Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Theresa Tachie-Menson"'
Autor:
Kevin Z.L. Wu, Rebecca A. Jones, Theresa Tachie-Menson, Thomas J. Macartney, Nicola T. Wood, Joby Varghese, Robert Gourlay, Renata F. Soares, James C. Smith, Gopal P. Sapkota
Publikováno v:
Wellcome Open Research, Vol 4 (2020)
Background: Two recessive mutations in the FAM83G gene, causing A34E and R52P amino acid substitutions in the DUF1669 domain of the PAWS1 protein, are associated with palmoplantar keratoderma (PPK) in humans and dogs respectively. We have previously
Externí odkaz:
https://doaj.org/article/6d803ddfa9804a42b43f77a667ddecfe
Autor:
Kevin Z.L. Wu, Rebecca A. Jones, Theresa Tachie-Menson, Thomas J. Macartney, Nicola T. Wood, Joby Varghese, Robert Gourlay, Renata F. Soares, James C. Smith, Gopal P. Sapkota
Publikováno v:
Wellcome Open Research, Vol 4 (2019)
Background: Two recessive mutations in the FAM83G gene, causing A34E and R52P amino acid substitutions in the DUF1669 domain of the PAWS1 protein, are associated with palmoplantar keratoderma (PPK) in humans and dogs respectively. We have previously
Externí odkaz:
https://doaj.org/article/825b99f7ce8c4131b3178e4180dfa8e2
Autor:
Sarah-Lena Offenburger, Xue Yan Ho, Theresa Tachie-Menson, Sean Coakley, Massimo A Hilliard, Anton Gartner
Publikováno v:
PLoS Genetics, Vol 14, Iss 1, p e1007125 (2018)
Oxidative stress is linked to many pathological conditions including the loss of dopaminergic neurons in Parkinson's disease. The vast majority of disease cases appear to be caused by a combination of genetic mutations and environmental factors. We s
Externí odkaz:
https://doaj.org/article/ba08b8cd90554533b7a794bca251dbaf
Autor:
Renata F. Soares, Gopal P. Sapkota, Ana Gázquez-Gutiérrez, Nicola T. Wood, Luke J. Fulcher, Theresa Tachie-Menson, Robert Gourlay, Joby Varghese, Thomas Macartney
Publikováno v:
Cellular Signalling
The majority of mutations identified in patients with amelogenesis imperfecta have been mapped to FAM83H. As FAM83H expression is not limited to the enamel, how FAM83H contributes to amelogenesis is still largely unknown. We previously reported that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a3ce886c5dc6e8e666e7bdd12e63e6
https://pubmed.ncbi.nlm.nih.gov/32289446
https://pubmed.ncbi.nlm.nih.gov/32289446
Autor:
Kevin Z L, Wu, Rebecca A, Jones, Theresa, Tachie-Menson, Thomas J, Macartney, Nicola T, Wood, Joby, Varghese, Robert, Gourlay, Renata F, Soares, James C, Smith, Gopal P, Sapkota
Publikováno v:
Wellcome Open Research
Background: Two recessive mutations in the FAM83G gene, causing A34E and R52P amino acid substitutions in the DUF1669 domain of the PAWS1 protein, are associated with palmoplantar keratoderma (PPK) in humans and dogs respectively. We have previously
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5877866a9ac14b7727d0634154ee1b99
https://pubmed.ncbi.nlm.nih.gov/31656861
https://pubmed.ncbi.nlm.nih.gov/31656861
Autor:
Robert Gourlay, Renata F. Soares, James C. Smith, Kevin Z. L. Wu, Nicola T. Wood, Gopal P. Sapkota, Rebecca A. Jones, Joby Varghese, Thomas Macartney, Theresa Tachie-Menson
Publikováno v:
Wellcome Open Research. 4:133
Background: Two recessive mutations in the FAM83G gene, causing A34E and R52P amino acid substitutions in the DUF1669 domain of the PAWS1 protein, are associated with palmoplantar keratoderma (PPK) in humans and dogs respectively. We have previously
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7847b5d42de74cc303cde4a3dd2d916
https://doi.org/10.12688/wellcomeopenres.15403.2
https://doi.org/10.12688/wellcomeopenres.15403.2
Autor:
Joshua C. Bufton, Daniel M. Pinkas, Karen Dunbar, Sabin Shrestha, Timothy D. Cummins, Gopal P. Sapkota, Kevin S. Dingwell, James C. Smith, Luke J. Fulcher, Polyxeni Bozatzi, Alex N. Bullock, Joby Varghese, Theresa Tachie-Menson, Simone Weidlich, Nicola T. Wood, Thomas Macartney, Robert Gourlay, David G. Campbell, Kevin Z. L. Wu
The casein kinase 1 (CK1) family of serine-threonine protein kinases are implicated in the regulation of many cellular processes, including the cell cycle, circadian rhythms, and Wnt and Hedgehog signalling. It is therefore critically important to un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0694906ffe7c00e07e8c7af4fb3e5210
https://doi.org/10.1126/scisignal.aao2341
https://doi.org/10.1126/scisignal.aao2341
Autor:
Massimo A. Hilliard, Anton Gartner, Theresa Tachie-Menson, Xue Yan Ho, Sean Coakley, Sarah-Lena Offenburger
Oxidative stress is linked to many pathological conditions including the loss of dopaminergic neurons in Parkinson’s disease. The vast majority of disease cases appear to be caused by a combination of genetic mutations and environmental factors. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cec21d659037c819c93ec08d8243f9dc