Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Stephen D.M. Brown"'
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:
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:
Alexandr Bezginov, Paul Flicek, Masaru Tamura, Masuya Hiroshi, Mohammed Selloum, Yeon Kyung Kang, Herault Yann, Rodney C. Samaco, Ann-Marie Mallon, Helen Parkinson, Soo Young Cho, Ghina Bou About, Nadine Spielmann, Arturo Garza, Glauco P. Tocchini-Valentini, Gregor Miller, Obata Yuichi, John R. Seavitt, Surabi Veeraragavan, Jennie R. Green, Ewan Straiton, Marie-France Champy, Ann M Flenniken, Je Kyung Seong, Kyung Dong Soo, Isabel Lorenzo, Kevin C K Lloyd, Terrence F. Meehan, Vivek Kumar, Lillian Garrett, Damian Smedley, Elif F. Acar, Hamid Meziane, Ritu Bohat, Lore Becker, Sophie Leblanc, Denise G. Lanza, Angelina Gaspero, Audrey E. Christianson, Juan Gallegos, Wurst Wolfgang, Chih-Wei Hsu, Hamed Haselimashhadi, Colin McKerlie, Ruairidh King, Stephen D.M. Brown, Dave Clary, Nobuhiko Tanaka, Tania Sorg, Helmut Fuchs, Jason D. Heaney, Jacqui White, Jeremy Mason, Martin Hrabé de Angelis, Federico López-Gómez, Laurent Vasseur, Valerie Gailus-Durner, Holger Maier, Corey L. Reynolds, Violeta Muñoz-Fuentes, Mary E Dickinson, K. O. Babalola, Patrick T. Reilly, Jong Kyoung Kim
Publikováno v:
Bioinformatics (Oxford, England), vol 36, iss 5
Bioinformatics
Bioinformatics, Oxford University Press (OUP), 2020, 36 (5), pp.1492-1500. ⟨10.1093/bioinformatics/btz744⟩
Bioinformatics (Oxford, England)
Bioinformatics
Bioinformatics, Oxford University Press (OUP), 2020, 36 (5), pp.1492-1500. ⟨10.1093/bioinformatics/btz744⟩
Bioinformatics (Oxford, England)
Motivation High-throughput phenomic projects generate complex data from small treatment and large control groups that increase the power of the analyses but introduce variation over time. A method is needed to utlize a set of temporally local control
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea426176e5d2b904070992f883f07dde
https://escholarship.org/uc/item/28f9b9xc
https://escholarship.org/uc/item/28f9b9xc
Autor:
Sara Wells, Nicole J. Horwood, Raoul C.M. Hennekam, Mark Stevenson, Tonia L. Vincent, Houfu Leng, Roger D. Cox, Kreepa Kooblall, Paul Potter, Tertius Hough, Rajesh Thakker, Lydia Teboul, Michelle Stewart, Stephen D.M. Brown, Zsombor Szoke-Kovacs
Publikováno v:
Endocrine Abstracts.
The mouse is a widely used model for investigating the pathophysiological and genetic bases of otitis media (OM). It has proven a valuable tool for investigating the multifactorial bases of OM including the role of pathogens, anatomical factors, infl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24929c1d02b5c09b8518deccdd225d78
https://ora.ox.ac.uk/objects/uuid:e628da26-bb26-4d41-92ca-613a5f766df8
https://ora.ox.ac.uk/objects/uuid:e628da26-bb26-4d41-92ca-613a5f766df8
Utilizing a Mus spretus/Mus domesticus ( C57BL 10 ) interspecific backcross, we have constructed a multipoint genetic map of mouse chromosome 16 that extends 43.2 cM from the proximal Prm-1 locus to the distal Ets-2 locus. The genetic map incorporate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46aa275d96e4a49d4dcc81ddf060ef01
https://ora.ox.ac.uk/objects/uuid:07b3eff6-ae7c-485a-94ba-9fb001c380c3
https://ora.ox.ac.uk/objects/uuid:07b3eff6-ae7c-485a-94ba-9fb001c380c3
Autor:
Stephen D.M. Brown, Mark W. Moore
Publikováno v:
Mammalian Genome. 23:632-640
Determining the function of all mammalian genes remains a major challenge for the biomedical science community in the 21st century. The goal of the International Mouse Phenotyping Consortium (IMPC) over the next 10 years is to undertake broad-based p
Publikováno v:
The Journal of Neuroscience. 19:6267-6274
Two types of Usher syndrome, a blindness–deafness disorder, result from mutations in the myosin VIIa gene. As for most other unconventional myosins, little is known about the function or functions of myosin VIIa. Here, we studied the photoreceptor
Autor:
Karen P. Steel, Stephen D.M. Brown
Publikováno v:
Current Opinion in Neurobiology. 6:520-525
The genetics of deafness is a rapidly expanding area of research. A remarkable total of twenty-two genes involved in non-syndromic deafness in humans have been localized within the past two years, compared with only one known previously. Some of the
Autor:
Mark K. Maconochie, Alan H. Simpkins, Elsie Damien, Andrew J. Greenfield, Gary Coulton, Stephen D.M. Brown
Publikováno v:
Transgenic Research. 5:123-130
Dystrophin has a modular structure and is believed to be critical for muscle cell cytoarchitecture by linking the cytoskeleton to the extracellular matrix. The N-terminus binds to actin and two domains at the C-terminus, the cysteine-rich and C-termi