Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Louise H Williams"'
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e74243 (2013)
Animal models that recapitulate human disease are proving to be an invaluable tool in the identification of novel disease-associated genes. These models can improve our understanding of the complex genetic mechanisms involved in disease and provide a
Externí odkaz:
https://doaj.org/article/6e3d9a5751d549ecb449b3bb60e32efc
Autor:
Kerry A Miller, Louise H Williams, Elizabeth Rose, Michael Kuiper, Hans-Henrik M Dahl, Shehnaaz S M Manji
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e51284 (2012)
Human MYO7A mutations can cause a variety of conditions involving the inner ear. These include dominant and recessive non-syndromic hearing loss and syndromic conditions such as Usher syndrome. Mouse models of deafness allow us to investigate functio
Externí odkaz:
https://doaj.org/article/d7055fa0af4547088767169f6c5fc143
Autor:
Shehnaaz S M Manji, Louise H Williams, Kerry A Miller, Lisa M Ooms, Melanie Bahlo, Christina A Mitchell, Hans-Henrik M Dahl
Publikováno v:
PLoS ONE, Vol 6, Iss 3, p e17607 (2011)
Hearing impairment is the most common sensory impairment in humans, affecting 1:1,000 births. We have identified an ENU generated mouse mutant, Mozart, with recessively inherited, non-syndromic progressive hearing loss caused by a mutation in the syn
Externí odkaz:
https://doaj.org/article/66b3bb9bee1a448193c836fec6c9afef
Autor:
Kylie L Gorringe, Joshy George, Michael S Anglesio, Manasa Ramakrishna, Dariush Etemadmoghadam, Prue Cowin, Anita Sridhar, Louise H Williams, Samantha E Boyle, Nozomu Yanaihara, Aikou Okamoto, Mitsuyoshi Urashima, Gordon K Smyth, Ian G Campbell, David D L Bowtell, Australian Ovarian Cancer Study
Publikováno v:
PLoS ONE, Vol 5, Iss 9, p e815 (2010)
Ovarian cancer is a heterogeneous disease displaying complex genomic alterations, and consequently, it has been difficult to determine the most relevant copy number alterations with the scale of studies to date. We obtained genome-wide copy number al
Externí odkaz:
https://doaj.org/article/bf27f078765340e890a95da9aab9f420
Autor:
Manasa Ramakrishna, Louise H Williams, Samantha E Boyle, Jennifer L Bearfoot, Anita Sridhar, Terence P Speed, Kylie L Gorringe, Ian G Campbell
Publikováno v:
PLoS ONE, Vol 5, Iss 4, p e9983 (2010)
Ovarian cancer is a disease characterised by complex genomic rearrangements but the majority of the genes that are the target of these alterations remain unidentified. Cataloguing these target genes will provide useful insights into the disease etiol
Externí odkaz:
https://doaj.org/article/a4f3f38f285a40a3b8b3ffd12128ec19
Publikováno v:
The American Journal of Pathology. 180:1560-1569
We report the identification of three new mouse models, baringo, nice, and stitch, with recessively inherited sensorineural deafness due to novel mutations in the transmembrane channel-like gene 1 (Tmc1). These strains were generated by N-ethyl-N-nit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99837863fd8cd6a798f47fb23aaab211
https://doi.org/10.1016/j.ajpath.2011.12.034
https://doi.org/10.1016/j.ajpath.2011.12.034
Publikováno v:
Journal of Pharmacy Practice and Research. 40:101-105
Background: Despite the uncertainty regarding flucloxacillin's stability, flucloxacillin solutions are routinely used as 24-hour ambulatory infusions for hospital-in-the-home patients. Aim: To determine the stability of flucloxacillin solutions in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e249c4c39e83890b08b282b685b285e7
https://doi.org/10.1002/j.2055-2335.2010.tb00515.x
https://doi.org/10.1002/j.2055-2335.2010.tb00515.x
Autor:
Erik W. Thompson, Ian G. Campbell, A. Connor, Wen Qiu, Robin L. Anderson, Louise H. Williams, C. Blancher, Christine S. F. Hooi, I. M. Revet, Marianne L. Ciavarella, Wayne A. Phillips
Publikováno v:
Oncogene. 25:3924-3933
Multiple lines of evidence have provided compelling evidence for the existence of a tumor suppressor gene (TSG) on chromosome 7q31.1. ST7 may be the target of this genetic instability but its designation as a TSG is controversial. In this study, we s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a68af9900e773f382352edeb691d892
https://doi.org/10.1038/sj.onc.1209418
https://doi.org/10.1038/sj.onc.1209418
Publikováno v:
Developmental Dynamics. 234:432-437
Mammalian sex determination relies on the expression of SRY, which triggers a tightly regulated cascade of gene expression leading to male differentiation. Many elements of this pathway remain to be identified. Here, we characterise Annexin XI (Anxa1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::106bd7def82d80e02d782601657b0290
https://doi.org/10.1002/dvdy.20548
https://doi.org/10.1002/dvdy.20548
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e74243 (2013)
PLoS ONE
PLoS ONE
Animal models that recapitulate human disease are proving to be an invaluable tool in the identification of novel disease-associated genes. These models can improve our understanding of the complex genetic mechanisms involved in disease and provide a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07eb1a4332a36ce4997d95916dcf8218
http://europepmc.org/articles/PMC3781070?pdf=render
http://europepmc.org/articles/PMC3781070?pdf=render