research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
Search
for
Sort by
Research
870-900 / 1000+ results research Temporal lobe epilepsy exacerbation during pharmacological inhibition of endogenous neurosteroid synthesis
Stopping finasteride improved seizure control, suggesting neurosteroids affect seizures and treatment.
research TGFβ signaling regulates lipogenesis in human sebaceous glands cells
TGFβ signaling prevents sebaceous gland cells from producing fats.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research Fully automated chip-based nanoelectrospray ionization-mass spectrometry as an effective tool for rapid and high-throughput screening of 5α-reductase inhibitors
research Possible involvement of 5α-reduced neurosteroids in adrenergic and serotonergic stimulation of GFAP gene expression in rat C6 glioma cells
5α-reduced neurosteroids may help regulate glial cell differentiation.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research 563 CsA-induced hypertrichosis might be caused in part by inhibition of TGF-β2 expression in dermal papilla cells.
The medicine Cyclosporin A might cause excessive hair growth by reducing a protein that controls hair growth.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Reviewer #2 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
research Increased dipicolinic acid production with an enhanced spoVF operon in Bacillus subtilis and medium optimization
Genetically modifying a bacteria and changing its growth conditions significantly increased the production of a chemical called dipicolinic acid.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Inhibition of neurosteroid synthesis increases asphyxia-induced brain injury in the late gestation fetal sheep
Reducing neurosteroid levels worsens brain injury in fetal sheep.
research Intracellular protons accelerate aging and switch on aging hallmarks in mice
Acid inside cells speeds up aging and turns on aging signs in mice.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Abstract 5561: 20(S)-Protopanaxadiol-aglycone downregulates full-length and ligand-independent splice variants of androgen receptor
20(S)-Protopanaxadiol-aglycone may help prevent and treat prostate cancer by reducing androgen receptor activity.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
research Graying of Hair Produced by Ingestion of Phenylthiocarbamide
Eating phenylthiocarbamide made all the rats' hair go gray, but some returned to their original color after stopping.
research THE IMPACT OF HOMOCYSTEINE IN LUPUS ERYTHEMATOSUS: A LINK OF INFLAMMATION, SKIN AND CARDIOVASCULAR RISK
High homocysteine levels in lupus may increase inflammation and cardiovascular risk.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Characterization of recombinant human liver dehydroepiandrosterone sulfotransferase with minoxidil as the substrate
Human liver enzyme DHEA ST helps process minoxidil.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research An engineered ferritin nanocage co-delivery system for targeted hair cells protection and hearing loss attenuation
A new nanocage system protects hair cells and reduces hearing loss effectively.
research The deduced sequence of the novel protransglutaminase E (TGase3) of human and mouse
Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.
research Contrast-Enhanced Ultrasound (CEUS) Evaluation of Canine Prostatic Hyperplasia before and after Osaterone Acetate Therapy: Preliminary Results
Osaterone acetate reduces prostate size and enzyme levels in dogs with benign prostatic hyperplasia.
research The Enzymic Derivation of Citrulline Residues from Arginine Residues In Situ during the Biosynthesis of Hair Proteins that are Cross-Linked by Isopeptide Bonds
Hair follicles have an enzyme that converts arginine to citrulline in proteins.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Co-expression of PADI isoforms during progenitor differentiation enables functional diversity
Different PADI isoforms help cells develop diverse functions.