Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Natascia, Anastasio"'
Autor:
Tenzin Gayden, Gabriel Crevier-Sorbo, Wajih Jawhar, Christine Saint-Martin, Robert Eveleigh, Mirko S. Gilardino, Natascia Anastasio, Yannis Trakadis, Angelia V. Bassenden, Albert M. Berghuis, Nada Jabado, Roy W. R. Dudley
Publikováno v:
Journal of Neurosurgery: Pediatrics. :1-9
OBJECTIVE The aim of this study was to characterize a novel pathogenic variant in the transient receptor potential vanilloid 4 (TRPV4) gene, causing familial nonsyndromic craniosynostosis (CS) with complete penetrance and variable expressivity. METHO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c3e6bf7219223be00d933f25d91c3c9
https://doi.org/10.3171/2023.1.peds22287
https://doi.org/10.3171/2023.1.peds22287
Publikováno v:
Cancer Genetics. :25
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ac194f6feaa2e4d4a505ad7919776e8
https://doi.org/10.1016/j.cancergen.2022.10.079
https://doi.org/10.1016/j.cancergen.2022.10.079
Autor:
Janine, El Helou, Tracy B, Perry, Natascia, Anastasio, Karen A, Holbrook, David S, Rosenblatt
Publikováno v:
Molecular Genetics and Metabolism. 135:309-310
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6d7132f794bf76c203fcc40db9ad9db
https://doi.org/10.1016/j.ymgme.2022.02.004
https://doi.org/10.1016/j.ymgme.2022.02.004
Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes
Autor:
Daniela Buhas, Britt I. Drögemöller, Natascia Anastasio, Wyeth W. Wasserman, Reem Al-Khalifah, Clara D.M. van Karnebeek, Colin J. D. Ross, Maja Tarailo-Graovac, Laurent Legault
Publikováno v:
JIMD reports, 31, 57-62. Springer Berlin
JIMD Reports ISBN: 9783662541180
JIMD Reports ISBN: 9783662541180
Hyperglycemia is a rare presenting symptom of mitochondrial disorders. We report a case of a young girl who presented shortly after birth with ketoacidosis, hyperlactatemia, hyperammonemia, and insulin-responsive hyperglycemia. Initial metabolic work
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb187464277bbab15d81b025cc7e2822
https://pure.amc.nl/en/publications/mitochondrial-complex-iii-deficiency-with-ketoacidosis-and-hyperglycemia-mimicking-neonatal-diabetes(7e80a1c6-c146-465e-90d5-8d99e69215eb).html
https://pure.amc.nl/en/publications/mitochondrial-complex-iii-deficiency-with-ketoacidosis-and-hyperglycemia-mimicking-neonatal-diabetes(7e80a1c6-c146-465e-90d5-8d99e69215eb).html
Autor:
David Coelho, Chantal F. Morel, Junhui Liu, Brian Fowler, Martin Stucki, Natascia Anastasio, Terttu Suormala, Amanda D. Loewy, Scott Gurd, Jordan P. Lerner-Ellis, Matthias R. Baumgartner, Tomi Pastinen, David Watkins, David S. Rosenblatt, Elin Grundberg
Publikováno v:
Human Mutation. 30:1072-1081
Methylmalonic aciduria and homocystinuria, cblC type, is a rare disorder of intracellular vitamin B(12) (cobalamin [Cbl]) metabolism caused by mutations in the MMACHC gene. MMACHC was sequenced from the gDNA of 118 cblC individuals. Eleven novel muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5a92aa210ba18fa32c6743cfeef1c31
https://doi.org/10.1002/humu.21001
https://doi.org/10.1002/humu.21001
Autor:
Serge Melancon, Ahmed Alfares, Natascia Anastasio, Laura Dempsey Nunez, David S. Rosenblatt, John J. Mitchell, Nancy Braverman, Jacek Majewski, Kevin C.H. Ha, Khalid Al-Thihli
Publikováno v:
Journal of medical genetics. 48(9)
Background Combined Malonic and Methylmalonic Aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid (MA) and methylmalonic acid (MMA). Nearly all reported cases are caused by malonyl-CoA de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7802c80967c35e4304a35661e47e5238
https://pubmed.ncbi.nlm.nih.gov/21785126
https://pubmed.ncbi.nlm.nih.gov/21785126
Autor:
Edward V. Quadros, Sergey N. Fedosov, Jeffrey M. Sequeira, Shao-Chiang Lai, David Watkins, Luciana Hannibal, Renata C. Gallagher, David S. Rosenblatt, Erica L. Wright, Natascia Anastasio, Yasumi Nakayama, Sihe Wang, Donald W. Jacobsen
Elevated methylmalonic acid in five asymptomatic newborns whose fibroblasts showed decreased uptake of transcobalamin-bound cobalamin (holo-TC), suggested a defect in the cellular uptake of cobalamin. Analysis of TCblR/CD320, the gene for the recepto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dbeafc866df7e4a8ffa38c7bface8d2
https://europepmc.org/articles/PMC2909035/
https://europepmc.org/articles/PMC2909035/
Autor:
Tomi Pastinen, Natascia Anastasio, Amanda D. Loewy, Kirsten M. Niles, David Watkins, David S. Rosenblatt, Jordan P. Lerner-Ellis, Jacquetta M. Trasler, Josée Lavoie
Publikováno v:
Molecular genetics and metabolism. 96(4)
Methionine dependence, the inability of cells to grow when the amino acid methionine is replaced in culture medium by its metabolic precursor homocysteine, is characteristic of many cancer cell lines and some tumors in situ . Most cell lines prolifer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5027bc59c44606f096d25fd5d742250f
https://pubmed.ncbi.nlm.nih.gov/19200761
https://pubmed.ncbi.nlm.nih.gov/19200761