research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
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450-480 / 1000+ results research First-in-human phase 1 study of ETC-159 an oral PORCN inhbitor in patients with advanced solid tumours.
ETC-159 was safe up to 30 mg, but no tumor shrinkage was seen.
research Targeted gene delivery to skin cells in vivo: A comparative study of liposomes and polymers as delivery vehicles
Nonionic liposomes are the best for delivering genes to skin cells.
research Nanoflow UHPLC-MS3 for sensitive detection of cortisol in a single-strand 1-cm human hair segment
research Six SNPs and a TTG indel in sheep desmoglein 4 gene are in complete linkage disequilibrium
Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
research G.P.2.16 Valproate, acetylcarnitine, folic acid and vitamin B12 in spinal muscular atrophy: Preliminary data of an open-label study in children
The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research PLAU and SerpinB2 role in apoptosis in leprosy
PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
research Acitretin-Altered Squamous Cell Carcinoma
research Protein-Losing Enteropathy as the First Presentation of Systemic Lupus Erythematosus in a Resource-Limited Setting in Sri Lanka: A Case Report
A woman in Sri Lanka was diagnosed with lupus after presenting with protein loss from the gut and other symptoms.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research Effects of SLC45A2 and GPNMB on Melanin Deposition Based on Transcriptome Sequencing in Chicken Feather Follicles
SLC45A2 and GPNMB genes help control chicken feather color by promoting melanin.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Polymeric micelle mediated follicular delivery of spironolactone: Targeting the mineralocorticoid receptor to prevent glucocorticoid-induced activation and delayed cutaneous wound healing
Using polymeric micelles to deliver spironolactone topically could improve wound healing in skin affected by glucocorticoids.
research The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research Leucine-activated nanohybrid biofilm for skin regeneration via improving cell affinity and neovascularization capacity
The biofilm enhances skin healing by promoting cell growth and blood vessel formation.
research Phospholipase C 1 is required for skin stem cell lineage commitment
Phospholipase Cδ1 is crucial for normal skin and hair development.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Microfluidic Technology for the Generation of Cell Spheroids and Their Applications
Microfluidic technology improves cell spheroid creation for better drug testing and tissue engineering.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research Epidermal growth factor receptor mutant T790M-L858R-V948R inhibitor from Calophyllum inophyllum L. leaf as potential non-small cell lung cancer drugs
A compound from Calophyllum inophyllum L. leaf may help treat non-small cell lung cancer.
research Integrated Lipidomics in the Secreted Phospholipase A2 Biology
Different sPLA2 enzymes have unique roles in phospholipid metabolism and biological processes.
research 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 P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
research Generating mouse models of degenerative diseases using Cre/lox-mediated in vivo mosaic cell ablation
The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
research Solid lipid nanoparticles: a promising technology for delivery of poorly water-soluble drugs
Solid lipid nanoparticles can improve how well drugs that don't dissolve in water work and are safe.
research Green formulation of spironolactone loaded chitosan coated nano lipid carrier for treatment of acne vulgaris: a randomized double-blind clinical trial
Chitosan-coated spironolactone nano carriers effectively treat acne without side effects.