research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
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270-300 / 1000+ results research Decision letter: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 helps retinal cells respond to signals for eye development.
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus
The new SLICC criteria for diagnosing lupus are more sensitive and accurate than the old criteria.
research LncRNA018392 promotes proliferation of Liaoning cashmere goat skin fibroblasts through up-regulation of CSF1R by binding to SPI1
A specific RNA helps increase the growth of skin cells in Liaoning cashmere goats by working with a protein to boost a growth-related gene.
research The development of a solid lipid nanoparticle (SLN)-based lacticin 3147 hydrogel for the treatment of wound infections
The new gel effectively treats MRSA-infected wounds for longer.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research A Novel Ion – selective Polymeric Membrane Sensor for Determining Thallium(I) With High Selectivity
The sensor accurately measures thallium ions in solutions with high selectivity.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research Nanoflow UHPLC-MS3 for sensitive detection of cortisol in a single-strand 1-cm human hair segment
research An LRH-RSL4 feedback regulatory loop controls the determinate growth of root hairs in Arabidopsis
A feedback loop between LRH and RSL4 controls root hair growth in Arabidopsis.
research Studying Cytotoxic T-lymphocyte- Associated Antigen-4 (CTLA-4) gene Polymorphism in a Sample of Iraqi Women with Polycystic Ovarian Syndrome
The CTLA-4 gene change studied does not affect Polycystic Ovarian Syndrome in the women tested.
research 2-Substituted 4-(Thio)chromenone 6-O-Sulfamates: Potent Inhibitors of Human Steroid Sulfatase
New compounds were made that block an enzyme linked to breast cancer better than existing treatments.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Optimization of Nanostructured Lipid Carriers (NLC) Extract Crude Fucoidan Algae Brown (Sargassum chrysanthemum): Design and Characterization
The developed carrier may improve hair growth treatments using brown algae extract.
research Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome
Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
research Potent Efficacy of Computer-Aided Designed Peptide Degrader Drug on PCSK9-Mediated Hypercholesterolemia
Cadd4 effectively reduces cholesterol levels without side effects.
research 13777 The off-label use of spironolactone in female pattern hair loss
GSK-36 downregulation with UTMD improves plaque stability in atherosclerosis treatment.
research Genotypes of Single-nucleotide polymorphisms on DENND1A in an association with polycystic ovary syndrome among Saudi Arabian females
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
research Arachidonate 12-Lipoxygenase Inhibitors Promote S100A3 Citrullination in Cultured SW480 Cells and Isolated Hair Follicles
Inhibiting ALOX12 can help hair cuticle maturation by increasing S100A3 citrullination.
research Development and Optimisation of Spironolactone Nanoparticles for Enhanced Dissolution Rates and Stability
Nanoparticles with more oleic acid improved the delivery and stability of the drug spironolactone.
research A green light emitting turn-on ionic liquid-based nano-optode for selective and sensitive detection of dextran sulphate
A new fluorescent material can detect dextran sulfate sodium, turning green when present, useful for forensic and environmental monitoring.
research Telitacicept for systemic lupus erythematosus with post‑surgical papillary thyroid carcinoma: A case report
Telitacicept helped stabilize complement levels in a patient with lupus and thyroid cancer.
research Integrated Lipidomics in the Secreted Phospholipase A2 Biology
Different sPLA2 enzymes have unique roles in phospholipid metabolism and biological processes.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research NUDT15,FTO, andRUNX1genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
research Preclinical Development and Phase I Study of ZSYY001 , a Polymeric Micellar Paclitaxel for Advanced Solid Tumor
ZSYY001 is safe, well-tolerated, and shows promise for treating advanced solid tumors.