Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Roshan S Jahangir Tafrechi"'
Autor:
Anton K Raap, Roshan S Jahangir Tafrechi, Frans M van de Rijke, Angela Pyle, Carolina Wählby, Karoly Szuhai, Raimond B G Ravelli, René F M de Coo, Harsha K Rajasimha, Mats Nilsson, Patrick F Chinnery, David C Samuels, George M C Janssen
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e52080 (2012)
Many pathogenic mitochondrial DNA mutations are heteroplasmic, with a mixture of mutated and wild-type mtDNA present within individual cells. The severity and extent of the clinical phenotype is largely due to the distribution of mutated molecules be
Externí odkaz:
https://doaj.org/article/7159e41e8e794a30ab231bb6bbd37c83
Autor:
Willem C. R. Sloos, George M.C. Janssen, Carolina Wählby, Frans M. van de Rijke, Marchien van de Sande, Chatarina Larsson, Roshan S. Jahangir Tafrechi, Anton K. Raap, Amin Allallou
Publikováno v:
Journal of Histochemistry & Cytochemistry. 55:1159-1166
Segregation of mitochondrial DNA (mtDNA) is an important underlying pathogenic factor in mtDNA mutation accumulation in mitochondrial diseases and aging, but the molecular mechanisms of mtDNA segregation are elusive. Lack of high-throughput single-ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef41190d03bcadfc482ef5dc35a26a6c
https://doi.org/10.1369/jhc.7a7282.2007
https://doi.org/10.1369/jhc.7a7282.2007
Autor:
Karoly Szuhai, Anton K. Raap, Peter J. Svensson, George M.C. Janssen, J. Antonie Maassen, Roshan S. Jahangir Tafrechi
Publikováno v:
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 578:43-52
The pathobiochemical pathways determining the wide variability in phenotypic expression of mitochondrial DNA (mtDNA) mutations are not well understood. Most pathogenic mtDNA mutations induce a general defect in mitochondrial respiration and thereby A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b978f023690c5ae190dd046cd7d31d4
https://doi.org/10.1016/j.mrfmmm.2005.02.002
https://doi.org/10.1016/j.mrfmmm.2005.02.002
Autor:
R.J. Heine, Giel Nijpels, George M.C. Janssen, Leen M 't Hart, Roshan S. Jahangir Tafrechi, Herman H.P.J. Lemkes, Anton K. Raap, J. Antonie Maassen, Einar H R van Essen
Publikováno v:
Diabetes. 53:S103-S109
Mutations in mitochondrial DNA (mtDNA) associate with various disease states. A few mtDNA mutations strongly associate with diabetes, with the most common mutation being the A3243G mutation in the mitochondrial DNA-encoded tRNA(Leu,UUR) gene. This ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::60908cdc3fc502427cf920fde529bc6a
https://doi.org/10.2337/diabetes.53.2007.s103
https://doi.org/10.2337/diabetes.53.2007.s103
Autor:
David C. Samuels, Patrick F. Chinnery, George M.C. Janssen, Raimond B. G. Ravelli, Roshan S. Jahangir Tafrechi, René de Coo, Frans M. van de Rijke, Carolina Wählby, Mats Nilsson, Angela Pyle, Karoly Szuhai, Harsha Rajasimha, Anton K. Raap
Publikováno v:
PLoS ONE
PLoS ONE, Vol 7, Iss 12, p e52080 (2012)
PLoS ONE, 7(12)
PLoS ONE, Vol 7, Iss 12, p e52080 (2012)
PLoS ONE, 7(12)
Many pathogenic mitochondrial DNA mutations are heteroplasmic, with a mixture of mutated and wild-type mtDNA present within individual cells. The severity and extent of the clinical phenotype is largely due to the distribution of mutated molecules be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b14bf808922de514c5f90c4d244376
https://doi.org/10.1371/journal.pone.0052080
https://doi.org/10.1371/journal.pone.0052080
Autor:
Anton K. Raap, Herman H.P.J. Lemkes, George M.C. Janssen, Roshan S. Jahangir Tafrechi, Johannes A Maassen, Leen M 't Hart
Publikováno v:
Endocrinology and metabolism clinics of North America. 35(2)
The 3243A>G mutation in mitochondrial DNA (mtDNA) is a genetic variant that is associated with a high risk of developing diabetes during life. Enhanced aging of pancreatic beta-cells, a reduced capacity of these cells to synthesize large amounts of i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::958897b385019fb300fcccddb6772abf
https://pubmed.ncbi.nlm.nih.gov/16632100
https://pubmed.ncbi.nlm.nih.gov/16632100
Autor:
J Antonie, Maassen, Leen M, 'T Hart, Einar, Van Essen, Rob J, Heine, Giel, Nijpels, Roshan S, Jahangir Tafrechi, Anton K, Raap, George M C, Janssen, Herman H P J, Lemkes
Publikováno v:
Diabetes. 53
Mutations in mitochondrial DNA (mtDNA) associate with various disease states. A few mtDNA mutations strongly associate with diabetes, with the most common mutation being the A3243G mutation in the mitochondrial DNA-encoded tRNA(Leu,UUR) gene. This ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::99452bd799644eb121d69074765b5ddd
https://pubmed.ncbi.nlm.nih.gov/14749274
https://pubmed.ncbi.nlm.nih.gov/14749274