An atypical mutation in the activin a receptor, type 1 gene (ACVR1) in a severely affected Fibrodysplasia Ossificans Progressiva patient

An atypical mutation in the activin a receptor, type 1 gene (ACVR1) in a severely affected Fibrodysplasia Ossificans Progressiva patient

Podrobná bibliografie
Hlavní autoři:	Petrie, K, Pointon, J, Smith, R, Russell, R, Wordsworth, P, Triffitt, J
Médium:	Conference item
Vydáno:	2007

Podobné jednotky

Identification of a novel mutation in activin receptor type 1 (ACVR1) in a fibrodysplasia ossificans progressiva (FOP) patient
Autor: Petrie, K, a další
Vydáno: (2007)

Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.
Autor: Petrie, K, a další
Vydáno: (2009)

Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.
Autor: Petrie, K, a další
Vydáno: (2009)

Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.
Autor: Kirsten A Petrie, a další
Vydáno: (2009-01-01)

ACVR1 mutation and Fibrodysplasia Ossificans Progressiva in Chinese children
Autor: Ng Bobby KW, a další
Vydáno: (2011-09-01)

Mutation Detection in Activin A Receptor, Type I (ACVR1) Gene in Fibrodysplasia Ossificans Progressiva in An Iranian Family
Autor: Ziba Morovvati, a další
Vydáno: (2014-03-01)

Genomic Context and Mechanisms of the <i>ACVR1</i> Mutation in Fibrodysplasia Ossificans Progressiva
Autor: Roberto Ravazzolo, a další
Vydáno: (2021-02-01)

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
Autor: Shore, E, a další
Vydáno: (2006)

Characterization of Fibrodysplasia Ossificans Progessiva relevant Acvr1/Acvr2 Activin receptors in medaka (Oryzias latipes).
Autor: Michael Trumpp, a další
Vydáno: (2023-01-01)

Characterization of Fibrodysplasia Ossificans Progessiva relevant Acvr1/Acvr2 Activin receptors in medaka (Oryzias latipes)
Autor: Michael Trumpp, a další
Vydáno: (2023-01-01)

AAV-Mediated Targeting of the Activin A-ACVR1<sup>R206H</sup> Signaling in Fibrodysplasia Ossificans Progressiva
Autor: Yeon-Suk Yang, a další
Vydáno: (2023-09-01)

Fibrodysplasia ossificans progressiva mutant ACVR1 signals by multiple modalities in the developing zebrafish
Autor: Robyn S Allen, a další
Vydáno: (2020-09-01)

Anti-ACVR1 antibodies exacerbate heterotopic ossification in fibrodysplasia ossificans progressiva (FOP) by activating FOP-mutant ACVR1
Autor: Senem Aykul, a další
Vydáno: (2022-06-01)

A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date
Autor: Gregson, C, a další
Vydáno: (2011)

A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date.
Autor: Gregson, C, a další
Vydáno: (2011)

A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date.
Autor: Gregson, C, a další
Vydáno: (2011)

ABNORMAL BONE FORMATION IN ANKYLOSING SPONDYLITIS: WHAT CAN WE LEARN FROM ACVR1 AND FIBRODYSPLASIA OSSIFICANS PROGRESSIVA?
Autor: Cain, P, a další
Vydáno: (2010)

A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene
Autor: Serena Cappato, a další
Vydáno: (2021-10-01)

An Activin Receptor IA/Activin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans Progressiva
Autor: Rafael Herrera-Esparza, a další
Vydáno: (2013-01-01)

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Autor: Mehul M Gosai, a další
Vydáno: (2013-03-01)

Fibrodysplasia ossificans progressiva
Autor: Chané Smit, a další
Vydáno: (2023-11-01)

Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva.
Autor: Virdi, A, a další
Vydáno: (1999)

High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva
Autor: Serena Cappato, a další
Vydáno: (2016-06-01)

How Activin A Became a Therapeutic Target in Fibrodysplasia Ossificans Progressiva
Autor: Dushyanth Srinivasan, a další
Vydáno: (2024-01-01)

Activin-dependent signaling in fibro/adipogenic progenitors causes fibrodysplasia ossificans progressiva
Autor: John B. Lees-Shepard, a další
Vydáno: (2018-02-01)

Fibrodysplasia ossificans progressiva: Lumps, bumps and biologics
Autor: Atukorala, I, a další
Vydáno: (2007)

An anti-ACVR1 antibody exacerbates heterotopic ossification by fibro-adipogenic progenitors in fibrodysplasia ossificans progressiva mice
Autor: John B. Lees-Shepard, a další
Vydáno: (2022-06-01)

Response to "Mutations of the NOGGIN and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)" by Lucotte et al.
Autor: Kaplan, F, a další
Vydáno: (2008)

Correction: High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva
Autor: Serena Cappato, a další
Vydáno: (2016-09-01)

Lymphoblastoid cells in fibrodysplasia ossificans progressiva - Do they play a role?
Autor: Cohen, T, a další
Vydáno: (2004)

Erratum: A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva (Nature Genetics (2006) 38, (525-527))
Autor: Shore, E, a další
Vydáno: (2007)

Fibrodysplasia Ossificans Progressiva: Case Report
Autor: Enver Şimşek, a další
Vydáno: (2015-12-01)

The Fibrodysplasia Ossificans Progressiva and Bone Scintigraphy
Autor: Sofia CHKIKAR, a další
Vydáno: (2024-04-01)

Immunologic Aspects in Fibrodysplasia Ossificans Progressiva
Autor: Anastasia Diolintzi, a další
Vydáno: (2024-03-01)

Recent Topics in Fibrodysplasia Ossificans Progressiva
Autor: Takenobu Katagiri, a další
Vydáno: (2018-09-01)

Fibrodysplasia ossificans progressiva: case report
Autor: ANAMARLI NUCCI, a další
Vydáno: (2000-06-01)

Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects
Autor: Pignolo Robert J, a další
Vydáno: (2011-12-01)

Late-onset fibrodysplasia ossificans progressiva with atypical presentation: A case report
Autor: Conor M. Cunningham, a další
Vydáno: (2019-07-01)

Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of Literature
Autor: Mohammad Al-Haggar, a další
Vydáno: (2013-01-01)

Investigation of kinase activation in fibrodysplasia ossificans progressiva
Autor: Sanvitale, CE
Vydáno: (2014)