research Novel associations of VPS13C with phenotype and conversion of idiopathic REM sleep behavior disorder
VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
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930-960 / 1000+ resultsresearch Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Referee report. For: Case Report: Extensive digital gangrene as a primary manifestation of late-onset systemic lupus erythematosus [version 2; peer review: 2 approved]
Digital gangrene can be an unusual first sign of late-onset lupus.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Solid Lipid Nanoparticles (SLN): Method, Characterization and Applications
Solid lipid nanoparticles are promising for delivering various drugs and improving treatment effectiveness.
research Mapping the expression of epithelial hair follicle stem cell‐related transcription factors LHX 2 and SOX 9 in the human hair follicle
LHX2 and SOX9 identify unique hair follicle cell groups, crucial for hair maintenance.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Analytical determination, antioxidant and anti-inflammatory activities of Bhamrung-Lohit a traditional Thai medicine
Bhamrung-Lohit may help with inflammation and oxidation.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Genome assembly of Stephania longa provides insight into cepharanthine biosynthesis
Stephania longa's genome helps understand how it makes the alkaloid cepharanthine.
research Journal Review
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research Sodium Valproate-Induced Hyperpigmentation
Sodium valproate can rarely cause skin darkening, which may improve after stopping the drug.
research Clinical assessment of CL22209, a standardized proprietary extract of <i>Asparagus racemosus</i>, for mitigating vasomotor and menstrual symptoms in perimenopausal women: A randomized, double-blind, placebo-controlled study
CL22209, an Asparagus racemosus extract, safely reduces perimenopausal symptoms and balances hormones.
research 409 ANDROGEN RECEPTOR GENE POLYMORPHISM (SNP RS6152) – ITS RELATIONSHIP TO ANDROGEN-SENSITIVE GENES EXPRESSION IN BENIGN PROSTATIC HYPERPLASIA, CARCINOMA OF THE PROSTATE AND ANDROGENETIC ALOPECIA
Gene variation affects prostate issues and hair loss.
research The efficacy and safety of valproic acid medications with controlled active ingredient release in adults in real clinical practice from the position of pharmacokinetic and pharmacogenetic approaches
Sustained-release sodium valproate is effective in treating epilepsy, with some side effects influenced by genetics.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat
A new gene mutation causes long hair in some Maine Coon cats.
research S100A6: molecular function and biomarker role
S100A6 is important for cell functions and can help diagnose and treat diseases.
research Long noncoding RNA and gene expression analysis of melatonin-exposed Liaoning cashmere goat fibroblasts indicating cashmere growth
Melatonin treatment increases a specific RNA in goat cells that boosts cashmere growth.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research The antiviral activity of a small molecule drug targeting the NSP1-ribosome complex against Omicron, especially in elderly patients
Golvatinib shows promise as a treatment for Omicron in elderly patients.
research Identification of Candidate Genes for Min Pig Villi Hair Traits by Genome-Wide Association of Copy Number Variation
Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
research The Free Communications of the Eighth Clinical Congress (Virtual) of the Gulf Chapter of the American Association of Clinical Endocrinologists; November 5–7, 2020
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research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research A comparison of the effects of lamotrigine and levetiracetamand lamotrigine and valproate sodium in patients with epilepsy
Levetiracetam and valproate sodium both reduce seizures when added to lamotrigine, but levetiracetam has fewer side effects.
research Small RNAs Loom Large During Reprogramming
MicroRNAs can reprogram cells into stem cells faster and more efficiently than traditional methods.
research Cloning and sequence analysis of KAP 6.1 gene in Xinjiang fine-wool sheep
Researchers cloned a gene from Xinjiang fine-wool sheep, finding it very similar to other sheep and somewhat similar to goats, humans, and rabbits.
research Notes From the Floor: A Report of the Nashville Meeting
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research Author response: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.