Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Alice L. Mitchell"'
Autor:
Risha Amarsi, Samuel Furse, Mary A. M. Cleaton, Sarah Maurel, Alice L. Mitchell, Anne C. Ferguson-Smith, Nicolas Cenac, Catherine Williamson, Albert Koulman, Marika Charalambous
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Abstract The long and very long chain polyunsaturated fatty acids (LC-PUFAs) are preferentially transported by the mother to the fetus. Failure to supply LC-PUFAs is strongly linked with stillbirth, fetal growth restriction, and impaired neurodevelop
Externí odkaz:
https://doaj.org/article/3576b3f3545c494289c5656af0cfc34b
Autor:
Peter H. Dixon, Adam P. Levine, Inês Cebola, Melanie M. Y. Chan, Aliya S. Amin, Anshul Aich, Monika Mozere, Hannah Maude, Alice L. Mitchell, Jun Zhang, NIHR BioResource, Genomics England Research Consortium Collaborators, Jenny Chambers, Argyro Syngelaki, Jennifer Donnelly, Sharon Cooley, Michael Geary, Kypros Nicolaides, Malin Thorsell, William M. Hague, Maria Cecilia Estiu, Hanns-Ulrich Marschall, Daniel P. Gale, Catherine Williamson
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
Investigation of variation in three cohorts has identified multiple genetic signals associated with the pregnancy-specific liver disorder, intrahepatic cholestasis of pregnancy, giving insight into the disease which can cause preterm birth and stillb
Externí odkaz:
https://doaj.org/article/f480b14d76d840a19e63ce9f638cd0fd
Autor:
Enrico Bugiardini, Alan M. Pittman, Conceição Bettencourt, C Woodward, Henry Houlden, Alejandro Horga, Antonella Spinazzola, Ilaria Dalla Rosa, Iain P. Hargreaves, Langping He, Emma L. Blakely, Michael G. Hanna, Sachit Shah, Andreea Manole, Alice L Mitchell, Robert W. Taylor, Robert D S Pitceathly, James M. Polke, Ian J Holt, Mary M. Reilly, Walied Mowafi, Ros Quinlivan
Publikováno v:
Molecular Biology Reports. 48:2093-2104
Mutations in nuclear-encoded protein subunits of the mitochondrial ribosome are an increasingly recognised cause of oxidative phosphorylation system (OXPHOS) disorders. Among them, mutations in the MRPL44 gene, encoding a structural protein of the la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a62207667a5b17ffd1f7fbb71ad1e3c
https://doi.org/10.1007/s11033-021-06188-1
https://doi.org/10.1007/s11033-021-06188-1
Publikováno v:
BJOG : an international journal of obstetrics and gynaecology. 129(11)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a592894af30a707d24dd70c357756f8c
https://pubmed.ncbi.nlm.nih.gov/35426217
https://pubmed.ncbi.nlm.nih.gov/35426217
Autor:
Hei Man Fan, Alice L. Mitchell, Elena Bellafante, Saraid McIlvride, Laura I. Primicheru, Mirko Giorgi, Ivano Eberini, Argyro Syngelaki, Anita Lövgren-Sandblom, Peter Jones, David McCance, Nithya Sukumar, Nishanthi Periyathambi, Yonas Weldeselassie, Katharine F. Hunt, Kypros H. Nicolaides, David Andersson, Stuart Bevan, Paul T. Seed, Gavin A. Bewick, James E. Bowe, Franca Fraternali, Ponnusamy Saravanan, Hanns-Ulrich Marschall, Catherine Williamson
Serum progesterone sulfates were evaluated in the etiology of gestational diabetes mellitus (GDM). Serum progesterone sulfates were measured using ultra-performance liquid chromatography–tandem mass spectrometry in four patient cohorts: 1) the Hype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e157d696956654f3b925c7fdb3198f6
https://doi.org/10.2337/figshare.18813578.v1
https://doi.org/10.2337/figshare.18813578.v1
Autor:
Alejandro, Horga, Andreea, Manole, Alice L, Mitchell, Enrico, Bugiardini, Iain P, Hargreaves, Walied, Mowafi, Conceição, Bettencourt, Emma L, Blakely, Langping, He, James M, Polke, Catherine E, Woodward, Ilaria, Dalla Rosa, Sachit, Shah, Alan M, Pittman, Ros, Quinlivan, Mary M, Reilly, Robert W, Taylor, Ian J, Holt, Michael G, Hanna, Robert D S, Pitceathly, Antonella, Spinazzola, Henry, Houlden
Publikováno v:
Molecular biology reports. 48(3)
Mutations in nuclear-encoded protein subunits of the mitochondrial ribosome are an increasingly recognised cause of oxidative phosphorylation system (OXPHOS) disorders. Among them, mutations in the MRPL44 gene, encoding a structural protein of the la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3e657aec848fe35279a97624074c2439
https://pubmed.ncbi.nlm.nih.gov/33742325
https://pubmed.ncbi.nlm.nih.gov/33742325
Autor:
Serena Lattante, Marcella Zollino, Paolo Niccolò Doronzio, Aleck W.E. Jones, Antonella Spinazzola, Elizabeth M. A. Hirst, Ilaria Dalla Rosa, Romina Durigon, Henry Houlden, Alice L Mitchell, Giuseppe Maragni, Ian J Holt, Andreea Manole, Mara Mennuni
Publikováno v:
EMBO Molecular Medicine
EMBO Molecular Medicine, Vol 10, Iss 9, Pp n/a-n/a (2018)
EMBO Molecular Medicine, Vol 10, Iss 9, Pp n/a-n/a (2018)
The diverse clinical phenotypes of Wolf–Hirschhorn syndrome (WHS) are the result of haploinsufficiency of several genes, one of which, LETM1, encodes a protein of the mitochondrial inner membrane of uncertain function. Here, we show that LETM1 is a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f52359f6c5d9a714302263c2662e1a83
http://hdl.handle.net/10807/134209
http://hdl.handle.net/10807/134209
Autor:
Henry Houlden, Ian Holt, Enrico Bugiardini, Hue-Tran Horning-Do, Alexey Amunts, Janice L. Holton, Cathy E. Woodward, Alice L Mitchell, Sachit Shah, Michael G. Hanna, Rosaline Quinlivan, Rudolf J. Wiesner, Alan M Pitmann, Antonella Spinazzola, Robert D S Pitceathly, Ilaria Dalla Rosa, Olivia V. Poole, Iain P. Hargreaves
Publikováno v:
Human Molecular Genetics
Mitochondrial disorders are clinically and genetically heterogeneous and are associated with a variety of disease mechanisms. Defects of mitochondrial protein synthesis account for the largest subgroup of disorders manifesting with impaired respirato
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62b4cd36ca2d1a1d119ca863faac8c23
https://researchonline.ljmu.ac.uk/id/eprint/11032/1/enrico.pdf
https://researchonline.ljmu.ac.uk/id/eprint/11032/1/enrico.pdf
Autor:
Romina Durigon, Alice L Mitchell, Aleck WE Jones, Andreea Manole, Mara Mennuni, Elizabeth MA Hirst, Henry Houlden, Giuseppe Maragni, Serena Lattante, Paolo Niccolo’ Doronzio, Ilaria Dalla Rosa, Marcella Zollino, Ian J Holt, Antonella Spinazzola
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 9, Pp 1-20 (2018)
Abstract The diverse clinical phenotypes of Wolf–Hirschhorn syndrome (WHS) are the result of haploinsufficiency of several genes, one of which, LETM1, encodes a protein of the mitochondrial inner membrane of uncertain function. Here, we show that L
Externí odkaz:
https://doaj.org/article/1e9b97c05f204f27bc09bdacc3041823