Results 81 to 90 of about 666,024 (276)

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Cytokine gene polymorphisms in preterm infants with necrotising enterocolitis: genetic association study [PDF]

, 2016
BACKGROUND The inflammatory cytokine cascade is implicated in the pathogenesis of necrotising enterocolitis (NEC). Genetic association studies of cytokine polymorphisms may help to detect molecular mechanisms that are causally related to the disease ...
Baier, R. J., Brocklehurst, P., Craig, S., Helps, N., Henderson, G., McGuire, W.   +5 more
core   +1 more source

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu, Leiyun Huang, Wan Zhu, Min Peng, Qiang Gong, Jing Qian   +5 more
wiley   +1 more source

Organellar inheritance in the green lineage: insights from Ostreococcus tauri [PDF]

, 2013
Along the green lineage (Chlorophyta and Streptophyta), mitochondria and chloroplast are mainly uniparentally transmitted and their evolution is thus clonal. The mode of organellar inheritance in their ancestor is less certain.
Adam Eyre-Walker, Baur, Birky, Bonen, Boynton, Bruen, Correns, De Clerck, Derelle, Duret, Grimsley, Guindon, Gwenael Piganeau, Hasegawa, Hill, Hill, Houliston, Hua, Huang, Hurst, Hutson, Jancek, Kurtz, Larkin, Lewis, Lewontin, Li, MacAlpine, Marin, Marshall, Maréchal, Maynard Smith, McVean, Miyamura, Muller, Nei, Ness, Olson, Piganeau, Posada, Posada, R Development Core Team, Robbens, Rodríguez-Ezpeleta, Romain Blanc-Mathieu, Sager, Sager, Sager, Simpson, Sophie Sanchez-Ferandin, Städler, Sun, Sung, Swofford, Tamura, Tamura, Tsai   +56 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

Coalescence 2.0: a multiple branching of recent theoretical developments and their applications [PDF]

, 2014
Population genetics theory has laid the foundations for genomics analyses including the recent burst in genome scans for selection and statistical inference of past demographic events in many prokaryote, animal and plant species.
Lemaire, Christophe, Tellier, Aurelien
core   +5 more sources

Development and External Validation of a Genetic Risk Score for Pain in Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Objective Several single‐nucleotide polymorphisms (SNPs) have been associated with chronic pain syndromes. Our objective was to determine whether genetic variants are associated with pain and disease activity in rheumatoid arthritis (RA). Methods Participants were included from two independent RA cohorts: FORWARD (National Databank for Rheumatic ...
Katie J. McMenamin, Thomas R. Riley IV, Kristin Wipfler, Kaleb Michaud, Austin Wheeler, Bryant R. England, Brian Sauer, Katherine D. Wysham, Rui Xiao, Michael March, Grant W. Cannon, Sylvanus Toikumo, Henry R. Kranzler, Rachel L. Kember, Ted R. Mikuls, Joshua F. Baker   +15 more
wiley   +1 more source

Replication and Meta-analysis of the Association between BDNF Val66Met Polymorphism and Cognitive Impairment in Patients Receiving Chemotherapy. [PDF]

, 2019
Cancer-related cognitive impairment (CRCI) adversely affects cancer patients. We had previously demonstrated that the BDNF Val66Met genetic polymorphism is associated with lower odds of subjective CRCI in the multitasking and verbal ability domains among
Beh, Sok Yuen, Chan, Alexandre, Chan, Jack Junjie, Chay, Wen Yee, Chu, Pat, Dent, Rebecca A, Foo, Koon Mian, Ho, Han Kiat, Jain, Amit, Khor, Chiea Chuen, Koo, Si-Lin, Lee, Guek Eng, Lim, Elaine H, Lim, Sheree Wan Ting, Loh, Kiley Wei-Jen, Ng, Raymond Chee Hui, Ng, Terence, Shwe, Maung, Tan, Chia Jie, Tan, Tira Jing Ying, Toh, Yi Long, Wong, Mabel, Yap, Yoon Sim, Yeo, Angie   +23 more
core   +1 more source

Response to allopurinol and febuxostat according to the fractional excretion of urate in men with gout

Arthritis Care &Research, Accepted Article.
Background 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 urate (FEUA) also modulates this response and relates to oxypurinol concentrations. We further evaluated its potential influence
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

The role of vitamin D and the VDR gene polymorphism in sepsis risk and mortality: a systematic review and meta-analysis [PDF]

Osong Public Health and Research Perspectives
Objectives Vitamin D regulates immune function, cell proliferation, and differentiation. Its deficiency is linked to sepsis, although the causal relationship remains unclear.
Wiwi Jaya, Sumarno Reto Prawiro, Hani Susianti, Aswoco Andyk Asmoro   +3 more
doaj   +1 more source