Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Simon A Ramsbottom"'
Autor:
Simon A Ramsbottom, Vipul Sharma, Hong Jun Rhee, Lorraine Eley, Helen M Phillips, Hannah F Rigby, Charlotte Dean, Bill Chaudhry, Deborah J Henderson
Publikováno v:
PLoS Genetics, Vol 10, Iss 12, p e1004871 (2014)
Planar cell polarity (PCP) is the mechanism by which cells orient themselves in the plane of an epithelium or during directed cell migration, and is regulated by a highly conserved signalling pathway. Mutations in the PCP gene Vangl2, as well as in o
Externí odkaz:
https://doaj.org/article/15d5009c01be42c08a567d264526619a
Autor:
Miguel Barroso‐Gil, Eric Olinger, Simon A. Ramsbottom, Elisa Molinari, Colin G. Miles, John A. Sayer
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Abstract Background Mutations in ciliary genes cause a spectrum of both overlapping and distinct clinical syndromes (ciliopathies). CEP120 and CC2D2A are paradigmatic examples for this genetic heterogeneity and pleiotropy as mutations in both cause J
Externí odkaz:
https://doaj.org/article/266582edfac14fc19954305d9954cf83
Autor:
Kari-Anne M. Frikstad, Elisa Molinari, Marianne Thoresen, Simon A. Ramsbottom, Frances Hughes, Stef J.F. Letteboer, Sania Gilani, Kay O. Schink, Trond Stokke, Stefan Geimer, Lotte B. Pedersen, Rachel H. Giles, Anna Akhmanova, Ronald Roepman, John A. Sayer, Sebastian Patzke
Publikováno v:
Cell Reports, Vol 28, Iss 7, Pp 1907-1922.e6 (2019)
Summary: CEP104 is an evolutionarily conserved centrosomal and ciliary tip protein. CEP104 loss-of-function mutations are reported in patients with Joubert syndrome, but their function in the etiology of ciliopathies is poorly understood. Here, we sh
Externí odkaz:
https://doaj.org/article/64cd3655c3764130ba8e0811b1fe5fe9
Publikováno v:
F1000Research, Vol 7 (2018)
Zebrafish are a valuable vertebrate model in which to study development and characterize genes involved in cystic kidney disease. Zebrafish embryos and larvae are transparent, allowing non-invasive imaging during their rapid development, which takes
Externí odkaz:
https://doaj.org/article/21b3c8fdb2d0419298cfcefcceb6e12f
Publikováno v:
F1000Research, Vol 7 (2018)
Zebrafish are a valuable vertebrate model in which to study development and characterize genes involved in cystic kidney disease. Zebrafish embryos and larvae are transparent, allowing non-invasive imaging during their rapid development, which takes
Externí odkaz:
https://doaj.org/article/f6dcfca8200d4a6fbcf8c5bf234ea7f5
Publikováno v:
F1000Research, Vol 6 (2017)
Mutations that give rise to premature termination codons are a common cause of inherited genetic diseases. When transcripts containing these changes are generated, they are usually rapidly removed by the cell through the process of nonsense-mediated
Externí odkaz:
https://doaj.org/article/1ca6ddcb8f5e41628b8a89f6b6a44d16
Autor:
Eric Olinger, Miguel Barroso-Gil, Simon A. Ramsbottom, Elisa Molinari, John A. Sayer, Colin G. Miles
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Mutations in ciliary genes cause a spectrum of both overlapping and distinct clinical syndromes (ciliopathies). CEP120 and CC2D2A are paradigmatic examples for this genetic heterogeneity and pleiotropy as mutations in both cause Joubert sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68480d5caba869463e7550fcfd39dfd2
https://doaj.org/article/266582edfac14fc19954305d9954cf83
https://doaj.org/article/266582edfac14fc19954305d9954cf83
Autor:
Philip Booth, John A. Sayer, Seamus M. McLafferty, Laura A. Devlin, Kathryn White, Colin G. Miles, Meral Gunay-Aygun, Shalabh Srivastava, Elisa Molinari, Simon A. Ramsbottom, Sumaya Alkanderi
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-13 (2019)
Scientific Reports
Scientific Reports
Joubert syndrome (JBTS) is an incurable multisystem ciliopathy syndrome. The most commonly mutated gene in JBTS patients with a cerebello-retinal-renal phenotype is CEP290 (alias JBTS5). The encoded CEP290 protein localises to the proximal end of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19fc2779f7c9b1c9b2902fb07b63aa3a
http://link.springer.com/article/10.1038/s41598-019-47243-z
http://link.springer.com/article/10.1038/s41598-019-47243-z
Autor:
Simon A. Ramsbottom, Mary E. Pownall
Publikováno v:
Journal of Developmental Biology, Vol 4, Iss 3, p 23 (2016)
The hedgehog (Hh) signalling pathway is conserved throughout metazoans and plays an important regulatory role in both embryonic development and adult homeostasis. Many levels of regulation exist that control the release, reception, and interpretation
Externí odkaz:
https://doaj.org/article/c2df48433fc94f08976bc4078776b629
Autor:
L Powell, M Barroso-Gil, Gavin J Clowry, Laura A Devlin, Elisa Molinari, Simon A Ramsbottom, Colin G Miles, John Sayer
Background: Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently described gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::163e6dd6d9387f3168acc4ee179fe793
https://doi.org/10.21203/rs.3.rs-49994/v3
https://doi.org/10.21203/rs.3.rs-49994/v3
