Literature DB >> 12351574

Molecular genetics of too much bone.

Katrien Janssens1, Wim Van Hul.   

Abstract

Bone remodelling is an important process both throughout growth and in adult life. The homeostasis of bone tissue is maintained by the balanced processes of bone resorption and formation. Imbalance can give rise to a broad spectrum of skeletal pathologies, of which osteoporosis, characterized by a decrease in bone density leading to increased fracture risk, is the best known because of its high prevalence and consequently high socio-economic impact. At the opposite end of the spectrum, several genetic conditions displaying too much bone are situated. Mainly because of their monogenic nature-in contrast to the multifactorial character of osteoporosis-the underlying molecular genetic causes for several of these conditions have been revealed recently. In this review, the most important gene identifications of the last years and their impact on the understanding of bone biology are discussed.

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Year:  2002        PMID: 12351574     DOI: 10.1093/hmg/11.20.2385

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  11 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

Review 2.  Genetics of osteoporosis.

Authors:  Huilin Jin; Stuart H Ralston
Journal:  Curr Rheumatol Rep       Date:  2005-03       Impact factor: 4.592

3.  Control of the SOST bone enhancer by PTH using MEF2 transcription factors.

Authors:  Olivier Leupin; Ina Kramer; Nicole M Collette; Gabriela G Loots; François Natt; Michaela Kneissel; Hansjoerg Keller
Journal:  J Bone Miner Res       Date:  2007-12       Impact factor: 6.741

Review 4.  [Primary and secondary osteoporosis. The important role of internal medicine in its differential diagnosis].

Authors:  F Jakob
Journal:  Internist (Berl)       Date:  2005-05       Impact factor: 0.743

5.  Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.

Authors:  Elena A Bliznetz; Svetlana M Tverskaya; Rena A Zinchenko; Anna V Abrukova; Ekaterina N Savaskina; Maxim V Nikulin; Alexander G Kirillov; Evgeny K Ginter; Alexander V Polyakov
Journal:  Eur J Hum Genet       Date:  2009-01-28       Impact factor: 4.246

Review 6.  Osteoblast dysfunctions in bone diseases: from cellular and molecular mechanisms to therapeutic strategies.

Authors:  Pierre J Marie
Journal:  Cell Mol Life Sci       Date:  2014-12-09       Impact factor: 9.261

7.  OSTM1 bone defect reveals an intercellular hematopoietic crosstalk.

Authors:  Monica Pata; Céline Héraud; Jean Vacher
Journal:  J Biol Chem       Date:  2008-09-11       Impact factor: 5.157

8.  Varus deformity of the left lower extremity causing degenerative lesion of the posterior horn of the left medial meniscus in a patient with Paget's disease of bone.

Authors:  Ali Al Kaissi; Rudolf Ganger; Gabriel Mindler; Klaus Klaushofer; Franz Grill
Journal:  Ger Med Sci       Date:  2014-09-25

9.  Molecular Basis for Craniofacial Phenotypes Caused by Sclerostin Deletion.

Authors:  J Chen; X Yuan; I Pilawski; X Liu; J Delgado-Calle; T Bellido; H Turkkahraman; J A Helms
Journal:  J Dent Res       Date:  2020-10-20       Impact factor: 6.116

10.  Anti-Sclerostin antibody inhibits internalization of Sclerostin and Sclerostin-mediated antagonism of Wnt/LRP6 signaling.

Authors:  Maarten van Dinther; Juan Zhang; Stella E Weidauer; Verena Boschert; Eva-Maria Muth; Achim Knappik; David J J de Gorter; Puck B van Kasteren; Christian Frisch; Thomas D Mueller; Peter ten Dijke
Journal:  PLoS One       Date:  2013-04-29       Impact factor: 3.240

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