Results 101 to 110 of about 2,222,994 (259)

Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH

, 2002
Background & Aims: MUTYH-associated polyposis (MAP) is an autosomal recessive disorder caused by mutations in the MUTYH gene. Patients with MAP are at extremely high risk of colorectal cancer, but the risks of colorectal and other cancers in ...
Jones, Natalie, Maher, Eamonn, Sampson, Julian Roy, Edwards, Emma, Christian, Daria, Evans, D Gareth, Vasen, Hans F., Wark, Petra A., Sampson, Julian R, Eccles, Diana, Aretz, Stefan, Nielsen, Maartje, Maher, Eamonn R., Wark, Petra A, Vogt, Stefanie, Wark, Petra A.; id_orcid, Hes, Frederik J, Hes, Frederik J., Evans, D. Gareth, Sampson, Julian R., Vasen, Hans F, Maher, Eamonn R   +21 more
core   +1 more source

The bioenergetic status relates to dopamine neuron loss in familial PD with PINK1 mutations [PDF]

, 2012
Mutations in the PINK1 gene cause autosomal recessive familial Parkinson’s disease (PD). The gene encodes a mitochondrial protein kinase that plays an important role in maintaining mitochondrial function and integrity.
Johann Hagenah, Neumaier, Bernd, Roggendorf, J., Julia Roggendorf, Roggendorf, Julia, Johannes C Klein, Hattingen, E., Steinmetz, H., Hagenah, Johann, Hagenah, J., Klein, Johannes C., Eggers, C., Hilker, Rüediger, Klein, Christine, Hattingen, Elke, Klein, C., Fink, Gereon R., Pilatus, U., Ulrich Pilatus, Elke Hattingen, Bernd Neumaier, Klein, Johannes Christian, Baudrexel, S., Hilker, Rüdiger, Eggers, Carsten, Neumaier, B., Hagenah, Johann Meinert, Carsten Eggers, Klein, J., Helmuth Steinmetz, Fink, Gereon Rudolf, Steinmetz, Helmuth, Pilatus, Ulrich, Fink, G., Rüediger Hilker, Baudrexel, Simon, Gereon R Fink, Christine Klein, Hilker, R., Simon Baudrexel   +39 more
core   +1 more source

Les Relations Entre Les Européens Et Les Algériens Musulmans à Constantine (1837-1934)

Revue d'Histoire Méditerranéenne
En 1837, la ville de Constantine est prise par l’armée française après un siège meurtrier. La population allait subir les affres d’une colonisation dure. Une population européenne est installée dans la ville dans un quartier séparé des autochtones. Peu à
Derardja Aya, Ouatmani Settar
doaj  

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source

BRCA1 and BRCA2 mutations in a population-based study of male breast cancer [PDF]

, 2001
Background: The contribution of BRCA1 and BRCA2 to the incidence of male breast cancer (MBC) in the United Kingdom is not known, and the importance of these genes in the increased risk of female breast cancer associated with a family history of breast ...
Bruce AJ Ponder, Julian M Lipscombe, Joanna M Ward, Basham, VM, Easton, DF, Ward, JM, Ponder, BAJ, Victoria M Basham, Simon A Gayther, Paul DP Pharoah, Lipscombe, JM, Douglas F Easton, Pharoah, PDP, Gayther, SA   +13 more
core   +2 more sources

Introductory Paper: Cultures Under Negotiation: Discourse, Identity, And The Reconfiguration Of Meaning In Global Contexts

The Journal of Studies in Language, Culture and Society
This special issue brings together rich contributions that collectively interrogate the conditions under which cultures are produced, sustained, contested, and reconfigured in an increasingly mediated and interconnected world.
Philippe Viallon, Nadia Idri, Leila Hammoud   +2 more
doaj   +2 more sources

Emerging experimental and computational methods for studying redox‐regulated structural transitions

FEBS Letters, EarlyView.
Redox reactions can reshape proteins and alter how they behave in cells, with important consequences for health and disease. This review explores emerging experimental and computational approaches for discovering these redox‐sensitive protein switches, revealing their structural effects, and predicting their behavior, opening new opportunities to ...
Tasneem Rass, Dana Reichmann, Gábor Erdős   +2 more
wiley   +1 more source

EndoGene database: reported genetic variants for 5,926 Russian patients diagnosed with endocrine disorders

Frontiers in Endocrinology
IntroductionEndocrine system disorders are a serious public health burden and can be caused by deleterious genetic variants in single genes or by the combined effects of multiple variants along with environmental and lifestyle factors.MethodsThe EndoGene
Anton A. Buzdin, Anton A. Buzdin, Anton A. Buzdin, Anton A. Buzdin, Marianna A. Zolotovskaia, Marianna A. Zolotovskaia, Sergey A. Roumiantsev, Aleksandra G. Emelyanova, Aleksandra G. Emelyanova, Olga O. Golounina, Polina A. Pugacheva, Polina A. Pugacheva, Daniil V. Luppov, Daniil V. Luppov, Anastasia V. Kuzminyh, Arseniya O. Alexeeva, Arseniya O. Alexeeva, Anna A. Emelianova, Anna A. Emelianova, Alexey L. Novoselov, Alina Matrosova, Anastasia A. Slepukhina, Sergey V. Popov, Evgeniya V. Plaksina, Vasiliy M. Petrov, Anastasia R. Guselnikova, Anastasia D. Shagina, Maria V. Suntsova, Victoriya V. Zakharova, Zhanna E. Belaya, Maria V. Vorontsova, Maria V. Vorontsova, Galina A. Melnichenko, Natalia G. Mokrysheva, Vladimir P. Chekhonin, Ivan I. Dedov   +35 more
doaj   +1 more source

Synergistic perspectives—How single‐molecule biophysics complement biochemical understanding

FEBS Letters, EarlyView.
In this review, we discuss how ensemble biochemistry and single‐molecule approaches are complementary, outline commonly used single‐molecule techniques, and illustrate their relevance through two representative case studies: chromatin organization by SMC complexes and pathway choice during DNA double‐strand break repair.
Sara De Bragança, Eline L. Jansen, Jorine M. Eeftens   +2 more
wiley   +1 more source

Mutations at the Level of the Measures Adopted by Monetary Authorities [PDF]

Risk in Contemporary Economy, 2011
Following the intensification of the international financial crisis in autumn 2008 the functioning of the financial system was seriously hindered. Central banks around the world responded firmly by lowering their key interest rates to historically low ...
Marius Constantin APOSTOAIE, Stefan MATEI   +1 more
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