Treatment responses in five patients with ribbing disease including two with 466C>T missense mutations in TGFβ1

PDGF, TGF-β, and FGF signaling is important for differentiation and growth of mesenchymal stem cells (MSCs): transcriptional profiling can identify markers and signaling pathways important in differentiation of MSCs into adipogenic, chondrogenic, and osteogenic lineages

Felicia Ng, Shayne Boucher, Susie Koh et al. · Blood · 2008 · 575 citations

Life Sciences, Cell Biology, Developmental Biology +17

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

Akira Kinoshita, Takashi Saito, Hiroaki Tomita et al. · Nature Genetics · 2000 · 253 citations

Life Sciences, Genetics, Molecular Genetics +7

Domain-specific Mutations of a Transforming Growth Factor (TGF)-β1 Latency-associated Peptide Cause Camurati-Engelmann Disease Because of the Formation of a Constitutively Active Form of TGF-β1

Takashi Saito, Akira Kinoshita, Koh-ichiro Yoshiura et al. · Journal of Biological Chemistry · 2001 · 100 citations · Full text

Medicine, Cell Biology, Molecular Biology +15

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati–Engelmann disease): Report of a four‐generation pedigree, identification of a mutation in TGFB1, and review

Stephanie E Wallace, Ralph S. Lachman, Pertchoui B. Mekikian et al. · American Journal of Medical Genetics Part A · 2004 · 73 citations

Medicine, Genetics, Molecular Genetics +16

Intrafamilial phenotypic variability in Engelmann disease (ED): Are ED and Ribbing disease the same entity?

Yoshio Makita, Gen Nishimura, Shiro Ikegawa et al. · American Journal of Medical Genetics · 2000 · 52 citations

Medicine, Pathology, Genodermatoses +16