Literature DB >> 9869286

Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level.

M M Cohen1.   

Abstract

This is the second of three articles on modern genetic concepts of a number of syndromes and disorders. Three short limb skeletal dysplasias with additional abnormalities of the skull are discussed. All are caused by mutations on fibroblast growth factor receptor 3 (FGFR3). A pathogenetic hypothesis is proposed to explain differences in the severity of short stature, midface deficiency, and craniosynostosis.

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Year:  1998        PMID： 9869286     DOI： 10.1016/s0901-5027(98)80036-2

Source DB:  PubMed          Journal:  Int J Oral Maxillofac Surg        ISSN： 0901-5027            Impact factor:   2.789


  8 in total

1.  Thanatophoric dysplasia: a rare entity.

Authors:  N S Naveen; B V Murlimanju; Vishal Kumar; Thejodhar Pulakunta
Journal:  Oman Med J       Date:  2011-05

2.  Thanatophoric Dysplasia : Antenatal Diagnosis.

Authors:  S Sahu; P Kaur
Journal:  Med J Armed Forces India       Date:  2011-07-21

Review 3.  Hydrocephalus in craniosynostosis: a review.

Authors:  H Collmann; N Sörensen; J Krauss
Journal:  Childs Nerv Syst       Date:  2005-04-27       Impact factor: 1.475

4.  Effect of the achondroplasia mutation on FGFR3 dimerization and FGFR3 structural response to fgf1 and fgf2: A quantitative FRET study in osmotically derived plasma membrane vesicles.

Authors:  Sarvenaz Sarabipour; Kalina Hristova
Journal:  Biochim Biophys Acta       Date:  2016-03-31

Review 5.  Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.

Authors:  Alessandra Guasto; Valérie Cormier-Daire
Journal:  Int J Mol Sci       Date:  2021-04-21       Impact factor: 5.923

6.  Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation.

Authors:  Lijuan He; Christopher Serrano; Nitish Niphadkar; Nadia Shobnam; Kalina Hristova
Journal:  PLoS One       Date:  2012-04-18       Impact factor: 3.240

7.  Fibroblast growth factor (FGF) signaling in development and skeletal diseases.

Authors:  Chad M Teven; Evan M Farina; Jane Rivas; Russell R Reid
Journal:  Genes Dis       Date:  2014-12-01

Review 8.  Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review.

Authors:  Guixiang Yao; Guangxin Wang; Dawei Wang; Guohai Su
Journal:  Medicine (Baltimore)       Date:  2019-01       Impact factor: 1.817
  8 in total

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