Literature DB >> 19816326

Genetics and human malformations.

Gabriele Mues1, Hitesh Kapadia, Ying Wang, Rena N D'Souza.   

Abstract

Genetics gains more and more importance in all areas of health care including craniofacial surgery and dentistry. This does not mean that every patient will benefit from genetic advances, but for many health problems, we will see progress in explaining disease pathogenesis, establishing diagnosis, guiding therapy, predicting prognosis, and achieving prevention. In this report, we briefly review the roles of the PAX9, MSX1, AXIN2, and EDA genes in the causation of congenital tooth agenesis and the promise of molecular genetic research for the improvement of patient care.

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Year:  2009        PMID: 19816326      PMCID: PMC2798143          DOI: 10.1097/SCS.0b013e3181b2d3f3

Source DB:  PubMed          Journal:  J Craniofac Surg        ISSN: 1049-2275            Impact factor:   1.046


  12 in total

1.  Epithelial-mesenchymal signalling regulating tooth morphogenesis.

Authors:  Irma Thesleff
Journal:  J Cell Sci       Date:  2003-05-01       Impact factor: 5.285

Review 2.  Pax genes and organogenesis: Pax9 meets tooth development.

Authors:  H Peters; A Neubüser; R Balling
Journal:  Eur J Oral Sci       Date:  1998-01       Impact factor: 2.612

3.  Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

Authors:  Catherine Dodé; Jacqueline Levilliers; Jean-Michel Dupont; Anne De Paepe; Nathalie Le Dû; Nadia Soussi-Yanicostas; Roney S Coimbra; Sedigheh Delmaghani; Sylvie Compain-Nouaille; Françoise Baverel; Christophe Pêcheux; Dominique Le Tessier; Corinne Cruaud; Marc Delpech; Frank Speleman; Stefan Vermeulen; Andrea Amalfitano; Yvan Bachelot; Philippe Bouchard; Sylvie Cabrol; Jean-Claude Carel; Henriette Delemarre-van de Waal; Barbara Goulet-Salmon; Marie-Laure Kottler; Odile Richard; Franco Sanchez-Franco; Robert Saura; Jacques Young; Christine Petit; Jean-Pierre Hardelin
Journal:  Nat Genet       Date:  2003-03-10       Impact factor: 38.330

4.  A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.

Authors:  Ran Tao; Buhe Jin; Shen Zheng Guo; Wei Qing; Guo Yin Feng; David G Brooks; Lijun Liu; Junfu Xu; Taiwei Li; Yujuan Yan; Lin He
Journal:  J Hum Genet       Date:  2006-04-01       Impact factor: 3.172

5.  Functional consequences of interactions between Pax9 and Msx1 genes in normal and abnormal tooth development.

Authors:  Takuya Ogawa; Hitesh Kapadia; Jian Q Feng; Rajendra Raghow; Heiko Peters; Rena N D'Souza
Journal:  J Biol Chem       Date:  2006-05-01       Impact factor: 5.157

6.  Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

Authors:  A O Wilkie; S F Slaney; M Oldridge; M D Poole; G J Ashworth; A D Hockley; R D Hayward; D J David; L J Pulleyn; P Rutland
Journal:  Nat Genet       Date:  1995-02       Impact factor: 38.330

7.  Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9.

Authors:  Ying Wang; Jay C Groppe; Jingfeng Wu; Takuya Ogawa; Gabriele Mues; Rena N D'Souza; Hitesh Kapadia
Journal:  Hum Mol Genet       Date:  2009-05-09       Impact factor: 6.150

8.  Permanent correction of an inherited ectodermal dysplasia with recombinant EDA.

Authors:  Olivier Gaide; Pascal Schneider
Journal:  Nat Med       Date:  2003-04-07       Impact factor: 53.440

9.  Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

Authors:  W Reardon; R M Winter; P Rutland; L J Pulleyn; B M Jones; S Malcolm
Journal:  Nat Genet       Date:  1994-09       Impact factor: 38.330

10.  Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.

Authors:  Laura Lammi; Sirpa Arte; Mirja Somer; Heikki Jarvinen; Paivi Lahermo; Irma Thesleff; Sinikka Pirinen; Pekka Nieminen
Journal:  Am J Hum Genet       Date:  2004-03-23       Impact factor: 11.025

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  2 in total

1.  A new approach to chromosome-wide analysis of X-linked markers identifies new associations in Asian and European case-parent triads of orofacial clefts.

Authors:  Øivind Skare; Håkon K Gjessing; Miriam Gjerdevik; Øystein A Haaland; Julia Romanowska; Rolv T Lie; Astanand Jugessur
Journal:  PLoS One       Date:  2017-09-06       Impact factor: 3.240

2.  Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance.

Authors:  Sare Gökdere; Holm Schneider; Ute Hehr; Laure Willen; Pascal Schneider; Sigrun Maier-Wohlfart
Journal:  Front Genet       Date:  2022-07-18       Impact factor: 4.772

  2 in total

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