Literature DB >> 10973241

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

A Kinoshita1, T Saito, H Tomita, Y Makita, K Yoshida, M Ghadami, K Yamada, S Kondo, S Ikegawa, G Nishimura, Y Fukushima, T Nakagomi, H Saito, T Sugimoto, M Kamegaya, K Hisa, J C Murray, N Taniguchi, N Niikawa, K Yoshiura.   

Abstract

Camurati-Engelmann disease (CED, MIM 131300) is an autosomal dominant, progressive diaphyseal dysplasia characterized by hyperosteosis and sclerosis of the diaphyses of long bones. We recently assigned the CED locus to an interval between D19S422 and D19S606 at chromosome 19q13.1-q13.3, which two other groups confirmed. As the human transforming growth factor-1 gene (TGFB1) is located within this interval, we considered it a candidate gene for CED.

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Year:  2000        PMID： 10973241     DOI： 10.1038/79128

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  79 in total

Review 1.  Genetic disorders of the skeleton: a developmental approach.

Authors:  Uwe Kornak; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2003-07-31       Impact factor: 11.025

2.  Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases.

Authors:  Glaucio R W Castro; Simone Appenzeller; João Francisco Marques-Neto; Manoel B Bértolo; Adil M Samara; Ibsen Coimbra
Journal:  Clin Rheumatol       Date:  2005-01-20       Impact factor: 2.980

3.  A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34.

Authors:  B Isidor; N Dagoneau; C Huber; D Genevieve; B Bader-Meunier; S Blanche; C Picard; M C De Vernejoul; A Munnich; M Le Merrer; V Cormier-Daire
Journal:  Hum Genet       Date:  2007-01-03       Impact factor: 4.132

4.  Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease.

Authors:  Jonas Bondestam; Mervi K Mäyränpää; Shiro Ikegawa; Eino Marttinen; Heikki Kröger; Outi Mäkitie
Journal:  Clin Rheumatol       Date:  2007-01-06       Impact factor: 2.980

5.  A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati-Engelmann disease.

Authors:  Kousuke Iba; Junichi Takada; Hotaka Kamasaki; Takashi Oda; Naoko Hatakeyama; Takuro Wada; Toshihiko Yamashita
Journal:  J Bone Miner Metab       Date:  2008-01-10       Impact factor: 2.626

6.  ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.

Authors:  Carine Le Goff; Fanny Morice-Picard; Nathalie Dagoneau; Lauren W Wang; Claire Perrot; Yanick J Crow; Florence Bauer; Elisabeth Flori; Catherine Prost-Squarcioni; Deborah Krakow; Gaoxiang Ge; Daniel S Greenspan; Damien Bonnet; Martine Le Merrer; Arnold Munnich; Suneel S Apte; Valérie Cormier-Daire
Journal:  Nat Genet       Date:  2008-09       Impact factor: 38.330

Review 7.  Caffey disease: new perspectives on old questions.

Authors:  Harikiran Nistala; Outi Mäkitie; Harald Jüppner
Journal:  Bone       Date:  2013-12-31       Impact factor: 4.398

8.  Tgfbr2 is required in osterix expressing cells for postnatal skeletal development.

Authors:  Sarah B Peters; Ying Wang; Rosa Serra
Journal:  Bone       Date:  2016-12-30       Impact factor: 4.398

9.  Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

Authors:  Liesbeth Van Wesenbeeck; Erna Cleiren; Jeppe Gram; Rodney K Beals; Olivier Bénichou; Domenico Scopelliti; Lyndon Key; Tara Renton; Cindy Bartels; Yaoqin Gong; Matthew L Warman; Marie-Christine De Vernejoul; Jens Bollerslev; Wim Van Hul
Journal:  Am J Hum Genet       Date:  2003-02-10       Impact factor: 11.025

10.  Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II.

Authors:  Heather Flanagan-Steet; Christina Sias; Richard Steet
Journal:  Am J Pathol       Date:  2009-10-15       Impact factor: 4.307
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