Literature DB >> 15218257

Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region.

S J Davies1, C Wise, B Venkatesh, G Mirza, A Jefferson, E V Volpi, J Ragoussis.   

Abstract

Orofacial clefting (OFC) is a common congenital malformation. Here we report the refinement of three translocation breakpoints of patients exhibiting OFC within the 6p24 region, and the isolation and characterisation of novel genes, one of which is directly disrupted by the translocation breakpoint of a patient. The gene has been characterized and orthologues identified in bovine, murine and pufferfish. Copyright 2003 S. Karger AG, Basel

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Year:  2004        PMID： 15218257     DOI： 10.1159/000078008

Source DB:  PubMed          Journal:  Cytogenet Genome Res        ISSN： 1424-8581            Impact factor:   1.636


  17 in total

1.  Frontal nasal prominence expression driven by Tcfap2a relies on a conserved binding site for STAT proteins.

Authors:  Amy L Donner; Trevor Williams
Journal:  Dev Dyn       Date:  2006-05       Impact factor: 3.780

Review 2.  Progress toward discerning the genetics of cleft lip.

Authors:  Andrew C Lidral; Lina M Moreno
Journal:  Curr Opin Pediatr       Date:  2005-12       Impact factor: 2.856

3.  Contribution of 6p24 to non-syndromic cleft lip and palate in a Malay population: association of variants in OFC1.

Authors:  I Salahshourifar; A S Halim; W A W Sulaiman; B A Zilfalil
Journal:  J Dent Res       Date:  2011-03       Impact factor: 6.116

4.  FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.

Authors:  Lina M Moreno; Maria Adela Mansilla; Steve A Bullard; Margaret E Cooper; Tamara D Busch; Junichiro Machida; Marla K Johnson; David Brauer; Katherine Krahn; Sandy Daack-Hirsch; Jamie L'heureux; Consuelo Valencia-Ramirez; Dora Rivera; Ana Maria López; Manuel A Moreno; Anne Hing; Edward J Lammer; Marilyn Jones; Kaare Christensen; Rolv T Lie; Astanand Jugessur; Allen J Wilcox; Peter Chines; Elizabeth Pugh; Kim Doheny; Mauricio Arcos-Burgos; Mary L Marazita; Jeffrey C Murray; Andrew C Lidral
Journal:  Hum Mol Genet       Date:  2009-09-24       Impact factor: 6.150

5.  Web-based, participant-driven studies yield novel genetic associations for common traits.

Authors:  Nicholas Eriksson; J Michael Macpherson; Joyce Y Tung; Lawrence S Hon; Brian Naughton; Serge Saxonov; Linda Avey; Anne Wojcicki; Itsik Pe'er; Joanna Mountain
Journal:  PLoS Genet       Date:  2010-06-24       Impact factor: 5.917

6.  Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.

Authors:  Hong Li; Ryan Sheridan; Trevor Williams
Journal:  Hum Mol Genet       Date:  2013-04-10       Impact factor: 6.150

7.  Ablation of Mrds1/Ofcc1 induces hyper-γ-glutamyl transpeptidasemia without abnormal head development and schizophrenia-relevant behaviors in mice.

Authors:  Tetsuo Ohnishi; Kazuo Yamada; Akiko Watanabe; Hisako Ohba; Toru Sakaguchi; Yota Honma; Yoshimi Iwayama; Tomoko Toyota; Motoko Maekawa; Kazutada Watanabe; Sevilla D Detera-Wadleigh; Shigeharu Wakana; Takeo Yoshikawa
Journal:  PLoS One       Date:  2011-12-29       Impact factor: 3.240

8.  AP-2α and AP-2β cooperatively function in the craniofacial surface ectoderm to regulate chromatin and gene expression dynamics during facial development.

Authors:  Eric Van Otterloo; Isaac Milanda; Hamish Pike; Jamie A Thompson; Hong Li; Kenneth L Jones; Trevor Williams
Journal:  Elife       Date:  2022-03-25       Impact factor: 8.713

9.  Genome-wide association study of stimulant dependence.

Authors:  Jiayi Cox; Richard Sherva; Leah Wetherill; Tatiana Foroud; Howard J Edenberg; Henry R Kranzler; Joel Gelernter; Lindsay A Farrer
Journal:  Transl Psychiatry       Date:  2021-06-29       Impact factor: 6.222

10.  PhenoDigm: analyzing curated annotations to associate animal models with human diseases.

Authors:  Damian Smedley; Anika Oellrich; Sebastian Köhler; Barbara Ruef; Monte Westerfield; Peter Robinson; Suzanna Lewis; Christopher Mungall
Journal:  Database (Oxford)       Date:  2013-05-09       Impact factor: 3.451
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