Results 61 to 70 of about 667,182 (291)

Polimorfismos de la región promotora del gen de la IL-10 y artritis reumatoide en una población colombiana

Biomédica: revista del Instituto Nacional de Salud, 2007
Introducción. La artritis reumatoide es una enfermedad inflamatoria con un predominio de la actividad de las células TH1 CD4+. La interleucina-10, presente en altas concentraciones en suero y líquido sinovial de pacientes con artritis reumatoide, tiene ...
Olga María Moreno, Clara Isabel González, Diego Luis Saaibi, William Otero, Reynaldo Badillo, Javier Martín, Gerardo Ramírez   +6 more
doaj   +1 more source

Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects. [PDF]

, 2014
BackgroundNeural tube defects (NTDs), which are among the most common congenital malformations, are influenced by environmental and genetic factors. Low maternal folate is the strongest known contributing factor, making variants in genes in the folate ...
Abaan, Hatice Ozel, Brody, Lawrence C, Browne, Marilyn L, Caggana, Michele, Kay, Denise M, Kirke, Peadar N, McGrath, Emily C, Mills, James L, Molloy, Anne M, Pangilinan, Faith, Parle-McDermott, Anne, Scott, John M, Shane, Barry, Sutton, Marie, Troendle, James F   +14 more
core   +3 more sources

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

Niveles de homocisteína y polimorfismos de los genes de la MTHFR y la CBS en pacientes colombianos con trombosis venosa superficial y profunda

Biomédica: revista del Instituto Nacional de Salud, 2010
Introducción. Se produce trombosis cuando en el sistema hemostático se desequilibran los mecanismos procoagulantes, anticoagulantes y fibrinolíticos, y se forman coágulos dentro de los vasos sanguíneos.
Claudia Ayala, Reggie García, Edith Cruz, Karol Prieto, Marta Bermúdez   +4 more
doaj   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

O polimorfismo AGT*M235T na disfunção cardíaca de etiologia isquêmica aguda: projeto gisca AGT*M235T polymorphism in acute ischemic cardiac dysfunction: the gisca project

Arquivos Brasileiros de Cardiologia, 2010
FUNDAMENTO: O polimorfismo AGT*M235T tem sido associado a elevados níveis séricos de angiotensinogênio (AGT), hipertensão arterial sistêmica e disfunção cardíaca (DC). OBJETIVO: Testar a hipótese de haver associação entre polimorfismo AGT*M235T e o risco
Claudia Guerra Murad Saud, Amália Faria dos Reis, Arlisa Monteiro de Castro Dias, Rosemery Nunes Cardoso, Ana Cristina Klem Vargas Carneiro, Leandro Pereira de Souza, Ana Beatriz Monteiro Fonseca, Georgina Severo Ribeiro, Carlos Augusto Cardozo de Faria   +8 more
doaj  

Association of GPX1 Pro198Leu and SOD1 A251G polymorphisms with risk of acute kidney rejection [PDF]

Scripta Medica
Background/Aim: Acute rejection is one factor threatening the success of kidney transplantation. One of the factors that can cause graft rejection is oxidative stress.
Rayatpisheh Shima, Karimi Mohammad-Hossein, Saadat Iraj   +2 more
doaj   +1 more source

The potential role of genetic markers in talent identification and athlete assessment in elite sport [PDF]

, 2018
In elite sporting codes, the identification and promotion of future athletes into specialized talent pathways is heavily reliant upon objective physical, technical, and tactical characteristics, in addition to subjective coach assessments.
Anderton, Ryan S, Hart, Nicolas H, Jacob, Ysabel, Spiteri, Tania   +3 more
core   +2 more sources

Molecular dynamics simulations of positively selected codons in FcγRI reveal novel biochemical binding properties

FEBS Open Bio, EarlyView.
Evolutionary analysis across 32 placental mammals identified positive selection at residues H148 and W149 in the immune receptor FcγR1. Ancestral reconstruction combined with molecular dynamics simulations reveals how these mutations may influence receptor structure and dynamics, providing insight into the evolution of antibody recognition and immune ...
David A. Young, Omar Arias‐Gaguancela, Fiona Gibson, Morgan Grainger, Jodie Score, Amit Nathubhai, Mauricio Cafiero, Lee Richard Machado   +7 more
wiley   +1 more source

Polimorfismos beta1-adrenérgico associados com Fibrilação Atrial na Insuficiência Cardíaca Sistólica Beta1-adrenergic receptor polymorphisms associated with atrial fibrillation in systolic heart failure

Arquivos Brasileiros de Cardiologia, 2012
FUNDAMENTO: O sistema nervoso simpático apresenta grande importância na patogênese da fibrilação atrial na insuficiência cardíaca sistólica. A identificação de polimorfismos no gene ADBR1 do receptor beta1-adrenérgico representa um importante passo no ...
Bruno Costa do Nascimento, Sabrina Bernardez Pereira, Georgina Severo Ribeiro, Evandro Tinoco Mesquita   +3 more
doaj