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Literature DB >> 22585601

Mutations of SMAD4 account for both LAPS and Myhre syndromes.

Noralane M Lindor, Shanaka R Gunawardena, Stephen N Thibodeau.

Abstract

Entities: Gene Mutation

Mesh：

Substances：
Smad4 Protein

Year: 2012 PMID： 22585601 DOI： 10.1002/ajmg.a.35374

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

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Cited

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7 in total

1. Natural history and life-threatening complications in Myhre syndrome and review of the literature.

Authors: Livia Garavelli; Ilenia Maini; Federica Baccilieri; Ivan Ivanovski; Marzia Pollazzon; Simonetta Rosato; Lorenzo Iughetti; Sheila Unger; Andrea Superti-Furga; Marco Tartaglia
Journal: Eur J Pediatr Date: 2016-08-25 Impact factor: 3.183

2. Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

Authors: Caroline Michot; Carine Le Goff; Clémentine Mahaut; Alexandra Afenjar; Alice S Brooks; Philippe M Campeau; Anne Destree; Maja Di Rocco; Dian Donnai; Raoul Hennekam; Delphine Heron; Sébastien Jacquemont; Peter Kannu; Angela E Lin; Sylvie Manouvrier-Hanu; Sahar Mansour; Sandrine Marlin; Ruth McGowan; Helen Murphy; Annick Raas-Rothschild; Marlène Rio; Marleen Simon; Irene Stolte-Dijkstra; James R Stone; Yves Sznajer; John Tolmie; Renaud Touraine; Jenneke van den Ende; Nathalie Van der Aa; Ton van Essen; Alain Verloes; Arnold Munnich; Valérie Cormier-Daire
Journal: Eur J Hum Genet Date: 2014-01-15 Impact factor: 4.246

3. SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Authors: Pasquale Piccolo; Pratibha Mithbaokar; Valeria Sabatino; John Tolmie; Daniela Melis; Maria Cristina Schiaffino; Mirella Filocamo; Generoso Andria; Nicola Brunetti-Pierri
Journal: Eur J Hum Genet Date: 2014-01-08 Impact factor: 4.246

4. SMAD3 and SMAD4 have a more dominant role than SMAD2 in TGFβ-induced chondrogenic differentiation of bone marrow-derived mesenchymal stem cells.

Authors: Laurie M G de Kroon; Roberto Narcisi; Guus G H van den Akker; Elly L Vitters; Esmeralda N Blaney Davidson; Gerjo J V M van Osch; Peter M van der Kraan
Journal: Sci Rep Date: 2017-02-27 Impact factor: 4.379

Mutations of SMAD4 account for both LAPS and Myhre syndromes.

1. Natural history and life-threatening complications in Myhre syndrome and review of the literature.

2. Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

3. SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

4. SMAD3 and SMAD4 have a more dominant role than SMAD2 in TGFβ-induced chondrogenic differentiation of bone marrow-derived mesenchymal stem cells.

Review 5. The Ubiquitin System: a Regulatory Hub for Intellectual Disability and Autism Spectrum Disorder.

6. Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome.

Review 7. TGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease.