPRESSION OFHoxcGENES IN DEVELOPING MAMMALIAN INTEGUMENTS
The HoxC gene cluster and its enhancers are essential for developing hair and nails in mammals.
research Transcriptome sequencing reveals the expression profiles of lncRNAs and mRNAs in goat skin tissues with different types of wool coats
The study identified key genes and pathways that influence goat wool quality and growth.
research Splitting Hairs
β-catenin affects hair growth and can lead to tumors, needing more research for better understanding.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research 1301 STIM1, but not STIM2, is the calcium sensor critical for sweat secretion
STIM1 is essential for sweat secretion.
research KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype
Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
research TMPRSS2: A Key Host Factor in SARS-CoV-2 Infection and Potential Therapeutic Target
TMPRSS2 is crucial for COVID-19 infection and is a potential target for treatment.
research In Silico Promoter Motif Analysis of Human Fertility-Related Genes
The study found potential new DNA patterns in fertility genes, but further testing is needed.
research Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis
High TSPEAR levels in colorectal cancer predict worse outcomes.
research Abstract 2469: Increased cathepsin B expression in cultured tuberous sclerosis skin tumor cells and patient tumor tissues
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.