Results 11 to 20 of about 402,657 (223)

Genetic dissection of differential signaling threshold requirements for the Wnt/beta-catenin pathway in vivo. [PDF]

PLoS Genetics, 2010
Contributions of null and hypomorphic alleles of Apc in mice produce both developmental and pathophysiological phenotypes. To ascribe the resulting genotype-to-phenotype relationship unambiguously to the Wnt/beta-catenin pathway, we challenged the allele
Michael Buchert, Dimitris Athineos, Helen E Abud, Zoe D Burke, Maree C Faux, Michael S Samuel, Andrew G Jarnicki, Catherine E Winbanks, Ian P Newton, Valerie S Meniel, Hiromu Suzuki, Steven A Stacker, Inke S Näthke, David Tosh, Joerg Huelsken, Alan R Clarke, Joan K Heath, Owen J Sansom, Matthias Ernst   +18 more
doaj   +3 more sources

Dysbiosis-Associated Polyposis of the Colon—Cap Polyposis

Frontiers in Immunology, 2018
Cap polyposis is a rare gastrointestinal disease characterized by multiple inflammatory polyps located between the distal colon and the rectum. Despite the lack of clarity regarding its pathogenesis, mucosal prolapse, chronic inflammatory responses, and ...
Kazuki Okamoto, Tomohiro Watanabe, Yoriaki Komeda, Ayana Okamoto, Kosuke Minaga, Ken Kamata, Kentaro Yamao, Mamoru Takenaka, Satoru Hagiwara, Toshiharu Sakurai, Tomonori Tanaka, Hiroki Sakamoto, Kiyoshige Fujimoto, Naoshi Nishida, Masatoshi Kudo   +14 more
doaj   +2 more sources

Diffuse Symptomatic Familial Gastric Polyposis Requiring Total Gastrectomy: A Complex Case Report [PDF]

Reports
Background and Clinical Significance: Familial gastric polyposis is a rare condition associated with an increased risk of malignant transformation, particularly in patients with a strong family history of gastrointestinal malignancies. Case Presentation:
Ivan Pesic, Ilija Golubovic, Milorad Pavlovic, Milica Nestorovic, Ivan Ilic   +4 more
doaj   +2 more sources

Clinical and genetic features of pediatric hereditary polyposis syndromes in Israel: A nationwide multicenter cohort. [PDF]

J Pediatr Gastroenterol Nutr
Abstract Objectives Hereditary polyposis syndromes in children are rare, heterogeneous disorders associated with significant morbidity and long‐term risk of malignancy. Current data on their presentation, management, and outcomes in pediatric populations remain limited.
Cohen S, Cozacov T, Weintraub I, Shaoul R, Ledder O, Yogev D, Slae M, Egbarieh R, Ling G, Yerushalmy-Feler A.   +9 more
europepmc   +2 more sources

Therapeutic Balloon‐Assisted Enteroscopy: Recent Advances in the Management of Small Bowel Diseases [PDF]

DEN Open
ABSTRACT Balloon‐assisted enteroscopy (BAE) has substantially advanced small bowel disease management. This review summarizes recent therapeutic BAE advances, focusing on three major indications: small bowel vascular lesions, hereditary polyposis syndromes, and Crohn's disease (CD).
Nagayama M, Kinoshita T, Kawaguchi H, Fujinuma T, Fujikura S, Hayashi H, Tamaru T, Sakamoto H, Yano T.   +8 more
europepmc   +2 more sources

Peutz-Jeghers Syndrome without Polyposis [PDF]

Canadian Journal of Gastroenterology, 1988
Peutz-Jeghers syndrome is generally considered a condition in which familial gastrointestinal polyposis is associated with a characteristic pigmentation of the skin and mucous membranes Two members of a family in which the characteristic pigmentation was
Anthony G. Catto-Smith, Mark K. Patrick, D. Grant Gall   +2 more
doaj   +2 more sources

Outcomes of 'in-house' genetic testing within a specialist hereditary colorectal cancer registry. [PDF]

Colorectal Dis
Abstract Aims Approximately 5%–10% of colorectal cancer (CRC) cases are due to known Mendelian syndromes. This study aimed to report the diagnostic yield of constitutional genetic testing, alongside clinicopathological factors for hereditary CRC, within a specialised National Bowel Hospital, and outside traditional genetics referral pathways.
Srisuttayasathien M, Cuthill V, Hawkins M, Sinha A, Clark S, Latchford A, Monahan KJ.   +6 more
europepmc   +2 more sources

Mapping Genetic Modifiers of Polyp Formation in Smad4-Deficient Juvenile Polyposis Using the Collaborative Cross Mouse Population [PDF]

Cells
Juvenile Polyposis Syndrome (JPS) is an autosomal dominant disorder characterized by multiple gastrointestinal polyps and an increased risk of cancer, most commonly associated with mutations in the tumor suppressor gene Smad4.
Osayd Zohud, Kreem Midlej, Iqbal M. Lone, Aysar Nashef, Imad Abu-Elnaaj, Fuad A. Iraqi   +5 more
doaj   +2 more sources

A Rare Cause of Intestinal Polyposis. [PDF]

Dtsch Arztebl Int, 2019
Keim VJ, Goßner L.
europepmc   +4 more sources

Càncer colorectal hereditari: Aplicacions diagnòstiques de l'estudi de la dosi dels gens APC, MLH1 i MSH2 [PDF]

, 2009
[cat] Les síndromes de càncer colorectal (CCR) hereditari representen entre un 3% i un 5% de tots els casos de CCR i inclouen tots aquells individus amb un elevat grau d'agregació familiar.
Castellsagué Torrents, Ester
core   +6 more sources