research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
Search
for
Sort by
Research
630-660 / 1000+ results research Phosphatase Regulator NIPP1 Restrains Chemokine-Driven Skin Inflammation
NIPP1 is important for healthy skin and could help treat skin inflammation.
research Genetic studies on the functional relevance of the protein prenyltransferases in skin keratinocytes
FTase and GGTase-I are essential for skin keratinocyte health.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Impaired Keratinocyte Proliferative and Clonogenic Potential in Transgenic Mice Overexpressing 14-3-3σ in the Epidermis
Overexpressing 14-3-3σ in mice skin reduces cell growth and hair density.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Rare Cutaneous Side Effects of Imiquimod: A Review on Its Mechanisms, Diagnosis, and Management
Imiquimod can cause rare skin side effects, some irreversible, and long-term follow-up is important for users.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research 270 A novel small compound HPH-15 antagonizes TGF-β/Smad signaling and ameliorates experimental skin fibrosis
HPH-15, a new compound, effectively reduces skin fibrosis in experiments without causing harm.
research A direct link betweenPrss53, hair curvature, and skeletal dysplasia
The gene Prss53 affects hair shape and bone development in rabbits.
research 516 Dynein is involved in the movement, distribution, acidity, and transfer of melanosomes
Dynlt3 is important for melanosome transport and skin coloration.
research Two-ligand priming mechanism for potentiated phosphoinositide synthesis is an evolutionarily conserved feature of Sec14-like phosphatidylinositol and phosphatidylcholine exchange proteins
A protein in plants needs to bind two lipids to help with root hair growth, and this process is similar across different plant species.
research Constitutive Internalization of the Leucine-rich G Protein-coupled Receptor-5 (LGR5) to the Trans-Golgi Network
LGR5 mainly stays inside cells, moving to the trans-Golgi network, and this process is important for its role in cell signaling.
research Plerixafor Biases CXCR4 Signaling Through β-Arrestin to Promote Melanogenesis via β-Catenin–MITF Activation
Plerixafor may help treat pigmentation disorders by promoting skin repigmentation.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research The structure of human trichohyalin. Potential multiple roles as a functional EF-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross-linking) protein
Trichohyalin helps in hair and skin cell structure and function by binding calcium and linking proteins.
research Editors' Picks
Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
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 PolyQ length co-evolution in neural proteins
PolyQ repeats in neural proteins evolve together, affecting brain function and disease.
research A phosphoinositide-mediated switch of GET pathway receptor dimerization in Arabidopsis
Phospholipids help plant proteins move by regulating receptor interactions.
research Multiplex matrix network analysis of protein complexes in the human TCR signalosome
Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
research Syntaxin 9 is Enriched in Skin Hair Follicle Epithelium and Interacts With the Epidermal Growth Factor Receptor
Syntaxin 9 helps in transporting and signaling of the EGF receptor in skin and stomach cells.
research Epithelial Integrity Is Maintained by a Matriptase-Dependent Proteolytic Pathway
Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Thymic Peptides Differentially Modulate Human Hair Follicle Growth
Some thymic peptides can increase human hair growth, while others may inhibit it.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research Trichothiodystrophy
research 855 Targeted deletion of crif1 in mouse skin epidermis impairs skin homeostasis
Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.
research Phospholipase C 1 is required for skin stem cell lineage commitment
Phospholipase Cδ1 is crucial for normal skin and hair development.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.