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Literature DB >> 28476747

A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2.

Alessia Pagani^1,2, Silvia Colucci^1,2, Renata Bocciardi^3,4, Marta Bertamino⁵, Carlo Dufour⁶, Roberto Ravazzolo^3,4, Laura Silvestri^1,2, Clara Camaschella^1,2.

Abstract

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Year: 2017 PMID： 28476747 PMCID： PMC5659816 DOI： 10.1182/blood-2017-03-773481

Source DB: PubMed Journal: Blood ISSN： 0006-4971 Impact factor: 22.113

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21 in total

1. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.

Authors: Eileen M Shore; Meiqi Xu; George J Feldman; David A Fenstermacher; Tae-Joon Cho; In Ho Choi; J Michael Connor; Patricia Delai; David L Glaser; Martine LeMerrer; Rolf Morhart; John G Rogers; Roger Smith; James T Triffitt; J Andoni Urtizberea; Michael Zasloff; Matthew A Brown; Frederick S Kaplan
Journal: Nat Genet Date: 2006-04-23 Impact factor: 38.330

2. Two tissue-resident progenitor lineages drive distinct phenotypes of heterotopic ossification.

Authors: Devaveena Dey; Jana Bagarova; Sarah J Hatsell; Kelli A Armstrong; Lily Huang; Joerg Ermann; Ashley J Vonner; Yue Shen; Agustin H Mohedas; Arthur Lee; Elisabeth M W Eekhoff; Annelies van Schie; Marie B Demay; Charles Keller; Amy J Wagers; Aris N Economides; Paul B Yu
Journal: Sci Transl Med Date: 2016-11-23 Impact factor: 17.956

3. Neofunction of ACVR1 in fibrodysplasia ossificans progressiva.

Authors: Kyosuke Hino; Makoto Ikeya; Kazuhiko Horigome; Yoshihisa Matsumoto; Hayao Ebise; Megumi Nishio; Kazuya Sekiguchi; Mitsuaki Shibata; Sanae Nagata; Shuichi Matsuda; Junya Toguchida
Journal: Proc Natl Acad Sci U S A Date: 2015-11-30 Impact factor: 11.205

4. Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression.

Authors: Jodie L Babitt; Franklin W Huang; Diedra M Wrighting; Yin Xia; Yisrael Sidis; Tarek A Samad; Jason A Campagna; Raymond T Chung; Alan L Schneyer; Clifford J Woolf; Nancy C Andrews; Herbert Y Lin
Journal: Nat Genet Date: 2006-04-09 Impact factor: 38.330

5. Perturbation of hepcidin expression by BMP type I receptor deletion induces iron overload in mice.

Authors: Andrea U Steinbicker; Thomas B Bartnikas; Lisa K Lohmeyer; Patricio Leyton; Claire Mayeur; Sonya M Kao; Alexandra E Pappas; Randall T Peterson; Donald B Bloch; Paul B Yu; Mark D Fleming; Kenneth D Bloch
Journal: Blood Date: 2011-08-12 Impact factor: 22.113

6. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

Authors: Frederick S Kaplan; Meiqi Xu; Petra Seemann; J Michael Connor; David L Glaser; Liam Carroll; Patricia Delai; Elisabeth Fastnacht-Urban; Stephen J Forman; Gabriele Gillessen-Kaesbach; Julie Hoover-Fong; Bernhard Köster; Richard M Pauli; William Reardon; Syed-Adeel Zaidi; Michael Zasloff; Rolf Morhart; Stefan Mundlos; Jay Groppe; Eileen M Shore
Journal: Hum Mutat Date: 2009-03 Impact factor: 4.878

7. ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A.

Authors: Sarah J Hatsell; Vincent Idone; Dana M Alessi Wolken; Lily Huang; Hyon J Kim; Lili Wang; Xialing Wen; Kalyan C Nannuru; Johanna Jimenez; Liqin Xie; Nanditha Das; Genevieve Makhoul; Rostislav Chernomorsky; David D'Ambrosio; Richard A Corpina; Christopher J Schoenherr; Kieran Feeley; Paul B Yu; George D Yancopoulos; Andrew J Murphy; Aris N Economides
Journal: Sci Transl Med Date: 2015-09-02 Impact factor: 17.956

Review 8. Smad-dependent and Smad-independent pathways in TGF-beta family signalling.

Authors: Rik Derynck; Ying E Zhang
Journal: Nature Date: 2003-10-09 Impact factor: 49.962

9. The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin.

Authors: Laura Silvestri; Alessia Pagani; Antonella Nai; Ivana De Domenico; Jerry Kaplan; Clara Camaschella
Journal: Cell Metab Date: 2008-10-30 Impact factor: 27.287

10. Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response.

Authors: Alessia Pagani; Laura Silvestri; Antonella Nai; Clara Camaschella
Journal: Haematologica Date: 2008-10 Impact factor: 9.941

7 in total

1. Matriptase-2 suppresses hepcidin expression by cleaving multiple components of the hepcidin induction pathway.

Authors: Mastura Wahedi; Aaron M Wortham; Mark D Kleven; Ningning Zhao; Shall Jue; Caroline A Enns; An-Sheng Zhang
Journal: J Biol Chem Date: 2017-09-18 Impact factor: 5.157

2. The immunophilin FKBP12 inhibits hepcidin expression by binding the BMP type I receptor ALK2 in hepatocytes.

Authors: Silvia Colucci; Alessia Pagani; Mariateresa Pettinato; Irene Artuso; Antonella Nai; Clara Camaschella; Laura Silvestri
Journal: Blood Date: 2017-09-01 Impact factor: 22.113

3. ALK3 undergoes ligand-independent homodimerization and BMP-induced heterodimerization with ALK2.

Authors: Lisa Traeger; Inka Gallitz; Rohit Sekhri; Nicole Bäumer; Tanja Kuhlmann; Claudia Kemming; Michael Holtkamp; Jennifer-Christin Müller; Uwe Karst; Francois Canonne-Hergaux; Martina U Muckenthaler; Donald B Bloch; Andrea Olschewski; Thomas B Bartnikas; Andrea U Steinbicker
Journal: Free Radic Biol Med Date: 2018-09-15 Impact factor: 7.376