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.
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630-660 / 1000+ results research Pili Trianguli et Canaliculi Is a Defect of Inner Root Sheath Keratinization
The hair defect is due to abnormal inner root sheath keratinization.
research Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts.
Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
research Expression of CD1d in human scalp skin and hair follicles: hair cycle related alterations
CD1d expression in scalp skin and hair follicles changes with the hair cycle and may help protect against microbes.
research 2‐Deoxy‐d ‐glucose enhances tonic inhibition through the neurosteroid‐mediated activation of extrasynaptic GABA A receptors
2-DG reduces seizures by enhancing brain inhibition through specific receptor activation.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Glypican-1, -4 and 6 Participate in the Hair Follicle Stem Cell Differentiation via Specific Interactions with BMP2R, Fz7 and Patched 1
research In vivo imaging of mammary epithelial cell dynamics in response to lineage-biased Wnt/β-catenin activation
Activating β-catenin in mammary cells leads to changes that cause early-stage abnormal growths similar to skin structures.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Extracellular matrix sensing by FERONIA and Leucine‐Rich Repeat Extensins controls vacuolar expansion during cellular elongation in Arabidopsis thaliana
FERONIA and LRX proteins help control cell growth in plants by regulating vacuole expansion.
research Upregulation of the truncated basic hair keratin 1(hHb1‐ΔN) in carcinoma cells by Epstein‐Barr virus (EBV)
EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
research Reciprocal role of vitamin D receptor on β-catenin regulated keratinocyte proliferation and differentiation
Vitamin D receptor helps control skin cell growth and hair development.
research New fluorogenic probes for neutral and alkaline ceramidases
New probes were created to effectively measure specific enzymes involved in fat metabolism, which could help develop new drugs.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Faculty Opinions recommendation of Stem cell niche exit in C. elegans via orientation and segregation of daughter cells by a cryptic cell outside the niche.
Stem cell niche exit in C. elegans is influenced by Sh1 cell membrane protrusions.
research Adaptive Balance in Posterior Cerebellum
The posterior cerebellum helps maintain balance by adapting to sensory inputs and self-motion.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research The Parathyroid Hormone Second Receptor PTH2R and its Ligand Tuberoinfundibular Peptide of 39 Residues TIP39 Regulate Intracellular Calcium and Influence Keratinocyte Differentiation
TIP39 and PTH2R help control calcium levels and skin cell development.
research Branching of Spiral Ganglion Neurites Is Induced by Focal Application of Fibroblast Growth Factor‐1
FGF-1 causes spiral ganglion neurites to branch more.
research Deletions in the KAP6-1 gene are associated with fiber traits in cashmere-producing goats
Certain changes in the KAP6-1 gene affect the thickness and length of cashmere goat fibers.
research Unexpected Autocrine Role of Vascular Endothelial Growth Factor in Squamous Cell Carcinoma
VEGF helps squamous cell carcinoma grow in ways beyond just blood vessel formation.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Urotensin II promotes the proliferation and secretion of vascular endothelial growth factor in rat dermal papilla cells by activating the Wnt-β-catenin signaling pathway
Urotensin II increases growth and VEGF production in rat skin cells by turning on the Wnt-β-catenin pathway.
research Molecular Cloning and Expression Analysis of Prostaglandin E Receptor 2 Gene in Cashmere Goat (Capra hircus) Skin during Hair Follicle Development
The PTGER2 gene is highly active in Cashmere goat skin and its activity changes with the hair growth cycle.
research eLife assessment: Touch receptor end-organ innervation and function require sensory neuron expression of the transcription factor Meis2
Meis2 is essential for touch sensation and proper nerve connection to touch receptors in certain skin areas of mice.
research The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17
AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
research Conditional Knockout in Mice Reveals the Critical Roles of Ppp2ca in Epidermis Development
PP2Acα is essential for proper hair and skin development.
research 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 Homozygous K5Cre transgenic mice have wavy hair and accelerated malignant progression in a murine model of skin carcinogenesis
Homozygous K5Cre transgenic mice have wavy hair and faster cancer progression.
research The innervation of the mystacial pad in the adult rat studied by anterograde transport of HRP conjugates
The mystacial pad's innervation in adult rats is more complex than previously thought.