Results 41 to 50 of about 258,128 (359)

A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

BMC Medical Genetics, 2018
Background Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH patients.
Yiming Lin, Zhenzhu Zheng, Wenjia Sun, Qingliu Fu   +3 more
doaj   +1 more source

Risk factors for sensorineural hearing loss among high-risk infants in Golestan province, Iran in 2010 - 2011 [PDF]

, 2015
Background: Hearing impairment, as one of the most common birth defects, is a hidden disability with negative impacts on speech and cognitive development. Objectives: The aim of this study was to assess the prevalence of sensorineural hearing loss (SNHL)
Alaee, E., Fouladinejad, M., Sirati, M., Taziki, M.H.   +3 more
core   +2 more sources

Examining the potential for porcine-derived islet cells to harbour viral pathogens [PDF]

, 2018
With an onus on safety in the potential use of porcine islet cells as a treatment for diabetes, the use of animals lacking exogenous pathogens is clearly important and multilevel screening strategies have been presented on testing animals and the product.
Crossan, Claire, Gianello, Pierre, Mourad, Nizar, O'Hara, Zoe, Scobie, Linda   +4 more
core   +2 more sources

Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening

Frontiers in Genetics, 2019
Short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is an autosomal recessive disorder of impaired isoleucine catabolism caused by mutations in the ACADSB gene.
Yiming Lin, Hongzhi Gao, Chunmei Lin, Yanru Chen, Shuang Zhou, Weihua Lin, Zhenzhu Zheng, Xiaoqing Li, Min Li, Qingliu Fu   +9 more
doaj   +1 more source

The critical role of DNA damage‐inducible transcript 4 (DDIT4) in stemness character of leukemia cells and leukemia initiation

Molecular Oncology, EarlyView.
Stemness properties, including quiescence, self‐renewal, and chemoresistance, are closely associated with leukemia relapse. Here, we demonstrate that DNA damage‐inducible transcript 4 (DDIT4) is induced in the hypoxic bone marrow niche and is essential for maintaining the stemness of AML1‐ETO9a leukemia cells.
Yishuang Li, Zhijie Cao, Haiyan Xing, Zhenya Xue, Wenbing Liu, Jiayuan Chen, Yihan Mei, Runxia Gu, Hui Wei, Shaowei Qiu, Min Wang, Qing Rao, Jianxiang Wang   +12 more
wiley   +1 more source

Genetic regulation of spermine oxidase activity and cancer risk: a Mendelian randomization study

Scientific Reports, 2021
Spermine oxidase (SMOX) catalyzes the oxidation of spermine to spermidine. Observational studies have reported SMOX as a source of reactive oxygen species associated with cancer, implying that inhibition of SMOX could be a target for chemoprevention ...
João Fadista, Victor Yakimov, Urmo Võsa, Christine S. Hansen, Silva Kasela, Line Skotte, Frank Geller, Julie Courraud, Tõnu Esko, Viktorija Kukuškina, Alfonso Buil, Mads Melbye, Thomas M. Werge, David M. Hougaard, Lili Milani, Jonas Bybjerg-Grauholm, Arieh S. Cohen, Bjarke Feenstra   +17 more
doaj   +1 more source

A five year outbreak of methicillin-susceptible Staphylococcus aureus phage type 53,85 in a regional neonatal unit [PDF]

, 2000
We identified a 5-year outbreak of a methicillin-susceptible Staphylococcus aureus (MSSA) strain, affecting 202 babies on a neonatal unit, by routine weekly phage typing all S. aureus isolates.
Denton, M., Fitzgerald, P., Freeman, J., Gill, A.B., Haspinall, L., Hawkey, P., Hoy, C., Parnell, P., Porter, C., Wilcox, M.H.   +9 more
core   +2 more sources

Blocking the voltage‐gated sodium channel hNav1.5 as a novel pH‐dependent mechanism of action for tamoxifen

FEBS Open Bio, EarlyView.
Patch‐clamp recordings revealed that tamoxifen inhibits voltage‐gated sodium channels, especially under acidic conditions, both common in metastatic cancer cells. These effects may explain certain antitumor properties of tamoxifen, highlighting a novel mechanism of action beyond its known endocrine effects.
Karl Josef Föhr, Michael Fauler, Thomas Zimmer, Bettina Jungwirth, Hubert Schrezenmeier, David Alexander Christian Messerer   +5 more
wiley   +1 more source

The Rapid and Sensitive Quantitative Determination of Galactose by Combined Enzymatic and Colorimetric Method: Application in Neonatal Screening [PDF]

, 2016
The quantitative measurement of galactose in blood is essential for the early diagnosis, treatment, and dietary monitoring of galactosemia patients. In this communication, we aimed to develop a rapid, sensitive, and cost-effective combined method for ...
Ansari, J., Kianmehr, A., Mahrooz, A., Oladnabi, M., Shahbazmohammadi, H.   +4 more
core   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source