research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
Search
for
Sort by
Research
30 / 1000+ resultsresearch Delayed epidermal permeability barrier formation and hair follicle aberrations in Inv-Cldn6 mice
Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Claudin Expression Modulations Reflect an Injury Response in the Murine Epidermis
Claudin expression changes help the skin respond to injury.
research 464 Spatial transcriptomics links gene expression profiles to functional and structural traits of darkly pigmented skin
Dark skin has stronger barriers and structure due to specific gene activity.
research Tight junctions form a barrier in porcine hair follicles
Tight junctions create a barrier in pig hair follicles that controls what can enter the skin.
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research Double mutation of claudin‐1 and claudin‐3 causes alopecia in infant mice
Mutations in claudin-1 and claudin-3 cause hair loss in baby mice.
research The transcriptional repressor CDP (Cutl1) is essential for epithelial cell differentiation of the lung and the hair follicle
CDP is crucial for lung and hair follicle cell development.
research CLED: A Calcium-Linked Protein Associated with Early Epithelial Differentiation
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Co-factors of LIM domains (Clims/Ldb/Nli) regulate corneal homeostasis and maintenance of hair follicle stem cells
Clim proteins are essential for maintaining healthy corneas and hair follicles.
research FLCN regulates transferrin receptor 1 transport and iron homeostasis
FLCN helps control iron levels in cells.
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 Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research CLK1 and its Effects on Skin Stem Cell Differentiation
CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Alopecia in a Viable Phospholipase C Delta 1 and Phospholipase C Delta 3 Double Mutant
Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
research TCL1 transgenic mouse model as a tool for the study of therapeutic targets and microenvironment in human B-cell chronic lymphocytic leukemia
The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
research Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.
research The circular RNA circNlgnmediates doxorubicin-inducedcardiac remodeling and fibrosis
A specific RNA, circNlgn, contributes to heart damage and scarring caused by the cancer drug doxorubicin.
research Inhibition of CISD1 attenuates cisplatin-induced hearing loss in mice via the PI3K and MAPK pathways
Blocking CISD1 reduces hearing loss from cisplatin in mice.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
research Sustained Human Hair Follicle Growth Ex Vivo in a Glycosaminoglycan Hydrogel Matrix
Human hair grows better in a special gel that mimics skin.
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 Molecular Dissection of Mesenchymal–Epithelial Interactions in the Hair Follicle
Understanding gene expression in hair follicles can reveal insights into hair growth and disorders.
research The role of tight junctions in skin barrier function and dermal absorption
Tight junctions are key for skin protection and controlling what gets absorbed or passes through the skin.
research Dental cell type atlas reveals stem and differentiated cell types in mouse and human teeth
The research identified various cell types in mouse and human teeth, which could help in developing dental regenerative treatments.
research Self-organization process in newborn skin organoid formation inspires strategy to restore hair regeneration of adult cells
Newborn mouse skin cells can grow hair and this process can be recreated in adult cells to potentially help with hair loss.