Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family.

Kaplan, Frederick S.; McCluskey, William P.; Hahn, Gregory V.; Tabas, Jeffrey A.; Muenke, Maximilian; Zasloff, Michael

doi:10.2106/00004623-199308000-00011

Cited by 119 publications

(59 citation statements)

References 9 publications

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“…FOP is the most severe disorder of heterotopic ossification and results in the postnatal formation of an ectopic skeleton (Cohen et al 1993;Kaplan et al 1993Kaplan et al , 2004. Heterotopic ossification in FOP begins in childhood and can be induced most often by trauma.…”

Section: Introductionmentioning

confidence: 99%

“…Heterotopic ossification in FOP begins in childhood and can be induced most often by trauma. The ossification is episodic and progressive, leading to extra-articular ankylosis of all major joints of the axial and appendicular skeleton (Cohen et al 1993;Kaplan et al 1993Kaplan et al , 2004, rendering movement impossible. Congenital malformation of the great toes is common.…”

Section: Introductionmentioning

confidence: 99%

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The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva

et al. 2007

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Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations and presents progressive extra-skeletal ossification. The 617G>A (R206H) mutation in the activin receptor type IA (ACVR1) gene has been identified in all examined individuals with FOP of various ethnic groups, including Caucasian and Chinese descents. Here, we examined three Japanese patients with FOP for ACVR1 mutations. We identified the 617G>A mutation in all three patients. Our results suggest that the mutation in the ACVR1 gene is common and recurrent in the global population.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva

et al. 2007

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“…Yes, although rare, up to three successive generations of transmissions of FOP have been described. 20 …”

Section: Prenatal Diagnosis (To Be Answered If In 110 'D' Was Marked)mentioning

confidence: 99%

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva

et al. 2015

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“…5 Patients with classical FOP have congenital malformations that result in profoundly decreased mobility. 6,7 Recently, a recurrent heterozygous mutation in the ACVR1/ALK2 gene was identified by Shore et al 8 at 617 G-A, which causes an amino acid substitution of Arg to His at codon 206 (R206H) of the ALK2 receptor in both familial and sporadic patients with FOP. Because this mutation induced the activation of BMP constitutively, BMP inhibitors could offer therapeutic benefits for FOP.…”

Section: Introductionmentioning

confidence: 99%

Trichocyalides A and B, new inhibitors of alkaline phosphatase activity in bone morphogenetic protein-stimulated myoblasts, produced by Trichoderma sp. FKI-5513

et al. 2012

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Two new butenolides, designated trichocyalides A and B, were isolated along with the known compound harzianolide, from the culture broth of Trichoderma sp. FKI-5513 by solvent extraction, ODS column chromatography and HPLC. Their structures were elucidated by several spectral analyses, showing that they have the common skeleton of butenofuranone. Trichocyalides A and B inhibited alkaline phosphatase (ALP) activity, a typical marker enzyme of osteoblastic differentiation (IC 50 : 83.0 and 187 lM, respectively), in bone morphogenetic protein (BMP)-stimulated C2C12 myoblasts mutant cells, which stably express BMP receptor activity, whereas harzianolide showed no inhibitory activity against ALP even at 500 lM.

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Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family.

Cited by 119 publications

References 9 publications

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva

Trichocyalides A and B, new inhibitors of alkaline phosphatase activity in bone morphogenetic protein-stimulated myoblasts, produced by Trichoderma sp. FKI-5513

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