Fibrodysplasia ossificans progressiva

FS Kaplan, M Le Merrer, DL Glaser, RJ Pignolo… - Best practice & research …, 2008 - Elsevier
Fibrodysplasia ossificans progressiva (FOP), a rare and disabling genetic condition of
congenital skeletal malformations and progressive heterotopic ossification (HO), is the most …

Fibrodysplasia ossificans progressiva: clinical and genetic aspects

RJ Pignolo, EM Shore, FS Kaplan - Orphanet journal of rare diseases, 2011 - Springer
Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of
connective tissue characterized by congenital malformations of the great toes and …

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

FS Kaplan, M Xu, P Seemann, JM Connor… - Human …, 2009 - Wiley Online Library
Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant human disorder of
bone formation that causes developmental skeletal defects and extensive debilitating bone …

Inherited human diseases of heterotopic bone formation

EM Shore, FS Kaplan - Nature Reviews Rheumatology, 2010 - nature.com
Human disorders of hereditary and nonhereditary heterotopic ossification are conditions in
which osteogenesis occurs outside of the skeleton, within soft tissues of the body. The …

[HTML][HTML] Fibrodysplasia ossificans progressiva: diagnosis, management, and therapeutic horizons

RJ Pignolo, EM Shore, FS Kaplan - … endocrinology reviews: PER, 2013 - ncbi.nlm.nih.gov
Fibrodysplasia ossificans progressiva (FOP), a rare and disabling genetic condition
characterized by congenital malformations of the great toes and progressive heterotopic …

An Acvr1 R206H knock‐in mouse has fibrodysplasia ossificans progressiva

SA Chakkalakal, D Zhang, AL Culbert… - Journal of bone and …, 2012 - academic.oup.com
Fibrodysplasia ossificans progressiva (FOP; MIM# 135100) is a debilitating genetic disorder
of dysregulated cellular differentiation characterized by malformation of the great toes during …

Early diagnosis of fibrodysplasia ossificans progressiva

FS Kaplan, M Xu, DL Glaser, F Collins, M Connor… - …, 2008 - publications.aap.org
BACKGROUND. Fibrodysplasia ossificans progressiva is a rare and disabling genetic
condition characterized by congenital malformation of the great toes and by progressive …

ACVR1 function in health and disease

JA Valer, C Sánchez-de-Diego, C Pimenta-Lopes… - Cells, 2019 - mdpi.com
Activin A receptor type I (ACVR1) encodes for a bone morphogenetic protein type I receptor
of the TGFβ receptor superfamily. It is involved in a wide variety of biological processes …

Fibrodysplasia ossificans progressiva: mechanisms and models of skeletal metamorphosis

FS Kaplan, SA Chakkalakal… - Disease models & …, 2012 - journals.biologists.com
Fibrodysplasia ossificans progressiva (FOP; MIM# 135100) is a debilitating genetic disorder
of connective tissue metamorphosis. It is characterized by malformation of the great (big) …

Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation

I Hüning, G Gillessen-Kaesbach - Molecular syndromology, 2014 - karger.com
Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare autosomal dominant
genetic disorder and the most disabling condition of heterotopic (extraskeletal) ossification …