Výsledky vyhledávání - "Kelly Woodford-Richens"

Comprehensive Analysis of SMAD4 Mutations and Protein Expression in Juvenile Polyposis

Autor: Kelly Woodford-Richens, Stephen Bevan, Lauri A. Aaltonen, Nicholas A. Wright, Richard S. Houlston, Richard Poulsom, Andrew Rowan, Reijo Salovaara, Ian Tomlinson

Publikováno v: The American Journal of Pathology. 159:1293-1300

Juvenile polyposis syndrome (JPS; OMIM 174900) is a rare disorder which is characterized by the presence of hamartomatous polyps throughout the gastrointestinal tract and an increased risk of gastrointestinal malignancy. Mutations of the SMAD4 gene o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d2b026d02678ce36ed707e09eeb03a8d
https://doi.org/10.1016/s0002-9440(10)62516-3

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A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene?

Autor: Lara Lipton, Emma Jaeger, Kelly Woodford-Richens, Kimberley Howarth, Ian Tomlinson, Elizabeth Chow, Luis G. Carvajal-Carmona, Prithi S. Bhathal, Gurjeet Kaur, Gordon Arthur, Finlay A. Macrae

Publikováno v: Journal of gastroenterology and hepatology. 22(12)

Background and Aim: Familial juvenile polyposis syndrome (JPS) is a rare autosomal dominant condition in which patients develop hamartomatous gastrointestinal polyps with malignant potential. Pathogenic germline mutations in both the SMAD4 and BMPR1A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e272d6925b64387ff33eff96f2af9206
https://pubmed.ncbi.nlm.nih.gov/17573831

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SMAD4 mutations in colorectal cancer probably occur before chromosomal instability, but after divergence of the microsatellite instability pathway

Autor: Andrew Rowan, Harpreet Wasan, Kelly Woodford-Richens, Rebecca Roylance, Patricia Gorman, Sarah Halford, I. P. M. Tomlinson, Walter F. Bodmer, David C. Bicknell

Publikováno v: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 98(17)

Loss of chromosome 18q21 is well documented in colorectal cancer, and it has been suggested that this loss targets the DCC , DPC4 / SMAD4 , and SMAD2 genes. Recently, the importance of SMAD4 , a downstream regulator in the TGF-β signaling pathway, i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27760ba8dd1fd48cda67e892695a3f23
http://ora.ox.ac.uk/objects/uuid:8fe49cce-ed77-4725-bca8-483177370d69

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Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes

Publikováno v: University of Helsinki

Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were identified, JPS could easily be confused with other inher

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eaf31b175e95a29824f8145225a5f2c
https://pubmed.ncbi.nlm.nih.gov/11536076

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CDX2 mutations do not account for juvenile polyposis or Peutz-Jeghers syndrome and occur infrequently in sporadic colorectal cancers

Autor: Andrew D. Rowan, S Halford, David C. Bicknell, Harpreet Wasan, Richard S. Houlston, I. P. M. Tomlinson, Walter F. Bodmer, Lauri A. Aaltonen, Kelly Woodford-Richens, Steve Bevan

Publikováno v: British Journal of Cancer

Peutz–Jeghers syndrome (PJS) and juvenile polyposis (JPS) are both characterized by the presence of hamartomatous polyps and increased risk of malignancy in the gastrointestinal tract. Mutations of the LKB1 and SMAD4 genes have been shown recently

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe0b05b5abd92418f75ad49702892f61
http://ora.ox.ac.uk/objects/uuid:f4bdba10-e4ca-445c-8cbd-a40ee00ea08b

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Analysis of genetic and phenotypic heterogeneity in juvenile polyposis

Publikováno v: Gut. 46(5)

BACKGROUND—Juvenile polyposis syndrome (JPS) is characterised by gastrointestinal (GI) hamartomatous polyposis and an increased risk of GI malignancy. Juvenile polyps also occur in the Cowden (CS), Bannayan-Ruvalcaba-Riley (BRRS) and Gorlin (GS) sy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87398d71d56761016443d1469e2ae532
http://ora.ox.ac.uk/objects/uuid:992c369d-f4aa-4c95-bc7d-9ec7d6aa8ca6

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Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases

Autor: Malcolm G. Dunlop, Barbara A. Leggett, David Markie, Diana Eccles, Stephen Bevan, R. K. S. Phillips, Charis Eng, K Neale, Richard S. Houlston, Andrew Williams, Takeo Iwama, Miguel A. Rodriguez-Bigas, Kelly Woodford-Richens, Eamon Sheridan, Walter F. Bodmer, Joanne P. Young, Ian Tomlinson, Shirley Hodgson, Paul Rozen

Publikováno v: Human molecular genetics. 7(12)

Juvenile polyps are present in a number of Mendelian disorders, sometimes in association only with gastrointestinal cancer [juvenile polyposis syndrome (JPS)] and sometimes as part of known syndromes (Cowden, Gorlin and Banayan-Zonana) in association

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3666976865cb1bf19294f85ebbffc63d
http://ora.ox.ac.uk/objects/uuid:12885888-fcfa-4e5a-a503-a74939a2cb89

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Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome

Autor: Eammon Sheridan, Malcolm G. Dunlop, Barbara A. Leggett, Walter F. Bodmer, Joanne P. Young, K Neale, Richard S. Houlston, Ian Tomlinson, Charis Eng, David Markie, Steve Bevan, Shirley Hodgson, Kelly Woodford-Richens, Miguel A. Rodriguez-Bigas, Paul Rozen, R. K. S. Phillips, Takeo Iwama, D. Eccles

Publikováno v: ResearcherID
Scopus-Elsevier

BACKGROUND AND AIMSJuvenile polyps occur in several Mendelian disorders, whether in association with gastrointestinal cancer alone (juvenile polyposis syndrome, JPS) or as part of known syndromes (Cowden, Gorlin, and Bannayan-Zonana) in association w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d256bdf845106c7233f493198f1cca5
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000082203200022&KeyUID=WOS:000082203200022

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Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the 'multiple' adenoma phenotype

Autor: Kelly Woodford-Richens, Shirley Hodgson, Lara Lipton, Huw Thomas, Oliver M. Sieber, I. P. M. Tomlinson

Publikováno v: Scopus-Elsevier

The “multiple” colorectal adenoma phenotype is characterised by approximately 5–100 adenomatous polyps of the large bowel, resulting in an increased risk of colorectal cancer. The condition can be inherited as a Mendelian trait, either autosoma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e8a181bef7918b6529921072ab91a63
http://www.scopus.com/inward/record.url?eid=2-s2.0-0037387832&partnerID=MN8TOARS

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