Results 11 to 20 of about 959,012 (263)

A very early diagnosis of Alstrӧm syndrome by next generation sequencing

BMC Medical Genetics, 2020
Background Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesity, insulin ...
Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo, Matteo Bertelli   +12 more
doaj   +1 more source

Intelligent Electrochemical Point-of-Care Test Method with Interface Control Based on DNA Pyramids: Aflatoxin B1 Detection in Food and the Environment

Foods, 2023
Sensitive, intelligent point-of-care test (iPOCT) methods for small molecules like aflatoxin B1 (AFB1) are urgently needed for food and the environment. The challenge remains of surface control in iPOCT.
Wenqin Wu, Yizhen Bai, Tiantian Zhao, Meijuan Liang, Xiaofeng Hu, Du Wang, Xiaoqian Tang, Li Yu, Qi Zhang, Peiwu Li, Zhaowei Zhang   +10 more
doaj   +1 more source

Genetic Testing and Genetic Screening [PDF]

Kennedy Institute of Ethics Journal, 1993
In recent years there has been an enormous expansion in the knowledge that may be gleaned from the testing of an individual's genetic material to predict present or future disability or disease either for oneself or one's offspring. The Human Genome Project, which is currently mapping the entire human gene system, is identifying progressively more ...
openaire   +2 more sources

Mesenchymal Stem Cell-Derived Exosomes Ameliorate Alzheimer’s Disease Pathology and Improve Cognitive Deficits

Biomedicines, 2021
The accumulation of extracellular β-amyloid (Aβ) plaques within the brain is unique to Alzheimer’s disease (AD) and thought to induce synaptic deficits and neuronal loss. Optimal therapies should tackle the core AD pathophysiology and prevent the decline
Yi-An Chen, Cheng-Hsiu Lu, Chien-Chih Ke, Sain-Jhih Chiu, Fong-Shya Jeng, Chi-Wei Chang, Bang-Hung Yang, Ren-Shyan Liu   +7 more
doaj   +1 more source

Evidence‐based consensus guidelines for ALS genetic testing and counseling

Annals of Clinical and Translational Neurology, 2023
Objective Advances in amyotrophic lateral sclerosis (ALS) gene discovery, ongoing gene therapy trials, and patient demand have driven increased use of ALS genetic testing. Despite this progress, the offer of genetic testing to persons with ALS is not yet
Jennifer Roggenbuck, Breda H. F. Eubank, Joshua Wright, Matthew B. Harms, Stephen J. Kolb, the ALS Genetic Testing and Counseling Guidelines Expert Panel   +5 more
doaj   +1 more source

The MyoD1 Promoted Muscle Differentiation and Generation by Activating CCND2 in Guanling Cattle

Animals, 2022
The purpose of this study was to analyze the transcriptome of MyoD1 gene knockout MDBK cells (bovine kidney cells) using high-throughput sequencing.
Di Zhou, Yan Wang, Rong Yang, Fu Wang, Zhonghai Zhao, Xin Wang, Lingling Xie, Xingzhou Tian, Guoze Wang, Bo Li, Yu Gong   +10 more
doaj   +1 more source

Cardiovascular safety of Janus kinase inhibitors in patients with rheumatoid arthritis: systematic review and network meta-analysis

Frontiers in Pharmacology, 2023
Background: Janus kinase (JAK) inhibitors have emerged as a progressively utilized therapeutic approach for the management of rheumatoid arthritis (RA). However, the complete determination of their cardiovascular safety remains inconclusive.
Qige Wei, Qige Wei, Qige Wei, Hui Wang, Hui Wang, Hui Wang, Jianglin Zhao, Jianglin Zhao, Jianglin Zhao, Zhongping Luo, Zhongping Luo, Zhongping Luo, Chufeng Wang, Chufeng Wang, Chufeng Wang, Chunmei Zhu, Chunmei Zhu, Chunmei Zhu, Na Su, Shengzhao Zhang, Shengzhao Zhang, Shengzhao Zhang   +21 more
doaj   +1 more source

Evaluation of a two-test strategy for HIV screening in a low-prevalence setting and the indications for optimizing clinical management

Heliyon, 2023
Objectives: To evaluate a two-test strategy for HIV screening in the low-prevalence population and to assess the feasibility of utilizing the optimal signal-to-cutoff (S/CO) threshold on the chemiluminescence immunoassay(CMIA) and an additional rapid ...
Yu Huang, Haiyue Liu, Shuhui Dai, Xiaoying Lan, Shuojie Liu, Xiaoying Ren, Chaoyang Huang, Xun Li, Guolin Hong   +8 more
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Identification of Pathogenic Fusarium spp. Causing Maize Ear Rot and Poten tial Mycotoxin Production in China

Toxins, 2016
Ear rot is a serious disease that affects maize yield and grain quality worldwide. The mycotoxins are often hazardous to humans and livestock. In samples collected in China between 2009 and 2014, Fusarium verticillioides and F.
Canxing Duan, Zihui Qin, Zhihuan Yang, Weixi Li, Suli Sun, Zhendong Zhu, Xiaoming Wang   +6 more
doaj   +1 more source