Results 81 to 90 of about 758,578 (355)

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Functional analysis of CcDREB1D promoter region from haplotypes of Coffea canephora through genetic transformation of Nicotiana tabacum [PDF]

, 2014
Recent studies in coffee resulted in the identification of many candidate genes for drought tolerance characterized by differential expression profiles in leaves of drought-tolerant and susceptible clones of Coffea canephora Conilon.
Alves, Gabriel Sergio Costa, Andrade, Alan Carvalho, Aquino, Sinara O., Carneiro, Fernanda A, Duarte, Karoline Estefani, Marraccini, Pierre, Rego, Erica C.S.   +6 more
core  

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

The association of gene polymorphisms with peri-implant mucositis and peri-implantitis: A systematic review and meta-analysis [PDF]

Journal of Advanced Periodontology and Implant Dentistry
Background. The current study aimed to systematically review the existing evidence on potential links between gene polymorphisms and the occurrence of peri-implant mucositis (PIM) or peri-implantitis (PI). Methods.
Soheil Shahbazi, Saharnaz Esmaeili, Anahita Moscowchi, Reza Amid, Mahdi Kadkhodazadeh   +4 more
doaj   +1 more source

Evidence of uneven selective pressure on different subsets of the conserved human genome : implications for the significance of intronic and intergenic DNA [PDF]

, 2009
Peer reviewedPublisher ...
Davidson, Scott, MacKenzie, Alasdair, Starkey, Andrew   +2 more
core   +4 more sources

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

Metabolism and gene polymorphisms of the folate pathway in Brazilian women with history of recurrent abortion [PDF]

Revista Brasileira de Ginecologia e Obstetrícia, 2015
PURPOSE: To investigate the association between polymorphisms in genes that encode enzymes involved in folate- and vitamin B12-dependent homocysteine metabolism and recurrent spontaneous abortion (RSA).METHODS: We investigated the C677T and A1298C ...
Wendell Vilas Boas, Rozana Oliveira Gonçalves, Olívia Lúcia Nunes Costa, Marilda Souza Goncalves   +3 more
doaj   +2 more sources

Evidence of widespread degradation of gene control regions in hominid genomes [PDF]

, 2005
Although sequences containing regulatory elements located close to protein-coding genes are often only weakly conserved during evolution, comparisons of rodent genomes have implied that these sequences are subject to some selective constraints ...
Eyre-Walker, Adam, Keightley, Peter D, Lercher, Martin J   +2 more
core   +3 more sources

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

Correlation of gene polymorphisms of vascular endothelial growth factor with grade and prognosis of lung cancer

BMC Medical Genetics, 2020
Background Vascular endothelial growth factor (VEGF) gene is highly polymorphic, and single nucleotide polymorphisms (SNP) of VEGF gene are associate with cancer prognosis. This study aimed to analyze the correlation of VEGF gene polymorphisms with grade
Changjiang Liu, Xuetao Zhou, Zefeng Zhang, Yang Guo   +3 more
doaj   +1 more source