PATHOGENIC

作品数：358被引量：890H指数：12
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Breast cancer risk associated with BRCA1 and BRCA2 pathogenic variants in the Eastern Chinese population
《Cancer Pathogenesis and Therapy》2025年第2期147-153,共7页Sanjian Yu Xia Qiu Zezhou Wang Jialong Xiao Hui Jie Hailin Shan Qing Shao Heng Xia Feng Cao Jun Li Cuixia Fu Liqin Chen Xiaofang Lu Tingting Su Qianqian Shengqun Hou Honglian Wang Ying Zheng Zhimin Shao Yun Liu Zhen Hu 
supported by the Shanghai Committee of Science and Technology Funds(No.14441901402);the National Natural Science Foundation of China(No.181972468);the AITA Biomedical Research Institute Breast Cancer Genetic Susceptibility Gene Research Fund.
Background:Population-based penetrance studies of breast cancer gene 1/2(BRCA1/2)pathogenic or likely pathogenic(P/LP)variants in the Eastern Chinese population are currently lacking;thus,we aimed to investigate the p...
关键词：BRCA1/2 gene mutations Breast cancer Chinese population Population-based studies 
Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants
《Genes & Diseases》2025年第3期68-71,共4页Kévin Cassinari Anne Rovelet-Lecrux Céline Derambure Myriam Vezain Sophie Coutant Anne-Claire Richard Nathalie Drouot Juliette Coursimault Gabriella Vera Alice Goldenberg Pascale Saugier-Veber Camille Charbonnier Gaël Nicolas 
the Institutional Review Board of the Rouen University Hospital(CERDE notification E2023-65).
Cornelia de Lange Syndrome(CdLS)is an intellectual disability syndrome characterized by distinctive clinical features including growth retardation,limb malformation,and a characteristic facial dysmorphism.1 Six genes,...
关键词：gene expression regulation growth retardationlimb mau protein levels nipbl pathogenic variants facial dysmorphism transcriptomic consequences organizing chromatin intellectual disability syndrome 
Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria
《Genes & Diseases》2025年第2期68-71,共4页Yujing Sun Yuan Liu Xiaoli Zhang Ling Jiang 
funded by the National Natural Science Foundation of China Youth Fund (No.82200918);the Natural Science Foundation of Shandong Province Youth Fund (China) (No.ZR2021QC111).
Hereditary hypophosphatemic rickets with hypercalciuria(HHRH)is a rare autosomal recessive disorder characterized by hypophosphatemia,hypercalciuria,and recurrent nephrolithiasis,often resulting in rickets and osteoma...
关键词：calci SLC HEREDITARY 
Identification of a pathogenic NHLRC1 variant in a consanguineous Pakistani family affected with severe and rapidly progressive Lafora disease
《Acta Epileptologica》2025年第1期124-130,共7页Zain Aslam Bibi Zubaida Ranjha Khan Mazhar Badshah Muhammad Naeem 
Zain Aslam(112-36551-2BM1-037);Bibi Zubaida(212-52789-2BM2-080);supported by the Higher Education Commission of Pakistan under Indigenous Ph.D.Fellowships Program.
Background Autosomal recessively inherited progressive myoclonic epilepsy of Lafora,which is also known as Lafora disease,is a fatal neurodegenerative disorder.It affects individuals in late childhood or early adolesc...
关键词：Progressive myoclonic epilepsy Lafora bodies Laforin DNA sequencing Mutation 
Potential Protective or Pathogenic Roles of Parabacteroides distasonis in Diseases:A Narrative Review
《Infectious Microbes & Diseases》2025年第1期27-34,共8页Chaozhong Luo Hainv Gao 
supported by the National Key Research and Development Program(2021YFA1301104 and 2022YFC2304505);National Natural Science Foundation of China(81790634).
Parabacteroides distasonis is a gram-negative,non–spore-forming,rod-shaped,anaerobic bacterium,and an important gut colonizer first iso-lated from human feces in 1933.Over more than 90 years of research,P.distasonis ...
关键词：Parabacteroides distasonis antibiotic resistance liver fibrosis inflammatory bowel disease MECHANISM 
Transient receptor potential channels and calcium dysregulation: a pathogenic duo in Parkinson's disease
《Neural Regeneration Research》2025年第3期808-810,共3页Iqira Saeed Linlin Ma 
Parkinson's disease(PD) has a complex and multifactorial pathophysiology. Various studies, conducted both in pre-clinical models and PD patients, have reported a link between the disruption of calcium(Ca^(2+)) homeost...
关键词：HOMEOSTASIS CLINICAL subsequent 
Protocol for detection of pathogenic enteric RNA viruses by regular monitoring of environmental samples from wastewater treatment plants using droplet digital PCR
《Science in One Health》2024年第1期207-214,共8页Ram Kumar Nema Surya Singh Ashutosh Kumar Singh Devojit Kumar Sarma Vishal Diwan Rajnarayan R.Tiwari Rajesh Kumar Mondal Pradyumna Kumar Mishra 
Background:The present comprehensive protocol is focused on the detection of pathogenic enteric RNA viruses,explicitly focusing on norovirus genogroup II(GII),astrovirus,rotavirus,Aichi virus,sapovirus,hepatitis A and...
关键词：Enteric RNA viruses Norovirus GII Wastewater treatment plants Droplet digital PCR Environmental surveillance Public health 
Identification of a novel germline APC N-terminal pathogenic variant associated with attenuated familial adenomatous polyposis
《Genes & Diseases》2024年第6期12-15,共4页Giovanna Forte Valentina Grossi Filomena Cariola Antonia Lucia Buonadonna Paola Sanese Katia De Marco Candida Fasano Martina Lepore Signorile Vittoria Disciglio Cristiano Simone 
Adenomatouspolyposis coli(APC)is akey tumor suppressor gene playing a central role in the Wnt signaling pathway throughβ-catenin down-regulation.1 APC germline pathogenic variants are associated with familial adenoma...
关键词：POLYPOSIS adenomatous FAMILIAL 
Properdin deficiency associated with systemic meningococcal disease due to a novel p.Cys337Arg pathogenic variant
《Genes & Diseases》2024年第6期43-46,共4页Laura Gonzalez-Sanchez Ana Mei Agudo Anne Van Den Rym Maria Isabel Begiristain Alazne Saizar Rebeca Perez de Diego Pilar Nozal Alberto Lopez-Lera Margarita Lopez-Trascasa Fernando Corvillo 
funded by the Spanish Instituto de Salud Carlos III (ISCIII)and the European Regional Development Fund European Union (grant Pl15-00255);by the Spanish Autonomous Region ofMadrid (Complement II-CMnetwork;S2017/BMD-3673);F.C.was awarded a research fellowship by the Asociacion Internacional de Familiares y Afectados de Lipodistrofias (AELIP).
Properdin(FP)is a soluble glycoprotein with a key role in the regulation of the alternative pathway(AP)of the complement system.1 Neutrophils are the main source of FP,although monocytes,bone marrow progenitors,and T ...
关键词：Xp11.2 GLYCOPROTEIN PROGENITOR 
Germline pathogenic variants among high hereditary risk patients with breast and ovarian cancer and unaffected subjects in Lebanese Arab women
《World Journal of Clinical Oncology》2024年第12期1481-1490,共10页Hiba A Moukadem Mohammad A Fakhreddine Nada Assaf Nadine Safi Ahmad Al Masry Monita Al Darazi Rami Mahfouz Nagi S El Saghir 
BACKGROUND The prevalence of germline pathogenic variants in high hereditary risk breast and/or ovarian cancer patients and unaffected subjects referred for testing is an unmet need in low and middle-income countries....
关键词：Breast cancer Ovarian cancer Breast cancer susceptibility gene 1/2 Germline pathogenic variant High hereditary risk 
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