Zobrazeno 1 - 10
of 271
pro vyhledávání: '"David S, Rosenblatt"'
Autor:
Tiffany Chern, Annita Achilleos, Xuefei Tong, Matthew C. Hill, Alexander B. Saltzman, Lucas C. Reineke, Arindam Chaudhury, Swapan K. Dasgupta, Yushi Redhead, David Watkins, Joel R. Neilson, Perumal Thiagarajan, Jeremy B. A. Green, Anna Malovannaya, James F. Martin, David S. Rosenblatt, Ross A. Poché
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-21 (2022)
Combined methylmalonic acidemia (MMA) and hyperhomocysteinemias are inborn errors of vitamin B12 metabolism, and mutations in the transcriptional regulators HCFC1 and RONIN (THAP11) underlie some forms of these disorders. Here the authors generated m
Externí odkaz:
https://doaj.org/article/18e20d90d2e9439192ddff6d1fb4cef0
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:
Gabriela de Carvalho Nunes, Karl Grenier, Chelsea Maedler Kron, Thomas Kitzler, Janine El Helou, David S. Rosenblatt, François Olivier
Publikováno v:
Neuromuscular Disorders. 32:512-515
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a9ea2eeb9a3f85a51cf02e1be8fd52e4
https://doi.org/10.1016/j.nmd.2022.04.010
https://doi.org/10.1016/j.nmd.2022.04.010
Autor:
Jean-Louis Guéant, Youssef Siblini, Céline Chéry, Guillaume Schmitt, Rosa-Maria Guéant-Rodriguez, David Coelho, David Watkins, David S. Rosenblatt, Abderrahim Oussalah
Publikováno v:
Human Genetics. 141:1309-1325
Epigenetic diseases can be produced by a stable alteration, called an epimutation, in DNA methylation, in which epigenome alterations are directly involved in the underlying molecular mechanisms of the disease. This review focuses on the epigenetics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be63af2af9b40b746ab1c272782cf0ba
https://doi.org/10.1007/s00439-021-02414-9
https://doi.org/10.1007/s00439-021-02414-9
Autor:
Faith Pangilinan, David Watkins, David Bernard, Yue Chen, Ningzheng Dong, Qingyu Wu, Hatice Ozel‐Abaan, Manjit Kaur, Michele Caggana, Mark Morrissey, Marilyn L. Browne, James L. Mills, Carol Van Ryzin, Oleg Shchelochkov, Jennifer Sloan, Charles P. Venditti, Kyriakie Sarafoglou, David S. Rosenblatt, Denise M. Kay, Lawrence C. Brody
Publikováno v:
Am J Med Genet A
The biological and clinical significance of the p.E88del variant in the transcobalamin receptor, CD320, is unknown. This allele is annotated in ClinVar as likely benign, pathogenic, and of uncertain significance. To determine functional consequence a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30bed215cff61b933b6a2cd3e357f290
https://doi.org/10.1002/ajmg.a.62627
https://doi.org/10.1002/ajmg.a.62627
Autor:
David Watkins, David S. Rosenblatt
Publikováno v:
Genetic Disorders and the Fetus. :1035-1049
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3b8d6951066f6417956d872e4592d7b2
https://doi.org/10.1002/9781119676980.ch28
https://doi.org/10.1002/9781119676980.ch28
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:
David, Watkins, David S, Rosenblatt
Publikováno v:
Vitamins and hormones. 119
Cobalamin (vitamin B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::55bd003a0592b82948d4092c9fb13b3a
https://pubmed.ncbi.nlm.nih.gov/35337626
https://pubmed.ncbi.nlm.nih.gov/35337626
Autor:
Duncan Lejtenyi, Reza Alizadehfar, David S. Rosenblatt, Bruce Mazer, Lina Sobhi Abdrabo, Sophie Ran Wang, Joël Lafond-Lapalme, Mehdi Yeganeh, Christine McCusker, Jean-Baptiste Rivière, Tallal Basha
Publikováno v:
LymphoSign Journal. 7:25-36
Background: Patients with chromosome 18 abnormalities can present with an immune phenotype that resembles common variable immunodeficiency. Knowledge of the genes underlying the immune defects related to chromosome 18 aberrations could improve our un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c84672cb32d80265ff14a590c52e161
https://doi.org/10.14785/lymphosign-2019-0013
https://doi.org/10.14785/lymphosign-2019-0013