Literature DB >> 12939652

Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism?

Karen T Barker1, Richard S Houlston.   

Abstract

Studies in drosophila and animal models have shown that the phosphoinositide-3-kinase (PI3-kinase) axis plays a central role in normal development, defining the number and size of cells in tissues. Dysfunction of this pathway leads to growth anomalies and has been established to play a key role in the pathogenesis of Cowden syndrome and tuberous sclerosis. It is probable that dysfunction of this pathway is the basis of other disorders especially those typified by asymmetric overgrowth.

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Year:  2003        PMID: 12939652     DOI: 10.1038/sj.ejhg.5201026

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  7 in total

1.  Excision of a large abdominal wall lipoma improved bowel passage in a Proteus syndrome patient.

Authors:  Yoshifumi Nakayama; Shinichi Kusuda; Naoki Nagata; Koji Yamaguchi
Journal:  World J Gastroenterol       Date:  2009-07-14       Impact factor: 5.742

Review 2.  Brain overgrowth in disorders of RTK-PI3K-AKT signaling: a mosaic of malformations.

Authors:  Robert F Hevner
Journal:  Semin Perinatol       Date:  2014-11-26       Impact factor: 3.300

3.  Clinical Profile of Overgrowth Syndromes Consistent with PROS (PIK3CA-Related Overgrowth Syndromes)-A Case Series.

Authors:  Lydia Mathew; Renu George; Sniya Sudhakar; Shyamkumar N Keshava; N A Fouzia
Journal:  Indian Dermatol Online J       Date:  2020-09-19

4.  Intestinal bleeding from arteriovenous malformations of the small bowel in a patient with Cowden syndrome: report of a case.

Authors:  Yoshifumi Nakayama; Jun Segawa; Kazufumi Sujita; Noritaka Minagawa; Takayuki Torigoe; Masanori Hisaoka; Koji Yamaguchi
Journal:  Surg Today       Date:  2012-12-18       Impact factor: 2.549

5.  PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.

Authors:  F A Arts; D Chand; C Pecquet; A I Velghe; S Constantinescu; B Hallberg; J-B Demoulin
Journal:  Oncogene       Date:  2015-10-12       Impact factor: 9.867

6.  Conditional Pten knockout in parvalbumin- or somatostatin-positive neurons sufficiently leads to autism-related behavioral phenotypes.

Authors:  Sangyep Shin; Andrea Santi; Shiyong Huang
Journal:  Mol Brain       Date:  2021-01-27       Impact factor: 4.041

Review 7.  Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestations.

Authors:  Letícia da Silva Lacerda; Ursula David Alves; José Fernando Cardona Zanier; Dequitier Carvalho Machado; Gustavo Bittencourt Camilo; Agnaldo José Lopes
Journal:  Radiol Res Pract       Date:  2014-06-09
  7 in total

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