Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Tertius A. Hough"'
Autor:
Kreepa G. Kooblall, Mark Stevenson, Michelle Stewart, Lachlan Harris, Oressia Zalucki, Hannah Dewhurst, Natalie Butterfield, Houfu Leng, Tertius A. Hough, Da Ma, Bernard Siow, Paul Potter, Roger D. Cox, Stephen D.M. Brown, Nicole Horwood, Benjamin Wright, Helen Lockstone, David Buck, Tonia L. Vincent, Fadil M. Hannan, J.H. Duncan Bassett, Graham R. Williams, Kate E. Lines, Michael Piper, Sara Wells, Lydia Teboul, Raoul C. Hennekam, Rajesh V. Thakker
Publikováno v:
JBMR Plus, Vol 7, Iss 6, Pp n/a-n/a (2023)
The nuclear factor I/X (NFIX) gene encodes a ubiquitously expressed transcription factor whose mutations lead to two allelic disorders characterized by developmental, skeletal, and neural abnormalities, namely, Malan syndrome (MAL) and Marshall–Smi
Externí odkaz:
https://doaj.org/article/e6e65049660d4723b8974df714e0b83f
Autor:
Sian E. Piret, Eric Olinger, Anita A. C. Reed, M. Andrew Nesbit, Tertius A. Hough, Liz Bentley, Olivier Devuyst, Roger D. Cox, Rajesh V. Thakker
Publikováno v:
Disease Models & Mechanisms, Vol 10, Iss 6, Pp 773-786 (2017)
Renal fibrosis is a common feature of renal failure resulting from multiple etiologies, including diabetic nephropathy, hypertension and inherited renal disorders. However, the mechanisms of renal fibrosis are incompletely understood and we therefore
Externí odkaz:
https://doaj.org/article/c0c096b86bf144ef9707f9184689718e
Loss of arylformamidase with reduced thymidine kinase expression leads to impaired glucose tolerance
Autor:
Alison J. Hugill, Michelle E. Stewart, Marianne A. Yon, Fay Probert, I. Jane Cox, Tertius A. Hough, Cheryl L. Scudamore, Liz Bentley, Gary Wall, Sara E. Wells, Roger D. Cox
Publikováno v:
Biology Open, Vol 4, Iss 11, Pp 1367-1375 (2015)
Tryptophan metabolites have been linked in observational studies with type 2 diabetes, cognitive disorders, inflammation and immune system regulation. A rate-limiting enzyme in tryptophan conversion is arylformamidase (Afmid), and a double knockout o
Externí odkaz:
https://doaj.org/article/0d46b7420e604bf78174db331289ed60
Autor:
null Kreepa G. Kooblall, null Mark Stevenson, null Michelle Stewart, null Lachlan Harris, null Oressia Zalucki, null Hannah Dewhurst, null Natalie Butterfield, null Houfu Leng, null Tertius A. Hough, null Da Ma, null Bernard Siow, null Paul Potter, null Roger D. Cox, null Stephen D.M. Brown, null Nicole Horwood, null Benjamin Wright, null Helen Lockstone, null David Buck, null Tonia L. Vincent, null Fadil M. Hannan, null J.H. Duncan Bassett, null Graham R. Williams, null Kate E. Lines, null Michael Piper, null Sara Wells, null Lydia Teboul, null Raoul C. Hennekam, null Rajesh V. Thakker
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cc95ca703920ea3db5407b11d4acf4a
https://doi.org/10.1002/jbm4.10739/v3/response1
https://doi.org/10.1002/jbm4.10739/v3/response1
Autor:
Heshan Peiris, Michael D Duffield, Joao Fadista, Claire F Jessup, Vinder Kashmir, Amanda J Genders, Sean L McGee, Alyce M Martin, Madiha Saiedi, Nicholas Morton, Roderick Carter, Michael A Cousin, Alexandros C Kokotos, Nikolay Oskolkov, Petr Volkov, Tertius A Hough, Elizabeth M C Fisher, Victor L J Tybulewicz, Jorge Busciglio, Pinar E Coskun, Ann Becker, Pavel V Belichenko, William C Mobley, Michael T Ryan, Jeng Yie Chan, D Ross Laybutt, P Toby Coates, Sijun Yang, Charlotte Ling, Leif Groop, Melanie A Pritchard, Damien J Keating
Publikováno v:
PLoS Genetics, Vol 12, Iss 5, p e1006033 (2016)
Type 2 diabetes (T2D) is a complex metabolic disease associated with obesity, insulin resistance and hypoinsulinemia due to pancreatic β-cell dysfunction. Reduced mitochondrial function is thought to be central to β-cell dysfunction. Mitochondrial
Externí odkaz:
https://doaj.org/article/55d1108814ad40e3b162e4623311cfe8
Autor:
Fiona McMurray, Marina Demetriades, WeiShen Aik, Myrte Merkestein, Holger Kramer, Daniel S Andrew, Cheryl L Scudamore, Tertius A Hough, Sara Wells, Frances M Ashcroft, Michael A McDonough, Christopher J Schofield, Roger D Cox
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0121829 (2015)
In 2007, a genome wide association study identified a SNP in intron one of the gene encoding human FTO that was associated with increased body mass index. Homozygous risk allele carriers are on average three kg heavier than those homozygous for the p
Externí odkaz:
https://doaj.org/article/c9068305748e4c1b8eed30081056f2db
Autor:
Nellie Y Loh, Liz Bentley, Henrik Dimke, Sjoerd Verkaart, Paolo Tammaro, Caroline M Gorvin, Michael J Stechman, Bushra N Ahmad, Fadil M Hannan, Sian E Piret, Holly Evans, Ilaria Bellantuono, Tertius A Hough, William D Fraser, Joost G J Hoenderop, Frances M Ashcroft, Steve D M Brown, René J M Bindels, Roger D Cox, Rajesh V Thakker
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e55412 (2013)
Hypercalciuria is a major cause of nephrolithiasis, and is a common and complex disorder involving genetic and environmental factors. Identification of genetic factors for monogenic forms of hypercalciuria is hampered by the limited availability of l
Externí odkaz:
https://doaj.org/article/398083a269454e2e838e54531e91aaa4
Autor:
Christopher T Esapa, Rosie A Head, Jeshmi Jeyabalan, Holly Evans, Tertius A Hough, Michael T Cheeseman, Eugene G McNally, Andrew J Carr, Gethin P Thomas, Matthew A Brown, Peter I Croucher, Steve D M Brown, Roger D Cox, Rajesh V Thakker
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e43205 (2012)
Mutations of UDP-N-acetyl-alpha-D-galactosamine polypeptide N-acetyl galactosaminyl transferase 3 (GALNT3) result in familial tumoural calcinosis (FTC) and the hyperostosis-hyperphosphataemia syndrome (HHS), which are autosomal recessive disorders ch
Externí odkaz:
https://doaj.org/article/f3daf5790f834182ba84b775deebca5e
Autor:
Michael T Cheeseman, Kate Vowell, Tertius A Hough, Lynn Jones, Paras Pathak, Hayley E Tyrer, Michelle Kelly, Roger Cox, Madhuri V Warren, Jo Peters
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e51835 (2012)
GNAS/Gnas encodes G(s)α that is mainly biallelically expressed but shows imprinted expression in some tissues. In Albright Hereditary Osteodystrophy (AHO) heterozygous loss of function mutations of GNAS can result in ectopic ossification that tends
Externí odkaz:
https://doaj.org/article/dc2ecbd0286045498e7263d15a26be82
Autor:
Michael T Cheeseman, Hayley E Tyrer, Debbie Williams, Tertius A Hough, Paras Pathak, Maria R Romero, Helen Hilton, Sulzhan Bali, Andrew Parker, Lucie Vizor, Tom Purnell, Kate Vowell, Sara Wells, Mahmood F Bhutta, Paul K Potter, Steve D M Brown
Publikováno v:
PLoS Genetics, Vol 7, Iss 10, p e1002336 (2011)
Otitis media with effusion (OME) is the commonest cause of hearing loss in children, yet the underlying genetic pathways and mechanisms involved are incompletely understood. Ventilation of the middle ear with tympanostomy tubes is the commonest surgi
Externí odkaz:
https://doaj.org/article/12d63bc415b249f7b612e2389bb1acab