Results 71 to 80 of about 649,904 (288)

Genetic Polymorphism

, 2017
The human DNA is exposed to a number of changes, these changes are frequently carried out in one or few nucleotides called mutations, which can be caused by errors in the mechanisms of DNA replication and repair as well as by environmental factors; and these mutations can have deleterious effects and cause disease.
openaire   +2 more sources

Role of tumour necrosis factor gene polymorphisms (-308 and -238) in breast cancer susceptibility and severity [PDF]

, 2004
Introduction Genetic polymorphisms in the promoter region of the tumour necrosis factor (TNF) gene can regulate gene expression and have been associated with inflammatory and malignant conditions. We have investigated two polymorphisms in the promoter
Azmy, I.A.F., Balasubramanian, S.P., Brown, N.J., Cox, A., Reed, M.W.R., Stephenson, T.J., Wilson, A.G.   +6 more
core   +2 more sources

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

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

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 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  

Current evidence for a modulation of low back pain by human genetic variants [PDF]

, 2009
The manifestation of chronic back pain depends on structural, psychosocial, occupational and genetic influences. Heritability estimates for back pain range from 30% to 45%. Genetic influences are caused by genes affecting intervertebral disc degeneration
Aberle, Agarwal, Agrawal, Aladin, Anderson, Andersson, Annunen, Arnold, Ashford, Atkinson, Bandell, Battie, Battie, Bautista, Bejaoui, Berthele, Beyer, Blau, Bond, Brown, Brown, Brown, Campa, Caraco, Carbonell Sala, Carragee, Cascorbi, Cho, Chou, Chou, Cipollone, Collart, Cox, Dalen, Daly, Dawkins, Dayer, Dayer, Diatchenko, Diatchenko, Diatchenko, Dick, Doehring, Eckhardt, Einarsdottir, Fillingim, Foulkes, Fu, Gasche, Goldberg, Grant, Gross, Gursoy, Gutierrez-Roelens, Hamdani, Hartvigsen, Hayashida, Hernandez, Higashino, Hirose, Hoyland, Hummel, Hustmyer, Ikeda, Indo, Irmgard Tegeder, Jayamanne, Jim, Jörn Lötsch, Kales, Kalichman, Karppinen, Karsak, Kawaguchi, Kawaguchi, Kawasaki, Khoromi, Kim, Kim, Kim, Kim, Kirchheiner, Kirchheiner, Klepstad, Knoeringer, Kroslak, Kuisma, Kung, Lafreniere, Landau, Langdahl, Le Maitre, Lee, Lettre, Leyne, Lichtman, Liem, Lorenzo, Lotsch, Lotsch, Lotsch, Lotsch, Lotsch, Lotsch, Lovlie, Lu, Luoma, Lötsch, MacDonald, Macpherson, Madadi, Manning, McNamara, Meeus, Meller, Meller, Mignat, Mio, Miura, Mogil, Mogil, Morrison, Nguyen, Noponen-Hietala, Noponen-Hietala, Oakley, Oertel, Oertel, Oertel, Ofek, Ohtori, Oliveira, Paassilta, Papafili, Pilotto, Pluijm, Poulsen, Racz, Racz, Rakvag, Ralston, Ralston, Reyes-Gibby, Richards, Riviere, Roddier, Romberg, Russo, Sachse, Sakai, Schmidt, Schneider, Seki, Seki, Sindrup, Sipe, Skarke, Skarke, Slade, Slaugenhaupt, Solovieva, Solovieva, Solovieva, Solovieva, Solovieva, Srinivasan, Srinivasan, Stamer, Stamer, Steward, Stohler, Suzuki, Svendsen, Tadic, Takahashi, Tam, Tander, Tegeder, Tegeder, Thieme, Thomas, Trevisani, Uitterlinden, Ujike, van Meurs, Vargas-Alarcon, Verhoeven, Videman, Videman, Virtanen, Voronov, Vree, Wiesinger, Yamada, Yazdanpanah, Zhang, Zhang, Zhang, Zhang, Zubieta, Zuo   +200 more
core   +1 more source

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

Flavin-containing monooxygenases: mutations, disease and drug response [PDF]

, 2008
NOTICE: this is the author’s version of a work that was accepted for publication in Trends in Pharmacological Sciences. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality ...
Phillips, IR, Shephard, EA
core   +1 more source

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