Results 21 to 30 of about 460,117 (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

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  

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

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

A NovelSHOC2Variant in Rasopathy [PDF]

Human Mutation, 2014
Rasopathies are a group of genetic disorders caused by germline mutations in multiple genes of the Extracellular signal-Regulated Kinases 1 and 2 (ERK1/2) pathway. The only previously identified missense mutation in SHOC2, a scaffold protein of the ERK1/2 pathway, led to Noonan-like syndrome with loose anagen hair.
Vickie, Hannig, Myoungkun, Jeoung, Eun Ryoung, Jang, John A, Phillips, Emilia, Galperin   +4 more
openaire   +2 more sources

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

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

Case Report: Aplastic anemia related to a novel CTLA4 variant

Frontiers in Pediatrics
A 20-year-old male patient with a history of celiac disease came to medical attention after developing profound fatigue and pancytopenia. Evaluation demonstrated pan-hypogammaglobulinemia. There was no history of significant clinical infections.
Geoffrey Hall, Janet G. Markle, James Maiarana, Paul L. Martin, Jennifer A. Rothman, John W. Sleasman, Howard Lederman, Antoine E. Azar, Robert A. Brodsky, Talal Mousallem   +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