Literature DB >> 24947952

Sclerosing bone dysplasias: leads toward novel osteoporosis treatments.

Igor Fijalkowski1, Eveline Boudin, Geert Mortier, Wim Van Hul.   

Abstract

Sclerosing bone dysplasias are a group of rare, monogenic disorders characterized by increased bone density resulting from the disturbance in the fragile equilibrium between bone formation and resorption. Over the last decade, major contributions have been made toward better understanding of the pathogenesis of these conditions. These studies provided us with important insights into the bone biology and yielded the identification of numerous drug targets for the prevention and treatment of osteoporosis. Here, we review this heterogeneous group of disorders focusing on their utility in the development of novel osteoporosis therapies.

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Year:  2014        PMID: 24947952     DOI: 10.1007/s11914-014-0220-5

Source DB:  PubMed          Journal:  Curr Osteoporos Rep        ISSN: 1544-1873            Impact factor:   5.096


  70 in total

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2.  Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.

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Journal:  Nat Genet       Date:  2001-05       Impact factor: 38.330

3.  Evidence for a viral etiology of Paget's disease of bone.

Authors:  F R Singer; B G Mills
Journal:  Clin Orthop Relat Res       Date:  1983-09       Impact factor: 4.176

4.  Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

Authors:  Su Jin Kim; Tadeusz Bieganski; Young Bae Sohn; Kazimierz Kozlowski; Mikhail Semënov; Nobuhiko Okamoto; Chi Hwa Kim; Ah-Ra Ko; Geung Hwan Ahn; Yoon-La Choi; Sung Won Park; Chang-Seok Ki; Ok-Hwa Kim; Gen Nishimura; Sheila Unger; Andrea Superti-Furga; Dong-Kyu Jin
Journal:  Hum Genet       Date:  2011-01-09       Impact factor: 4.132

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

Authors:  A Kinoshita; 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
Journal:  Nat Genet       Date:  2000-09       Impact factor: 38.330

6.  Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.

Authors:  B D Gelb; G P Shi; H A Chapman; R J Desnick
Journal:  Science       Date:  1996-08-30       Impact factor: 47.728

7.  Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease.

Authors:  M P Whyte; B G Mills; W R Reinus; M N Podgornik; G D Roodman; F H Gannon; M C Eddy; W H McAlister
Journal:  J Bone Miner Res       Date:  2000-12       Impact factor: 6.741

8.  An SNX10 mutation causes malignant osteopetrosis of infancy.

Authors:  Memet Aker; Alex Rouvinski; Saar Hashavia; Asaf Ta-Shma; Avraham Shaag; Shamir Zenvirt; Shoshana Israel; Michael Weintraub; Albert Taraboulos; Zvi Bar-Shavit; Orly Elpeleg
Journal:  J Med Genet       Date:  2012-04       Impact factor: 6.318

9.  Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.

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Journal:  Am J Hum Genet       Date:  2001-02-09       Impact factor: 11.025

10.  Two years of Denosumab and teriparatide administration in postmenopausal women with osteoporosis (The DATA Extension Study): a randomized controlled trial.

Authors:  Benjamin Z Leder; Joy N Tsai; Alexander V Uihlein; Sherri-Ann M Burnett-Bowie; Yuli Zhu; Katelyn Foley; Hang Lee; Robert M Neer
Journal:  J Clin Endocrinol Metab       Date:  2014-02-11       Impact factor: 5.958

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  3 in total

Review 1.  A look behind the scenes: the risk and pathogenesis of primary osteoporosis.

Authors:  Gretl Hendrickx; Eveline Boudin; Wim Van Hul
Journal:  Nat Rev Rheumatol       Date:  2015-04-21       Impact factor: 20.543

2.  Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.

Authors:  Aritoshi Iida; Weirong Xing; Martine K F Docx; Tomoki Nakashima; Zheng Wang; Mamori Kimizuka; Wim Van Hul; Dietz Rating; Jürgen Spranger; Hirohumi Ohashi; Noriko Miyake; Naomichi Matsumoto; Subburaman Mohan; Gen Nishimura; Geert Mortier; Shiro Ikegawa
Journal:  J Med Genet       Date:  2016-04-07       Impact factor: 6.318

3.  Idiopathic Acquired Osteosclerosis in a Middle-Aged Woman With Systemic Lupus Erythematosus.

Authors:  Núria Guañabens; Steven Mumm; Laia Gifre; Silvia Ruiz-Gaspà; Jennifer L Demertzis; Marina Stolina; Deborah V Novack; Michael P Whyte
Journal:  J Bone Miner Res       Date:  2016-05-09       Impact factor: 6.741

  3 in total

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