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

מידע ביבליוגרפי
Main Authors:	Petrie, K, Pointon, J, Smith, R, Russell, R, Wordsworth, P, Triffitt, J
פורמט:	Conference item
יצא לאור:	2007

פריטים דומים

Identification of a novel mutation in activin receptor type 1 (ACVR1) in a fibrodysplasia ossificans progressiva (FOP) patient
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יצא לאור: (2007)

Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.
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יצא לאור: (2009)

Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.
מאת: Petrie, K, et al.
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ACVR1 mutation and Fibrodysplasia Ossificans Progressiva in Chinese children
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Mutation Detection in Activin A Receptor, Type I (ACVR1) Gene in Fibrodysplasia Ossificans Progressiva in An Iranian Family
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יצא לאור: (2014-03-01)

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
מאת: Shore, E, et al.
יצא לאור: (2006)

Genomic Context and Mechanisms of the <i>ACVR1</i> Mutation in Fibrodysplasia Ossificans Progressiva
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Characterization of Fibrodysplasia Ossificans Progessiva relevant Acvr1/Acvr2 Activin receptors in medaka (Oryzias latipes).
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יצא לאור: (2023-01-01)

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AAV-Mediated Targeting of the Activin A-ACVR1<sup>R206H</sup> Signaling in Fibrodysplasia Ossificans Progressiva
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Fibrodysplasia ossificans progressiva mutant ACVR1 signals by multiple modalities in the developing zebrafish
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יצא לאור: (2020-09-01)

An Activin Receptor IA/Activin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans Progressiva
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יצא לאור: (2013-01-01)

Anti-ACVR1 antibodies exacerbate heterotopic ossification in fibrodysplasia ossificans progressiva (FOP) by activating FOP-mutant ACVR1
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יצא לאור: (2022-06-01)

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מאת: Gregson, C, et al.
יצא לאור: (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.
מאת: Gregson, C, et al.
יצא לאור: (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.
מאת: Gregson, C, et al.
יצא לאור: (2011)

ABNORMAL BONE FORMATION IN ANKYLOSING SPONDYLITIS: WHAT CAN WE LEARN FROM ACVR1 AND FIBRODYSPLASIA OSSIFICANS PROGRESSIVA?
מאת: Cain, P, et al.
יצא לאור: (2010)

A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene
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יצא לאור: (2021-10-01)

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Fibrodysplasia ossificans progressiva
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יצא לאור: (2023-11-01)

Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva.
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יצא לאור: (1999)

Response to "Mutations of the NOGGIN and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)" by Lucotte et al.
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יצא לאור: (2008)

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Activin-dependent signaling in fibro/adipogenic progenitors causes fibrodysplasia ossificans progressiva
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An anti-ACVR1 antibody exacerbates heterotopic ossification by fibro-adipogenic progenitors in fibrodysplasia ossificans progressiva mice
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יצא לאור: (2022-06-01)

Correction: High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva
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יצא לאור: (2016-09-01)

Erratum: A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva (Nature Genetics (2006) 38, (525-527))
מאת: Shore, E, et al.
יצא לאור: (2007)

Lymphoblastoid cells in fibrodysplasia ossificans progressiva - Do they play a role?
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Late-onset fibrodysplasia ossificans progressiva with atypical presentation: A case report
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Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of Literature
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