KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16

Autor: Enriko Klootwijk, Robert Kleta, Sarah Amin-Rasip, A Yvette Konijnenberg, Naomi Issler, Anselm A. Zdebik, Michiel J. S. Oosterveld, Sofia Hussain, Mandy G. Keijzer-Veen, Detlef Bockenhauer, Eva H. Brilstra, Stefano Guarino, Sophie Parrock, Nicholas Lench, Ann-Marie Differ, Hester van Wieringen, Simona Dumitriu, Nine V A M Knoers

Publikováno v: Nephron Physiology, 123(3-4), 7-14
Nephron. Physiology, 123(3-4), 7-14. S. Karger AG

Background/Aims: Mutations in the inwardly-rectifying K+-channel KCNJ10/Kir4.1 cause autosomal recessive EAST syndrome (epilepsy, ataxia, sensorineural deafness and tubulopathy). KCNJ10 is expressed in the distal convoluted tubule of the kidney, stri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cd385dad848a2ea0e88da8ba5da9cb5
https://doi.org/10.1159/000356353

Genetic polymorphism in the manganese superoxide dismutase gene is associated with an increased risk for hepatocellular carcinoma in HCV-infected Moroccan patients

Autor: M. Benazzouz, Rajae Afifi, Mohammed Hassar, Abdellah Essaid El Feydi, Abdelaziz Chafik, Soumaya Benjelloun, Pascal Pineau, Latifa El Kihal, Sayeh Ezzikouri

Publikováno v: Mutation Research-Genetic Toxicology and Environmental Mutagenesis
Mutation Research-Genetic Toxicology and Environmental Mutagenesis, 2008, 649 (1-2), pp.1-6. ⟨10.1016/j.mrgentox.2007.05.019⟩
Mutation Research-Genetic Toxicology and Environmental Mutagenesis, Elsevier, 2008, 649 (1-2), pp.1-6. ⟨10.1016/j.mrgentox.2007.05.019⟩

International audience; Hepatocellular carcinoma (HCC) ranks among the 10 most common cancers worldwide. The main risk factors for its development are hepatitis B and C virus infections. Hepatitis B and C viruses induce chronic inflammation and oxida

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53a7a6bb1ad11709f7c11d721af63edd
https://doi.org/10.1016/j.mrgentox.2007.05.019

Catechol-O-methyltransferase Val158Met polymorphism moderates anterior cingulate volume in posttraumatic stress disorder

Autor: Steven H. Woodward, Xiaoyan Lin, Stephan Eliez, Joachim Hallmayer, R. Jay Schulz-Heik, Marie Schaer, Danny G. Kaloupek

Publikováno v: Biological Psychiatry, Vol. 70, No 11 (2011) pp. 1091-6

Background Posttraumatic stress disorder (PTSD) is associated with structural and functional compromise of the anterior cingulate cortex (ACC), which may in turn be associated with impairment of its ability to regulate the amygdala. The Val158Met pol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdce5ff8598e0dd19341692aad4271a0
https://pubmed.ncbi.nlm.nih.gov/21783175

BDNF Val66Met Polymorphism Influences Motor System Function in the Human Brain

Autor: Steven C. Cramer, Vincent Procaccio, Paul Rodriguez, Jeffrey A. Kleim, Stephanie A. McHughen, Laura Marchal Crespo, Erin D. Kleim

Publikováno v: McHughen, S. A.; Rodriguez, P. F.; Kleim, J. A.; Kleim, E. D.; Marchal Crespo, Laura; Procaccio, V.; Cramer, S. C. (2010). BDNF Val66Met Polymorphism Influences Motor System Function in the Human Brain. Cerebral cortex, 20(5), pp. 1254-1262. Oxford University Press 10.1093/cercor/bhp189
McHughen, Stephanie A; Rodriguez, Paul F; Kleim, Jeffrey A; Kleim, Erin D; Marchal Crespo, Laura; Procaccio, Vincent; et al.(2010). BDNF val66met polymorphism influences motor system function in the human brain.. Cerebral cortex (New York, N.Y. : 1991), 20(5), 1254-1262. doi: 10.1093/cercor/bhp189. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/3wg6g781
Cerebral cortex (New York, N.Y. : 1991)
Cerebral cortex (New York, N.Y. : 1991), 2010, 20 (5), pp.1254-1262. ⟨10.1093/cercor/bhp189⟩

International audience; Brain-derived neurotrophic factor (BDNF) is important to brain functions such as plasticity and repair. A single nucleotide polymorphism for this growth factor, val(66)met, is common and associated with decreased activity-depe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e8ae97df5052f5dac90a0547270a0f2
https://europepmc.org/articles/PMC2852510/

Deviant trajectories of cortical maturation in 22q11.2 deletion syndrome (22q11DS): A cross-sectional and longitudinal study

Autor: Bronwyn Glaser, Stephan Eliez, Marie-Christine Ottet, Jean-Philippe Thiran, Marie Schaer, Meritxell Bach Cuadra, Martin Debbané

Publikováno v: Schizophrenia research
Schizophrenia Research, Vol. 115, No 2-3 (2009) pp. 182-190

22q11.2 deletion syndrome (22q11DS) is associated with an increased susceptibility to develop schizophrenia. Despite a large body of literature documenting abnormal brain structure in 22q11DS, cerebral changes associated with brain maturation in 22q1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2b38ce79178c1e4c8e925f3e820af44
https://infoscience.epfl.ch/record/148653