Results 71 to 80 of about 666,141 (292)

Are endocannabinoid type 1 receptor gene (CNR1) polymorphisms associated with obesity and metabolic syndrome in postmenopausal Polish women? [PDF]

, 2009
Objective: The aim of this study was to determine whether genetic variation at the cannabinoid receptor-1 (CNR1) locus could have an effect on adiposity, fat distribution and obesity-related metabolic disorders in Polish postmenopausal women.Design and ...
Andrzej Milewicz, Diana Jedrzejuk, Felicja Lwow, Katarzyna Dunajska, Lukasz Laczmanski, Urszula Tworowska-Bardzinska   +5 more
core   +1 more source

Recent and Ancient Signature of Balancing Selection around the S-Locus in Arabidopsis halleri and A. lyrata [PDF]

, 2012
Balancing selection can maintain different alleles over long evolutionary times. Beyond this direct effect on the molecular targets of selection, balancing selection is also expected to increase neutral polymorphism in linked genome regions, in inverse ...
Castric, Vincent, Charlesworth, Deborah, Pauwels, Maxime, Roux, Camille, Ruggiero, Maria-Valeria, Vekemans, Xavier   +5 more
core   +3 more sources

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Protective association of TNFSF15 polymorphisms with Crohn's disease and ulcerative colitis: A meta-analysis

The Saudi Journal of Gastroenterology, 2018
Background/Aims: Three extensively investigated polymorphisms (rs3810936, rs7848647, and rs6478108) in tumor necrosis factor super family member 15 (TNFSF15) gene have been implicated in risk for inflammatory bowel disease (IBD).
Liwen He, Jiamin Chen, Jiachen Sun, Junsheng Peng, Qing He   +4 more
doaj   +1 more source

The 763C>G Polymorphism of The Secretory PLA2IIa Gene Is Associated with Endometriosis in Iranian Women [PDF]

International Journal of Fertility and Sterility, 2015
Background Endometriosis is a chronic gynecological disease resulting from complex interactions between genetic, hormonal, environmental and oxidative stress and intrinsic inflammatory components.
Mehdi Sahmani, Masoud Darabi, Maryam Darabi, Talaat Dabaghi, Safar Ali Alizadeh, Reza Najafipour   +5 more
doaj   +1 more source

Predictability of IL-28B-polymorphism on protease-inhibitor-based triple-therapy in chronic HCV-genotype-1 patients: A meta-analysis

, 2014
AIM: To investigate the predictability of interleukin-28B single nucleotide polymorphism rs12979860 with respect to sustained virological response (SVR) in chronically hepatitis C virus (HCV) genotype-1 patients treated with a protease-inhibitor and ...
Amanzada, Ahmad, Cameron, Silke, Mechie, Nicolae-Catalin, Röver, Christian   +3 more
core   +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

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Association between Endothelial Selectin (E-selectin) gene polymorphisms and E-selectin level with visceral leishmaniais, in an ARMS-PCR based study [PDF]

, 2008
Background: In the visceral leishmaniasis (VL), parasites reside in reticuluendothelial system, mainly in macrophages. Endothelial Selectin (E-selectin) might play an important role in leukocyte-endothelium interactions and inflammatory cell recruitment.
Bazmani, A., Fallah, M., Hajilooi, M., Mazloumi Gavgani, A., Taherkhani, H.   +4 more
core  

SNP Assay Development for Linkage Map Construction, Anchoring Whole-Genome Sequence, and Other Genetic and Genomic Applications in Common Bean. [PDF]

, 2015
A total of 992,682 single-nucleotide polymorphisms (SNPs) was identified as ideal for Illumina Infinium II BeadChip design after sequencing a diverse set of 17 common bean (Phaseolus vulgaris L) varieties with the aid of next-generation sequencing ...
Cregan, Perry B, Hwang, Eun-Young, Hyten, David L, Jackson, Scott A, Jenkins, Jerry, Jia, Gaofeng, McClean, Phillip E, Osorno, Juan M, Schmutz, Jeremy, Schroeder, Steven G, Song, Qijian   +10 more
core   +1 more source