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Literature DB >> 10615120

Mutation of PAX9 is associated with oligodontia.

D W Stockton¹, P Das, M Goldenberg, R N D'Souza, P I Patel.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2000 PMID： 10615120 DOI： 10.1038/71634

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

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111 in total

1. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

Authors: Simeon A Boyadjiev; Cristina M Justice; Wafaa Eyaid; Victor A McKusick; Ralph S Lachman; Arnab B Chowdry; Monzer Jabak; Johan Zwaan; Alexander F Wilson; Ethylin Wang Jabs
Journal: Hum Genet Date: 2003-04-03 Impact factor: 4.132

2. De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia.

Authors: Manolis J Papagrigorakis; Philippos N Synodinos; Constandinos P Daliouris; Caterina Metaxotou
Journal: Eur J Pediatr Date: 2003-06-24 Impact factor: 3.183

3. Case report: identical twins revealing discordant hypodontia. The rationale of dental arch differences in monozygotic twins.

Authors: M Varela; M J Trujillo-Tiebas; P Garcia-Camba
Journal: Eur Arch Paediatr Dent Date: 2011-12

4. Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

Authors: Maarten P G Massink; Marijn A Créton; Francesca Spanevello; Willem M M Fennis; Marco S Cune; Sanne M C Savelberg; Isaäc J Nijman; Madelon M Maurice; Marie-José H van den Boogaard; Gijs van Haaften
Journal: Am J Hum Genet Date: 2015-09-17 Impact factor: 11.025

5. A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia.

Authors: Dolrudee Jumlongras; Jenn-Yih Lin; Anas Chapra; Christine E Seidman; Jonathan G Seidman; Richard L Maas; Bjorn R Olsen
Journal: Hum Genet Date: 2003-12-19 Impact factor: 4.132

6. Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development.

Authors: Tiago V Pereira; Francisco M Salzano; Adrianna Mostowska; Wieslaw H Trzeciak; Andrés Ruiz-Linares; José A B Chies; Carmen Saavedra; Cleusa Nagamachi; Ana M Hurtado; Kim Hill; Dinorah Castro-de-Guerra; Wilson A Silva-Júnior; Maria-Cátira Bortolini
Journal: Proc Natl Acad Sci U S A Date: 2006-04-03 Impact factor: 11.205

Mutation of PAX9 is associated with oligodontia.

1. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

2. De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia.

3. Case report: identical twins revealing discordant hypodontia. The rationale of dental arch differences in monozygotic twins.

4. Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

5. A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia.

6. Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development.

7. WNT10A variants are associated with non-syndromic tooth agenesis in the general population.

Review 8. The genetic basis of modularity in the development and evolution of the vertebrate dentition.

9. Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region.

10. A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.