research Molecular cloning and characterization analysis of LEF-1 gene from Inner Mongolia Cashmere Goat
The LEF-1 gene in cashmere goats was successfully cloned and analyzed, showing potential for improving cashmere production.
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research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Rapid Screening of Anticoagulation Compounds for Biological Target-Associated Adverse Effects Using a Deep-Learning Framework in the Management of Atrial Fibrillation
The framework helps predict adverse effects of blood thinners, improving drug selection for atrial fibrillation.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Unusual acute lupus hemophagocytic syndrome – a test of diagnostic criteria: a case report
The 2012 criteria are better for diagnosing atypical lupus cases.
research Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults
The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research Wavelength-encoded laser particles for massively-multiplexed cell tagging
New laser particles can track thousands of cells in 3D models, improving single-cell analysis.
research Abstract P35
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research pH sensitive nano layered double hydroxides reduce the hematotoxicity and enhance the anticancer efficacy of etoposide on non-small cell lung cancer
The nano-carrier makes etoposide safer and more effective against lung cancer.
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 P50 Difficult to diagnose SLE manifestations associated with cardiac arrest, myocarditis, chronic pericarditis, polyneuropathy
Accurate diagnosis of SLE requires extensive testing due to its complex symptoms.
research The Aqualon SLT: A novel device for measuring hair stiffness and lubricity
The Aqualon SLT device measures hair stiffness and slipperiness to evaluate hair treatments.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
Researchers found two new genetic variants linked to Alzheimer's disease.
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 Evaluation of SARS-CoV-2 Entry, Inflammation and New Therapeutics in Human Lung Tissue Cells
New compounds effective against SARS-CoV-2 variants were identified using a rapid testing method with human lung cells.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Identification of llama KRTAP7-1 and KRTAP8-1 fiber genes and polymorphism screening
Mutations in specific llama genes may affect fiber quality for textiles.
research Design of Liposome Formulations for CRISPR/Cas9 Enzyme Immobilization: Evaluation of 5-Alpha-Reductase Enzyme Knockout for Androgenic Disorders
New liposome treatment successfully delivers CRISPR to deactivate a key enzyme in androgen-related disorders.
research Whole-genome sequencing of eight goat populations for the detection of selection signatures underlying production and adaptive traits
Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Carbobenzoxy-capped Phe-Lys(BODIPY TMR-X-acyloxymethyl ketone(QSY7)
Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Protective mitophagy in human hypoxic cardiomyocytes: mechanistic insights into SGLT2 inhibitor Dapagliflozin cardioprotection in ischemic injury
Dapagliflozin helps protect heart cells under stress by improving mitochondrial function and reducing cell damage.
research Sequence Analysis of mtDNA NADH-Ubiquinone Oxidoreductase Chain 1 Gene (ND1) of the Asian Black Bear Sichuan Subspecies (Ursus thibetanus mupinensis)
The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.
research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research PEO-b-PCL grafted niosomes: The cooperativilty of amphiphilic components and their properties in vitro and in vivo
The new drug delivery systems made with surfactants and block polymers are stable and not toxic.