Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Mihaela Pupavac"'
Autor:
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David Tregouët, Benjamin A Raby, Wendy K. Chung, Pierre-Emmanuel Morange, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Can Ficicioglu, Virginie Marchand, Yuri Motorin, Chrystèle Bonnemains, François Feillet, Jacek Majewski, David S. Rosenblatt
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Inborn errors of vitamin B12 metabolism of the cblC class are caused by mutations in the MMACHC gene. Here, Guéant et al. report epi-cblC, a class of cblC in which patients are compound heterozygous for a genetic mutation and a secondary epimutation
Externí odkaz:
https://doaj.org/article/cbd6be2fd8e245cb84a21aa02a029651
Publikováno v:
Journal of Taibah University Medical Sciences, Vol 12, Iss 3, Pp 194-198 (2017)
في السنوات العديدة الماضية، شرعت الاتحادات للأمراض النادرة في استهداف اكتشاف الجينات المسببة للأمراض في الأمراض المندلية، باستخدام أسا
Externí odkaz:
https://doaj.org/article/a23427b9af504658be515e04718d4776
Autor:
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David Tregouët, Benjamin A Raby, Wendy K. Chung, Pierre-Emmanuel Morange, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Can Ficicioglu, Virginie Marchand, Yuri Motorin, Chrystèle Bonnemains, François Feillet, Jacek Majewski, David S. Rosenblatt
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-1 (2018)
The original version of this Article contained an error in the title, which was incorrectly given as 'APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients'. This has now been corrected in both the PDF and HTML versions of the A
Externí odkaz:
https://doaj.org/article/3783968287494c3eab68abe2d97288a6
Autor:
Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant, Céline Chéry, Pierre Rouyer, Catia Cavicchi, Renzo Guerrini, Pierre-Emmanuel Morange, David Trégouët, Mihaela Pupavac, David Watkins, Tomi Pastinen, Wendy K. Chung, Can Ficicioglu, François Feillet, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Jacek Majewski, Amelia Morrone, David S. Rosenblatt, Jean-Louis Guéant
Publikováno v:
Clinical Epigenetics
Clinical Epigenetics, 2022, 14 (1), pp.52. ⟨10.1186/s13148-022-01271-1⟩
Clinical Epigenetics, 2022, 14 (1), pp.52. ⟨10.1186/s13148-022-01271-1⟩
Background epi-cblC is a recently discovered inherited disorder of intracellular vitamin B12 metabolism associating hematological, neurological, and cardiometabolic outcomes. It is produced by an epimutation at the promoter common to CCDC163P and MMA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6386fb5b3d9ff891e941b0744d967396
https://hal.univ-lorraine.fr/hal-03664165/document
https://hal.univ-lorraine.fr/hal-03664165/document
Autor:
Abderrahim, Oussalah, Youssef, Siblini, Sébastien, Hergalant, Céline, Chéry, Pierre, Rouyer, Catia, Cavicchi, Renzo, Guerrini, Pierre-Emmanuel, Morange, David, Trégouët, Mihaela, Pupavac, David, Watkins, Tomi, Pastinen, Wendy K, Chung, Can, Ficicioglu, François, Feillet, D Sean, Froese, Matthias R, Baumgartner, Jean-François, Benoist, Jacek, Majewski, Amelia, Morrone, David S, Rosenblatt, Jean-Louis, Guéant
Publikováno v:
Clinical epigenetics. 14(1)
epi-cblC is a recently discovered inherited disorder of intracellular vitamin BWe unraveled the methylome architecture of the CCDC163P-MMACHC CpG island (CpG:33) and the TESK2 CpG island (CpG:51) of 17 epi-cblC cases. We performed an integrative anal
Autor:
David Watkins, Abigail Watson, Hung-Chun Yu, Tomi Pastinen, Anita M. Quintana, Warren A. Cheung, Shu-Huang Chen, Mihaela Pupavac, Victoria L. Castro, Flemming Skovby, Elizabeth A. Geiger, Alison Brebner, Tamim H. Shaikh, Bruce Appel, David S. Rosenblatt
Publikováno v:
Human Molecular Genetics. 26:2838-2849
CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin (vitamin B12) metabolism and other developmental defects. Mutations in HCFC1, a transcriptional co-regulator which interacts with multiple transcription factors,
Autor:
Warren A. Cheung, Mihaela Pupavac, David S. Rosenblatt, Anne-Claude Gingras, Francis Petrella, Tomi Pastinen, Joseph Muenzer, Eric A. Shoubridge, Jacek Majewski, David Watkins, Alexandre Janer, Somayyeh Fahiminiya
Publikováno v:
Human Mutation. 37:976-982
Vitamin B12 (cobalamin, Cbl) cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) are required for the activity of the enzymes methylmalonyl-CoA mutase (MCM) and methionine synthase (MS). Inborn errors of Cbl metabolism are rare Mendelian
Autor:
Tracy Wang, Chantal Séguin, Mihaela Pupavac, Jacek Majewski, Wayne Mah, Kwangseok Hong, David S. Rosenblatt, Laura Russell, Colin Chalk, Bouziane Azeddine, Swapnil K. Sonkusare, Mark T. Nelson, Jian Carrot-Zhang, Edward J. Harvey
Publikováno v:
Mah, W, Sonkusare, S K, Wang, T, Azeddine, B, Pupavac, M, Carrot-Zhang, J, Hong, K, Majewski, J, Harvey, E J, Russell, L, Chalk, C, Rosenblatt, D S, Nelson, M T & Séguin, C 2016, ' Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2016-103829
Journal of Medical Genetics
Journal of Medical Genetics
Background Osteonecrosis of the femoral head is a debilitating disease that involves impaired blood supply to the femoral head and leads to femoral head collapse. Methods We use whole-exome sequencing and Sanger sequencing to analyse a family with in
Autor:
François Feillet, Matthias R. Baumgartner, Justine Flayac, Jacek Majewski, Yuri Motorin, Mihaela Pupavac, Fadi Hariri, Abderrahim Oussalah, Pierre-Emmanuel Morange, Tomi Pastinen, Alexandre Montpetit, David S. Rosenblatt, Jean-François Benoist, Benjamin A. Raby, D. Sean Froese, Chrystèle Bonnemains, Aurélie Robert, Thomas Josse, Wendy K. Chung, Javad Nadaf, Jean-Louis Guéant, Alison Brebner, Can Ficicioglu, Isabelle Koscinski, David Watkins, Céline Chéry, I Gastin, Pierre Filhine-Tresarrieu, David Coelho, Virginie Marchand, David-Alexandre Trégouët
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-1 (2018)
Nature Communications
Nature Communications
The original version of this Article contained an error in the title, which was incorrectly given as 'APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients'. This has now been corrected in both the PDF and HTML versions of the A
Autor:
Barry P. Rosen, Marina Wang, Christine Elser, Mihaela Pupavac, Amy Finch, Alexa Fine, Martin C. Chang, Kelly A. Metcalfe, George S. Charames, Steven A. Narod, Andrea Eisen, Jordan Lerner-Ellis, Leila Atri, Sam Khalouei
Publikováno v:
Clinical Genetics. 89:304-311
In 2001, genetic testing for BRCA1 and BRCA2 was introduced in Ontario, for women at high-risk of breast or ovarian cancer. To date over 30,000 individuals have been tested throughout Ontario. Testing was offered to all Ontario residents who were eli