Results 51 to 60 of about 28,233 (215)

Phenotypic Heterogeneity by Germline Mismatch Repair Gene Defect in Lynch Syndrome Patients

Acta Médica Portuguesa, 2016
Introduction: Lynch syndrome is the most common form of hereditary colorectal cancer, being also responsible for endometrial and other types of cancers. It is associated with germline mutations in DNA mismatch repair genes and microsatellite instability.
Jorge Hernâni-Eusébio, Elisabete Barbosa   +1 more
doaj   +1 more source

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli, Cecilia Nalli, Francesca Crisafulli, Carlo Garaffoni, Marcello Govoni, Giulia Voltarel, Alba C. Pozzi, Beatrice Maranini, Ettore Silvagni, Alessandra Bortoluzzi, Angela Tincani   +10 more
wiley   +1 more source

Smart Nanotechnologies for Multimodal Neuromodulation and Brain Interfacing

Advanced Science, EarlyView.
Recent advances in smart nanotechnologies are expanding the toolbox for brain interfacing, from wireless neuromodulation and high‐resolution sensing to targeted delivery within the central nervous system. By combining responsive nanomaterials with bioinspired design, these platforms enable multimodal interactions with neurons and glia, while also ...
Tommaso Curiale, Marie Celine Lefevre, Alessio Carmignani, Maria Cristina Ceccarelli, Matteo Battaglini, Attilio Marino, Gianni Ciofani   +6 more
wiley   +1 more source

Beta catenin and cytokine pathway dysregulation in patients with manifestations of the "PTEN hamartoma tumor syndrome"

BMC Medical Genetics, 2012
Background The "PTEN hamartoma tumor syndrome" (PHTS) includes a group of syndromes caused by germline mutations within the tumor suppressor gene "phosphatase and tensin homolog deleted on chromosome ten" (PTEN), characterized by multiple polyps in the ...
Galatola Martina, Paparo Lorella, Duraturo Francesca, Turano Mimmo, Rossi Giovanni, Izzo Paola, De Rosa Marina   +6 more
doaj   +1 more source

UBE2O Drives Immune Evasion and Radioimmunotherapy Resistance in Lung Cancer by Degrading CDKL1 to Induce PD‐L1 Transcription

Advanced Science, EarlyView.
UBE2O targets CDKL1 for the degradation to upregulate PD‐L1 expression and promotes resistance to radioimmunotherapy in lung cancer, supporting the potential of targeting UBE2O as a promising therapeutic strategy. ABSTRACT Resistance to radioimmunotherapy is one of the primary causes of treatment failure in lung cancer patients; however, the underlying
Huichan Xue, Xiaohua Jie, Zhiwei Liu, Ruoxin Fang, Shuo Wu, Xiaorong Dong, Shuangbing Xu   +6 more
wiley   +1 more source

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source

Skin, Uterus, and Genes: When Painful Skin Lesions Tell a Familial Syndrome

Acta Médica Portuguesa
n/a.
Ivânia Soares, Inês Pereira-Amaral, Pedro de Vasconcelos, Paulo Filipe   +3 more
doaj   +1 more source

Fibrillarin Resists Cellular Senescence Via SIRT1‐Dependent Nicotinamide Metabolism and Its Inhibition Sensitizes Senolytic Therapy in Esophageal Squamous Cell Carcinoma

Advanced Science, EarlyView.
FBL directly binds to and stabilizes SIRT1 by blocking its ubiquitin‐proteasome degradation, thereby sustaining nicotinamide metabolism and redox homeostasis to counteract cellular senescence in ESCC. Genetic and pharmacological suppression of FBL sensitizes tumor cells to senolytic therapy.
Xing Jin, Hong Liu, Ling Gao, Lei Liu, Ji‐Bin Liu, Xiaoxia Jin, Ming‐Song Wang, Dan Liu, Li Feng, Wen‐Lian Chen   +9 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Large desmoid tumors in familial adenomatous polyposis

Autopsy and Case Reports, 2018
Desmoid tumors develop from connective tissue, fasciae, and aponeuroses, and may occur in the context of familial adenomatous polyposis or may arise sporadically; also, they may be extra-abdominal, intra-abdominal, or located in the abdominal wall. These
Vítor Devezas, Laura Elisabete Barbosa, Rosa Ramalho, Cristina Sarmento, José Costa Maia   +4 more
doaj