Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Melita D. Irving"'
Autor:
Scott E. Youlten, John P. Kemp, John G. Logan, Elena J. Ghirardello, Claudio M. Sergio, Michael R. G. Dack, Siobhan E. Guilfoyle, Victoria D. Leitch, Natalie C. Butterfield, Davide Komla-Ebri, Ryan C. Chai, Alexander P. Corr, James T. Smith, Sindhu T. Mohanty, John A. Morris, Michelle M. McDonald, Julian M. W. Quinn, Amelia R. McGlade, Nenad Bartonicek, Matt Jansson, Konstantinos Hatzikotoulas, Melita D. Irving, Ana Beleza-Meireles, Fernando Rivadeneira, Emma Duncan, J. Brent Richards, David J. Adams, Christopher J. Lelliott, Robert Brink, Tri Giang Phan, John A. Eisman, David M. Evans, Eleftheria Zeggini, Paul A. Baldock, J. H. Duncan Bassett, Graham R. Williams, Peter I. Croucher
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-21 (2021)
Osteocytes are the master regulatory cells within the skeleton. Here, the authors map the transcriptome of osteocytes from diverse skeletal sites, ages and between sexes and identify an osteocyte transcriptome signature associated with rare skeletal
Externí odkaz:
https://doaj.org/article/60182d9a653b4b4d9d0b7b34378bcb3e
Autor:
Adam R. Prickett, Bertille Montibus, Nikolaos Barkas, Samuele M. Amante, Maurício M. Franco, Michael Cowley, William Puszyk, Matthew F. Shannon, Melita D. Irving, Marta Madon-Simon, Andrew Ward, Reiner Schulz, H. Scott Baldwin, Rebecca J. Oakey
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Dopa decarboxylase (DDC) synthesizes serotonin in the developing mouse heart where it is encoded by Ddc_exon1a, a tissue-specific paternally expressed imprinted gene. Ddc_exon1a shares an imprinting control region (ICR) with the imprinted, maternally
Externí odkaz:
https://doaj.org/article/ae3e5048d96b4447a5c8d0554890d0bb
Autor:
James F. H. Pittaway, Christopher Harrison, Yumie Rhee, Muriel Holder-Espinasse, Alan E. Fryer, Tim Cundy, William M. Drake, Melita D. Irving
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Abstract Background Hajdu-Cheney syndrome (HCS) (#OMIM 102500) is a rare, autosomal dominant condition that presents in early childhood. It is caused by mutations in the terminal exon of NOTCH2, which encodes the transmembrane NOTCH2 receptor. This p
Externí odkaz:
https://doaj.org/article/7137234905074ce4b6caf9d31248decd
Autor:
James F. H. Pittaway, Christopher Harrison, Yumie Rhee, Muriel Holder-Espinasse, Alan E. Fryer, Tim Cundy, William M. Drake, Melita D. Irving
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-1 (2019)
After publication of this article [1], it is noticed reference no. 17 was incorrectly provided, details are shown below.
Externí odkaz:
https://doaj.org/article/c8f6e355ac3b45e38aa1767570fd01c0
Autor:
Joo Wook Ahn, Susan Bint, Melita D. Irving, Phillipa M. Kyle, Ranjit Akolekar, Shehla N. Mohammed, Caroline Mackie Ogilvie
Publikováno v:
PeerJ, Vol 2, p e354 (2014)
Purpose. To design and validate a prenatal chromosomal microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding t
Externí odkaz:
https://doaj.org/article/7ebf1373d00640fda52330be1a808f44
Publikováno v:
Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy. 20(3)
Hajdu-Cheney syndrome (HJCYS) is a rare, autosomal dominant, skeletal disorder caused by mutations in the NOTCH2 signaling pathway for which genetic testing has recently become available. Renal abnormalities are associated in at least 10% of cases. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1fac67ed12f2afd40f58c54e25326a95
https://pubmed.ncbi.nlm.nih.gov/27312922
https://pubmed.ncbi.nlm.nih.gov/27312922