research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
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690-720 / 1000+ results research Targeted expression of spermidine/spermine N1-acetyltransferase increases susceptibility to chemically induced skin carcinogenesis
Increasing SSAT makes skin more prone to cancer.
research The transcription elongation factors Spt4 and Spt6 promote dermal adipocyte differentiation
Spt4 and Spt6 are essential for fat cell development.
research Spatiotemporal Expression Characterization of KRTAP6 Family Genes and Its Effect on Wool Traits
KRTAP6 genes affect wool quality in sheep.
research Screening and identification of efficient strain in selenium oxyanions sorption in order to biological wastewater treatment
The Enterobacter isolate AMS1-S8 is effective for removing selenium from wastewater.
research Health-related quality of life with sacituzumab govitecan in HR+/HER2− metastatic breast cancer in the phase III TROPiCS-02 trial
Sacituzumab govitecan improves quality of life and symptoms in breast cancer patients, except for causing more diarrhea.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research 10.1063/5.0132123.1
research ZnO@PDA@Ag Nanocomposite-Mediated Delivery of 9-Bromonoscapine, an Anticancer Agent, for Enhanced Lung Cancer Therapy
The nanocomposite effectively targets lung cancer cells without harming normal cells.
research Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination
The ASIP gene is crucial for determining cattle coat color.
research P27: Coverage of Large Sacral Pressure Sores with the Gluteal Perforator Flap
The SGAP flap effectively treats large sacral pressure sores with good results and minimal complications.
research Identification of Trichohyalin-Like 1, an S100 Fused-Type Protein Selectively Expressed in Hair Follicles
TCHHL1 is a protein important for hair growth, found in hair follicles.
research Formulation and evaluation of self-nanoemulsifying drug delivery system for improved oral delivery of exemestane hydrochloride
The new drug delivery system improves exemestane's absorption and effectiveness.
research PC-SPES Studies Promising, But Manufacturer Shuts Down
Promising cancer treatments were found, but the manufacturer closed.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research Congress abstracts SPEDM
The Bethesda system is effective for identifying thyroid cancer but has low sensitivity.
research PSS20 MEDIATION MODELING AND MEASUREMENT CHARACTERISTICS OF THE ITCH SEVERITY SCORE FROM A PHASE 2B TRIAL OF ORAL CP-690-550 IN PATIENTS WITH MODERATE TO-SEVERE PLAQUE PSORIASIS
CP-690,550 significantly reduced itching in patients with moderate-to-severe plaque psoriasis.
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 P7 p63, K14 and p53 expression in epithelial layers of tumor-distant oral mucosa in patients with oral squamous cell carcinoma
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Identification of a Cyclosporine-Specific P450 Hydroxylase Gene through Targeted Cytochrome P450 Complement (CYPome) Disruption in Sebekia benihana
A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.
research SbbHLH85, a bHLH Member, Modulates Resilience to Salt Stress By Regulating Root Hair Growth in Sweet Sorghum
The SbbHLH85 protein helps sweet sorghum grow more root hairs but makes the plant more sensitive to salt.
research Novel recombinant human acid α-glucosidase with optimal glycosylation is significantly better than standard of care enzyme replacement for glycogen clearance in skeletal muscles of GAA knock-out mice
research S3301 Abnormal Liver Enzymes in Thymoma-Associated Multiorgan Autoimmunity
Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
research Filtration of Transgenic Sheep Skin Fibroblasts with KAP6.1-GFP-polymerized Spider Dragline Silk Protein Gene(4S)
Transgenic sheep cells with spider silk gene were successfully created for future sheep hair expression.
research Canadian Expert Recommendations on Safety Overview and Toxicity Management Strategies for Sacituzumab Govitecan Based on Use in Metastatic Triple-Negative Breast Cancer
Sacituzumab Govitecan is effective for certain breast cancers but requires careful management of side effects.
research SAT-127 Localization and Treatment of the Ectopic ACTH Syndrome Using Somatostatin Analogues
Somatostatin analogues effectively manage ectopic ACTH syndrome when surgery isn't possible.
research Single‐center study to determine the safety and efficacy of CT‐707 in Chinese patients with advanced anaplastic lymphoma kinase‐rearranged non‐small‐cell lung cancer
CT-707 is effective and safe for treating certain Chinese lung cancer patients.
research Multicentric parallel phase II trial of the polo-like kinase 1 inhibitor BI 2536 in patients with advanced head and neck cancer, breast cancer, ovarian cancer, soft tissue sarcoma and melanoma. The first protocol of the European Organization for Research and Treatment of Cancer (EORTC) Network Of Core Institutes (NOCI)
BI 2536 had limited effectiveness against several advanced cancers and caused significant side effects.
research AB0163 ANTI-KU ANTIBODIES: MUCH MORE THAN SCLEROMYOSITIS
Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.