Výsledky vyhledávání - "Vicky, Newsway"

A Novel Dysfunctional Growth Hormone Variant (Ile179Met) Exhibits a Decreased Ability to Activate the Extracellular Signal-Regulated Kinase Pathway

Autor: T Easter, M. D. Lewis, Juan Pedro López-Siguero, David Neil Cooper, David Stuart Millar, Nieves Díaz-Torrado, Annie M. Procter, Linda Fryklund, John Gregory, Luis Fernando López-Canti, Rafael Espino, Cristóbal-Jorge Del Valle, Vicky Newsway, Maurice F. Scanlon, Martin Horan, Ramón Cañete, Martin Norin, Angels Ulied

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 89:1068-1075

The pituitary-expressed GH1 gene was screened for mutation in a group of 74 children with familial short stature. Two novel mutations were identified: an Ile179Met substitution and a −360A→G promoter variant. The Ile179Met variant was shown to ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::508bfa8233face2a1a5189fdf12a8091
https://doi.org/10.1210/jc.2003-030652

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Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population

Autor: Guglielmina Pepe, D. Aled Rees, David Neil Cooper, T Easter, Martin Norin, Maurice F. Scanlon, David Stuart Millar, Olga Rickards, Vicky Newsway, Michael Krawczak, M. D. Lewis, Martin Horan

Publikováno v: Molecular and Cellular Endocrinology
Molecular and Cellular Endocrinology, Elsevier, 2008, 296 (1-2), pp.18. ⟨10.1016/j.mce.2008.09.023⟩

Among Europeans, functionally significant GH1 gene variants occur not only in individuals with idiopathic growth hormone (GH) deficiency and/or short stature but also fairly frequently in the general population. To assess the generality of these find

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7244ae8049b49bbaa8774bac41b06ebf
https://pubmed.ncbi.nlm.nih.gov/18950677

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Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke

Autor: Philip M.W. Bath, John R. Cockcroft, Yasmin, David Stuart Millar, Annie M. Procter, Ian B. Wilkinson, David Neil Cooper, Arti Mahto, M. D. Lewis, Martin Horan, T Easter, Michael Krawczak, Maurice F. Scanlon, Amanda Wheatley, Vicky Newsway, D. Aled Rees, Ian P. Hall, John D Blakey

Publikováno v: Human genetics. 119(5)

An increased prevalence of both hypertension and cerebrovascular stroke is apparent in growth hormone (GH) deficiency whilst hypertension is a frequent complication in acromegaly. This has suggested a possible link between GH, stature and arterial fu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e4b89db1434eec2bcd9ed437e2db606
https://pubmed.ncbi.nlm.nih.gov/16572267

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Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region

Autor: Geraint F. Lewis, Michael Krawczak, Jürgen Hedderich, Linda Fryklund, David Neil Cooper, David Stuart Millar, Vicky Newsway, Neil Mo, Annie M. Procter, Martin Horan

Publikováno v: Human mutation. 21(4)

The proximal promoter region of the human pituitary expressed growth hormone (GH1) gene is highly polymorphic, containing at least 15 single nucleotide polymorphisms (SNPs). This variation is manifest in 40 different haplotypes, the high diversity be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1941400d4196d881a8dde5e8d5d0304d
https://pubmed.ncbi.nlm.nih.gov/12655556

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