research PSXIV-17 Examining Mammary Gland Transcriptomic Profiles Using Rna-Seq in Slick and Wild-Type Haired Holstein Cattle Under Tropical Conditions
SLICK cattle have better heat tolerance due to specific gene expression and pathway differences.
Search
for
Sort by
Research
570-600 / 1000+ results 
research POST-COVID 19 ENCEPHALITIS IN PATIENT WITH DE NOVO MUTATION IN THE SCN1A GENE, A CASE REPORT
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Decision letter: ETS family transcriptional regulators drive chromatin dynamics and malignancy in squamous cell carcinomas
ETS2 drives cancer progression in squamous cell carcinoma and is linked to poor patient outcomes.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research De novo designed bifunctional proteins for targeted protein degradation
Newly designed proteins can effectively degrade specific proteins in cells, offering a promising alternative for targeted protein degradation.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research 710 BIOMARKERS OF SUNITNIB CLINICAL RESPONSE IN METASTATIC RENAL CLEAR CELL CARCINOMA PATIENTS
research Morphological and functional analysis on M3R mediated sweating in TSC1 k/o mouse
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research CBL1‐CIPK26‐mediated phosphorylation enhances activity of the NADPH oxidase RBOHC, but is dispensable for root hair growth
A specific protein complex increases the activity of a plant enzyme, but this action is not required for plant root hair growth.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research 26SCS-Loaded SilMA/Col Composite Sponge with Well-Arranged Layers Promotes Angiogenesis-Based Diabetic Wound Repair by Mediating Macrophage Inflammatory Response
The composite sponge helps heal diabetic wounds by reducing inflammation and promoting new blood vessel growth.
research Very-long-chain Acyl-CoA Synthetases
Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.
research Renal tubular dysfunction presenting as recurrent hypokalemic periodic quadriparesis in systemic lupus erythematosus
A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Chronic Lupus Erythematosus and Systemic Scleroderma Coexistent at the Same Patient
A patient had both chronic lupus and systemic scleroderma, requiring careful treatment to manage symptoms.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research ZmSPL10, ZmSPL14 and ZmSPL26 act together to promote stigmatic papilla formation in maize through regulating auxin signaling and ZmWOX3A expression
ZmSPL10, ZmSPL14, and ZmSPL26 genes are essential for forming maize structures needed for pollen capture and kernel production.
research Lithium: one drug, five complications
Lithium poisoning can cause severe health complications and requires careful monitoring.
research Author response: ETS family transcriptional regulators drive chromatin dynamics and malignancy in squamous cell carcinomas
ETS2 is crucial in squamous cell carcinoma development and could be a therapeutic target.
research TMPRSS2, required for SARS-CoV-2 entry, is downregulated in lung cells by enzalutamide, a prostate cancer therapeutic
A prostate cancer drug can lower the levels of a protein that the coronavirus uses to enter lung cells.
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 LP-206 ANA-negative lupus presenting with segmental hyalinizing vasculitis and valvular heart disease – a rare case report
Early recognition and aggressive treatment can significantly improve rare ANA-negative lupus with heart and skin issues.