Výsledky vyhledávání - "Philippa A. Dryland"

Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity

Autor: Jackie Crawford, Jonathan R. Skinner, Stella W.S. Lai, Donald R. Love, Debra O. Prosser, Ivone U. S. Leong, Mandy Graham, Philippa A. Dryland, Martin K. Stiles

Publikováno v: Journal of Clinical Medicine Research. 9:709-718

Background: Approximately 75% of clinically definite long QT syndrome (LQTS) cases are caused by mutations in the KCNQ1 , KCNH2 and SCN5A genes. Of these mutations, a small proportion (3.2-9.2%) are predicted to affect splicing. These mutations prese

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::13b4c5d5802e30f88fb40eb016c594ad
https://doi.org/10.14740/jocmr2894w

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Myotonic Dystrophy: Accurately Scoring the Boundaries that Define Regions of Triplet Repeat Expansion Mutations

Autor: Zhu DanQing, Han DugYeo, Donald R. Love, K. Hughes, A. Aziz, Elaine Doherty, Philippa A. Dryland

Publikováno v: British Journal of Medicine and Medical Research. 8:724-731

Aims: Myotonic Dystrophy type 1 (DM1) is an autosomal dominant neuromuscular multi-systemic disorder caused by a CTG triplet repeat expansion mutation in the DMPK gene. The clinical decision points defining the CTG repeat boundaries between normal, p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1629b0ba8033d655de471808da4dc074
https://doi.org/10.9734/bjmmr/2015/18303

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Simple Repeat-Primed PCR Analysis of the Myotonic Dystrophy Type 1 Gene in a Clinical Diagnostics Environment

Autor: Jennifer M. Love, Donald R. Love, Elaine Doherty, Philippa A. Dryland

Publikováno v: Journal of Neurodegenerative Diseases

Myotonic dystrophy type 1 is an autosomal dominant neuromuscular disorder that is caused by the expansion of a CTG trinucleotide repeat in the DMPK gene. The confirmation of a clinical diagnosis of DM-1 usually involves PCR amplification of the CTG r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4bdd811f773224522d6677e5534cf75
https://doi.org/10.1155/2013/857564

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Splice Site Variants in the

Autor: Ivone U S, Leong, Philippa A, Dryland, Debra O, Prosser, Stella W-S, Lai, Mandy, Graham, Martin, Stiles, Jackie, Crawford, Jonathan R, Skinner, Donald R, Love

Publikováno v: Journal of Clinical Medicine Research

Background Approximately 75% of clinically definite long QT syndrome (LQTS) cases are caused by mutations in the KCNQ1, KCNH2 and SCN5A genes. Of these mutations, a small proportion (3.2-9.2%) are predicted to affect splicing. These mutations present

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2164783a58df4e552fe8fc47fa47f545
https://pubmed.ncbi.nlm.nih.gov/28725320

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Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia

Autor: Jennifer M. Love, Debra O. Prosser, Shanti Balasubramaniam, Philippa A. Dryland, Sarah L. Nickerson, Maina P Kava, Donald R. Love

Nonketotic hyperglycinemia, also known as glycine encephalopathy (OMIM #605899), is an autosomal recessive disorder of glycine metabolism resulting from a defect in the glycine cleavage system. We report two novel mutations of the glycine decarboxyla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::becf6447818d7bc35efe93ed6eecff6a
https://europepmc.org/articles/PMC4999328/

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Allantoin as A Biomarker of Inflammation in an Inflammatory Bowel Disease Mouse Model: NMR Analysis of Urine

Autor: Brent R. Copp, Yvonne E.M. Dommels, Philippa A. Dryland, Nicole C. Roy, Daryl D. Rowan, Brian L. Browning, Nuala A. Helsby, Shuotun Zhu, Donald R. Love, Michael F. Walker, Christine A. Butts, Lynnette R. Ferguson

Publikováno v: The Open Bioactive Compounds Journal. 1:1-6

Crohn's disease (CD) is an Inflammatory Bowel Disease (IBD) that is characterised by destructive inflamma- tion of the intestinal wall. Current methods for determining inflammation of the bowel are costly, time consuming and can cause discomfort to t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::15a6ca9fbb6a3fb209b6ed5a2cc605d4
https://doi.org/10.2174/1874847300801010001

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Nutrigenomics in the whole-genome scanning era: Crohn’s disease as example

Autor: Philippa A. Dryland, Lynnette R. Ferguson, Martin Philpott

Publikováno v: Cellular and Molecular Life Sciences. 64:3105-3118

Nutrigenomics has the potential to tailor diets to optimize health, based on knowledge of key genetic polymorphisms. Identification of candidate genes is often based on a priori knowledge of disease processes. However, genome-wide association methods

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::527478ffdc81ecba04e617b384100dc5
https://doi.org/10.1007/s00018-007-7303-8

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Environmental factors in the development of chronic inflammation: a case-control study on risk factors for Crohn's disease within New Zealand

Autor: Dug Yeo Han, Philippa A. Dryland, Alan G. Fraser, Lynnette R. Ferguson

Publikováno v: Mutation research. 690(1-2)

The role of environmental factors in the risk for Crohn's disease (CD), an inflammatory bowel disease (IBD), was investigated in a North Island-based New Zealand case-control cohort. A total of 315 CD patients and 536 controls were recruited through

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49ac6c5e9f5cbe214b66aa064b873694
https://pubmed.ncbi.nlm.nih.gov/19751746

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