Results 91 to 100 of about 758,578 (355)

Inter-individual variation in nucleotide excision repair in young adults: effects of age, adiposity, micronutrient supplementation and genotype [PDF]

, 2009
Nucleotide excision repair (NER) is responsible for repairing bulky helix-distorting DNA lesions and is essential for the maintenance of genomic integrity.
Alison Spiers, Ann K. Daly, Brian Burtle, Elizabeth A. Williams, Fiona Caple, Gaivão, John C. Mathers, John E. Hesketh, John Tyson, Qiao, Tomasetti, Wei   +11 more
core   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro, María Victoria Zelaya, Hasier Eraña, Javier Sánchez Ruiz de Gordoa, Fermín García‐Amigot, Anika Simonovska‐Serra, María Cristina Caballero, Isidre Ferrer, Ellen Gelpi, Ivonne Jericó, Joaquín Castilla   +10 more
wiley   +1 more source

Helicobacter pylori and Epstein-Barr virus infection in gastric diseases: Correlation with IL-10 and IL1RN polymorphism. [PDF]

, 2019
Introduction: Helicobacter pylori and Epstein-Barr virus (EBV) infection have recently 23 been shown to be associated with gastric diseases. Polymorphisms in genes encoding 24 cytokines such as interleukin 10 (IL-10) and interleukin 1 Receptor (IL-1RN ...
Anna Giammanco, Cannella, Sara, Cesare Gagliardi, Chiara Mascarella, Dario Lipari, Giuseppina Capra, Letizia Scola, Nicola Serra, Paola Di Carlo, SCIORTINO, MIRIAM, SIMONTE, MARIA ROSA, Teresa Fasciana   +11 more
core   +1 more source

Neuroinflammation in GAD65 Antibody‐Associated Epilepsy Measured Using [18F]DPA‐714 PET/MRI

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The timing for initiating immunotherapy in patients with glutamic acid decarboxylase 65 (GAD65) antibody‐associated epilepsy is a challenge. We used the translocator protein radioligand [18F]DPA‐714 and PET to evaluate brain microglial activation.
Jingjing Chen, Yuying Zhang, Heyu Zhang, Jinming Zhang, Ningning Wang, Xintong Guo, Yicong Liu, Yue Liu, Xiangsong Zhang, Ziyi Chen, Guanzhong Ni   +10 more
wiley   +1 more source

Gene polymorphisms as markers of disease susceptibility [PDF]

Journal of Medical Biochemistry, 2010
The most widespread diseases of modern man have a polygenic basis, including genetic predisposition and factors in the external environment. Such is the case with cardiovascular disease, malignancy, diabetes and so on.
Novaković Ivana, Maksimović Nela, Cvetković Slobodan, Cvetković Dragana   +3 more
doaj  

Response to Allopurinol and Febuxostat According to the Fractional Excretion of Urate in Men With Gout

Arthritis Care &Research, EarlyView.
Objective Body mass index (BMI), glomerular filtration rate (GFR), and pretreatment urate levels have been reported to influence the urate‐lowering response to allopurinol. We investigated whether the fractional excretion of uric acid (FEUA) also modulates this response and relates to oxypurinol concentrations.
Pascal Richette, Anouk Walter‐Petrich, Quang Dinh Nguyen, Matthieu Resche‐Rigon, Quang Huy Dinh Nguyen, Minh Duc Do, Thao Phuong Mai, Tuan Duc Nguyen, Fernando Perez‐Ruiz, Emmanuel Letavernier, Tristan Pascart, Augustin Latourte, Hang Korng Ea, Thomas Bardin   +13 more
wiley   +1 more source

Interleukin-1β-gene polymorphisms in preeclamptic Egyptian women

Middle East Fertility Society Journal, 2017
Aim of work: To investigate the relationship between IL-1β -31C/T (rs 1143627) and -11T/C (rs 16944) gene polymorphisms and preeclampsia. Patients and methods: Polymorphisms at -31C/T and -511T/C of IL-1β were genotyped using polymerase chain reaction ...
Aml S. Nasr, Hoda M. El Azizy, Sahar Hassan, Hedayat Salem, Nehal Diaa   +4 more
doaj   +1 more source

Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in Cypriot population. [PDF]

, 2010
Inability to correctly repair DNA damage is known to play a role in the development of breast cancer. Single nucleotide polymorphisms (SNPs) of DNA repair genes have been identified, which modify the DNA repair capacity, which in turn may affect the risk
Bashiardes, E, Cariolou, MA, Daniel, M, Hadjisavvas, A, Kakouri, E, Loizidou, MA, Marcou, Y, Michael, T, Neuhausen, SL, Newbold, RF   +9 more
core  

Genetic variants and the metabolic syndrome: a systematic review [PDF]

, 2011
Several candidate gene studies on the metabolic syndrome (MetS) have been conducted. However, for most single nucleotide polymorphisms (SNPs) no systematic review on their association with MetS exists.
Boer, J.M., Feskens, E.J.M., Povel, C.M.
core   +3 more sources