PATHOGENIC

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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 
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 
Extracellular Vesicles in Pathogenic Infection,Transmission,and Immunity
《Engineering》2024年第12期228-240,共13页Junyao Xiong Usama Ashraf Jing Ye Shengbo Cao 
supported by the National Key Research and Development Program of China(2022YFD1801500 and 2022YFD1800105);the National Natural Science Foundation of China(32030107 and 32372993);the Fundamental Research Funds for the Central Universities(2662023PY005)。
Extracellular vesicles(EVs)are secreted by cells and widely exist in body fluids,serving as an essential vehicle of intercellular communication.In recent years,EVs have gained significant attention owing to their abil...
关键词：Extracellular vesicles PATHOGEN INFECTION TRANSMISSION IMMUNITY 
Blended Phenotypes From a SERPINA 11 Pathogenic Variant Over Underlying Immune Fetal Hydrops: A Rare Case Report and Literature Review
《Maternal-Fetal Medicine》2024年第4期257-261,共5页Manisha M.Beck Noel D.Luke Reena Sakte Anand Preethi Navaneethan Rekha Athiyarath Sumita Danda 
Fetal hydrops can stem from immune or nonimmune causes.Immune causes often involve red cell alloimmunization,whereas nonimmune causes encompass structural malformations,aneuploidy,infections,lymphatic system disorders...
关键词：Fetal chylothorax SERPINA11 gene Rhesus alloimmunization Fetal hydrops Prenatal diagnosis Blended phenotypes 
Active-type piezoelectric smart textiles with antifouling performance for pathogenic control
《npj Flexible Electronics》2024年第1期223-232,共10页Su Eon Lee Hanna Lee Jang Hwan Kim Jae Chul Park Sooah Kyung Hayoung Choi Su Hyun Baek Jun Hyun Park Sohyun Park Jeong-Min Kim Hye-Jun Jo Seung Hyeon Cho Jiwoong Kim Hojun Kim Seung Ho Han Jun Kyun Oh Bong Hoon Kim 
supported by the National Research Foundation of Korea(NRF)Grant funded by the Korea government(MSIT)(No.RS-2024-00347619,No.RS-2024-00407155,2022M3H4A1A02046445,RS-2023-00209955,RS-2024-00406240);supported by the Nano&Material Technology Development Program through the National Research Foundation of Korea(NRF)funded by Ministry of Science and ICT(RS-2024-00452380);supported by Korea Institute of Planning and Evaluation for Technology in Food,Agriculture and Forestry(IPET)through High-Risk Animal infectious Disease Control Technology Development Program,funded by Ministry of Agriculture,Food and Rural Affairs(MAFRA)(RS-2024-00396818).
Recently,an investigation into preventive measures for coronavirus disease 2019(COVID-19)has garnered considerable attention.Consequently,strategies for the proactive prevention of viral pathogens have also attracted ...
关键词：TEXTILES SMART PIEZOELECTRIC 
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