research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
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180-210 / 1000+ resultsresearch Hair Follicle Pluripotent Stem (hfPS) Cells
research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita
research Type II Keratins Are Phosphorylated on a Unique Motif during Stress and Mitosis in Tissues and Cultured Cells
Type II keratins are uniquely phosphorylated during stress and mitosis, affecting their structure and function.
research Phosphofructokinase (Pfk) Regulation of Glycolysis in Skin
research The atypical ‘hippocampal’ glutamate receptor coupled to phospholipase D that controls stretch‐sensitivity in primary mechanosensory nerve endings is homomeric purely metabotropic GluK2
A special receptor in sensory nerve endings helps control how they respond to stretching.
research Isolating subpopulations of human epidermal basal cells based on polyclonal serum against trypsin-resistant CSPG4 epitopes
The research found a way to identify and study skin cells with stem cell traits, revealing they behave differently in culture and questioning current stemness assessment methods.
research Kisspeptin and LH pulsatile temporal coupling in PCOS patients
Women with regular menstrual cycles and PCOS have linked kisspeptin and LH hormone patterns, unlike those with irregular cycles.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
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 Electroosmotic pore transport in human skin.
research Lidocaine-Loaded Solid Lipid Microparticles (SLMPs) Produced from Gas-Saturated Solutions for Wound Applications
Lidocaine-loaded microparticles effectively relieve pain and fight bacteria in wounds.
research Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature
Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research sc-eQTL unveil immunogenetic architecture of polycystic ovary syndrome
PCOS involves immune and genetic factors, with key roles for T cells and specific genes.
research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Cutaneous Ultrastructural Features of the Flaky Skin (fsn) Mouse Mutation
The flaky skin mouse mutation is a natural model for studying human psoriasis.
research Cystatin M/E Is a High Affinity Inhibitor of Cathepsin V and Cathepsin L by a Reactive Site That Is Distinct from the Legumain-binding Site
Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research Celsr1 and Celsr2 exhibit distinct adhesive interactions and contributions to planar cell polarity
Celsr1 is crucial for skin cell alignment, while Celsr2 has little effect on this process.
research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
research Mice humanised for the EGF receptor display hypomorphic phenotypes in skin, bone and heart
Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
research Generating Skin‐Derived Precursor‐Like Cells From Human‐Induced Pluripotent Stem Cell‐Derived Skin Organoids
SKO-derived SKP-like cells may help with hair regeneration and skin restoration.
research Natural Killer Group 2 Type D (NKG2D) Gene Polymorphism in Systemic Lupus Erythematosus-Suez Canal Region - Egypt
NKG2D gene polymorphism doesn't affect SLE risk but may influence symptoms like rash and hair loss.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Epidermolysis Bullosa in Calves in the United Kingdom
Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
research A Study of the Expression of Small Conductance Calcium-Activated Potassium Channels (SK1-3) in Sensory Endings of Muscle Spindles and Lanceolate Endings of Hair Follicles in the Rat
SK2 channels help control sensory signals in rat muscle spindles and hair follicles.
research Pseudoepitheliomatous Hyperplasia in Lichen Sclerosus of the Vulva
PEH in vulvar LS is common and needs careful diagnosis to avoid confusion with cancer.
research Efficient Gene Editing for Heart Disease via ELIP-Based CRISPR Delivery System
ELIP-based CRISPR delivery improves heart disease gene editing but needs more testing.