Results 21 to 30 of about 442,293 (268)

Case Report: Discovery a Novel SARS-CoV-2 Variant in a Six-Months Long-Term Swab Positive Female Suffering From Non-Hodgkin Lymphoma

Frontiers in Oncology, 2021
BackgroundWe report the case of a woman with non-Hodgkin lymphoma who remained positive on the molecular assay for SARS-CoV-2 for six months: she has never experienced a severe form of COVID-19 although in absence of seroconversion.MethodsThe whole SARS ...
Ettore Capoluongo, Ettore Capoluongo, Carmela Nardelli, Carmela Nardelli, Carmela Nardelli, Maria Valeria Esposito, Antonio Riccardo Buonomo, Monica Gelzo, Monica Gelzo, Biagio Pinchera, Emanuela Zappulo, Giulio Viceconte, Giuseppe Portella, Mario Setaro, Ivan Gentile, Giuseppe Castaldo, Giuseppe Castaldo   +16 more
doaj   +1 more source

Identification of five novel SCN1A variants

Frontiers in Behavioral Neuroscience, 2023
BackgroundEpilepsy is characterized by recurrent unprovoked seizures. Mutations in the voltage-gated sodium channel alpha subunit 1 (SCN1A) gene are the main monogenic cause of epilepsy. Type and location of variants make a huge difference in the severity of SCN1A disorder, ranging from the mild phenotype (genetic epilepsy with febrile seizures plus ...
Baitao Zeng, Baitao Zeng, Haoyi Zhang, Qing Lu, Qing Lu, Qingzi Fu, Qingzi Fu, Yang Yan, Yang Yan, Wan Lu, Wan Lu, Pengpeng Ma, Pengpeng Ma, Chuanxin Feng, Chuanxin Feng, Jiawei Qin, Jiawei Qin, Laipeng Luo, Laipeng Luo, Bicheng Yang, Bicheng Yang, Yongyi Zou, Yongyi Zou, Yanqiu Liu, Yanqiu Liu   +24 more
openaire   +3 more sources

Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

Frontiers in Genetics, 2022
Rubinstein–Taybi Syndrome (RSTS) is a rare congenital disease with distinctive facial features, broadening of the thumbs and halluces, and developmental delay. RSTS is caused by de novo genetic alterations in CREBBP and the homologous EP300 genes.
Yu-Rong Lee, Yu-Rong Lee, Yu-Chen Lin, Yu-Chen Lin, Yi-Han Chang, Yi-Han Chang, Hsin-Yu Huang, Yi-Kai Hong, Yi-Kai Hong, Wilson Jr F. Aala, Wei-Ting Tu, Meng-Che Tsai, Yen-Yin Chou, Chao-Kai Hsu, Chao-Kai Hsu, Chao-Kai Hsu   +15 more
doaj   +1 more source

Novel +90G>A Intronic Polymorphism of CYP2D6 [PDF]

Cell Journal, 2015
Objective: CYP2D6, an enzyme, metabolizes a large number of commonly prescribed drugs. Variations in CYP2D6 gene encoding this enzyme have been associated with individual differences in drug metabolism rates.
Monir Modaresi-nejad, Marzieh Shiva, Parvaneh Afsharian   +2 more
doaj  

A novel compound heterozygous variant in ALPK3 induced hypertrophic cardiomyopathy: a case report

Frontiers in Cardiovascular Medicine, 2023
BackgroundMalignant hypertrophic cardiomyopathy (HCM) phenotypes have potential risks of severe heart failure, fatal arrhythmia, and sudden cardiac death. Therefore, it is critical to predict the clinical outcomes of these patients.
Tiange Li, Tiange Li, Yuxi Jin, Rui Liu, Rui Liu, Yimin Hua, Kaiyu Zhou, Shuhua Luo, Yifei Li, Donghui Zhang   +9 more
doaj   +1 more source

Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel CTCF variants

Frontiers in Pediatrics, 2023
CCCTC-Binding Factor (CTCF) is a protein-coding gene involved in transcriptional regulation, insulator activity, and regulation of chromatin structure, and is closely associated with intellectual developmental disorders.
Bo Tan, Sihan Liu, Xiaoshu Feng, Xin Pan, Guanhua Qian, Li Liu, Xu Zhang, Hong Yao, Xiaojing Dong   +8 more
doaj   +1 more source

SLC35A2-CDG: Novel variant and review

Molecular Genetics and Metabolism Reports, 2021
SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a predominant feature.
Quelhas, Dulce, Correia, Joana, Jaeken, Jaak, Azevedo, Luisa, Lopes-Marques, Monica, Bandeira, Anabela, Keldermans, Liesbeth, Matthijs, Gert, Sturiale, Luisa, Martins, Esmeralda   +9 more
openaire   +7 more sources

A novel variant in GLIS3 is associated with osteoarthritis [PDF]

Annals of the Rheumatic Diseases, 2018
Osteoarthritis (OA) is a complex disease, but its genetic aetiology remains poorly characterised. To identify novel susceptibility loci for OA, we carried out a genome-wide association study (GWAS) in individuals from the largest UK-based OA collections to date.We carried out a discovery GWAS in 5414 OA individuals with knee and/or hip total joint ...
Elisabetta Casalone, Ioanna Tachmazidou, Eleni Zengini, Konstantinos Hatzikotoulas, Sophie Hackinger, Daniel Suveges, Julia Steinberg, Nigel William Rayner, arcOGEN Consortium, Jeremy Mark Wilkinson, Kalliope Panoutsopoulou, Eleftheria Zeggini   +11 more
openaire   +4 more sources

Case Report: Successful Management of a 29-Day-Old Infant With Severe Hyperlipidemia From a Novel Homozygous Variant of GPIHBP1 Gene

Frontiers in Pediatrics, 2022
BackgroundSevere hyperlipidemia is characterized by markedly elevated blood triglyceride levels and severe early-onset cardiovascular diseases, pancreatitis, pancreatic necrosis or persistent multiple organ failure if left untreated.
Shu Liu, Zhiqing Wang, Xianhua Zheng, Ye Zhang, Sisi Wei, Haimei OuYang, Jinqun Liang, Nuan Chen, Weihong Zeng, Jianhui Jiang   +9 more
doaj   +1 more source

Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening

Molecular Genetics & Genomic Medicine, 2020
Background In Japan, newborn and high‐risk screening for Fabry disease (FD), an inherited X‐linked disorder caused by GLA mutations, using dried blood spots was initiated in 2006. In newborn screening, 599,711 newborns were screened by December 2018, and
Takaaki Sawada, Jun Kido, Keishin Sugawara, Shirou Matsumoto, Fumio Takada, Kazuya Tsuboi, Akira Ohtake, Fumio Endo, Kimitoshi Nakamura   +8 more
doaj   +1 more source