Literature DB >> 11459326

Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip.

E Yamachika1, H Tsujigiwa, Y Ishiwari, N Mizukawa, N Nagai, T Sugahara.   

Abstract

We examined a patient with cleidocranial dysplasia (CCD) and cleft lip and found a new stop codon mutation in CBFA1. This mutation was a heterozygous C-to-T transition in exon 3 of CBFA1. This nucleotide change converts a CAA codon to a TAA (stop) codon at amino acid position Gln195 in the runt domain of CBFA1.

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Year:  2001        PMID： 11459326     DOI： 10.1034/j.1600-0714.2001.300610.x

Source DB:  PubMed          Journal:  J Oral Pathol Med        ISSN： 0904-2512            Impact factor:   4.253


  4 in total

1.  Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate.

Authors:  Tao Wu; M Daniele Fallin; Min Shi; Ingo Ruczinski; Kung Yee Liang; Jacqueline B Hetmanski; Hong Wang; Roxann G Ingersoll; Shangzhi Huang; Xiaoqian Ye; Yah-Huei Wu-Chou; Philip K Chen; Ethylin Wang Jabs; Bing Shi; Richard Redett; Alan F Scott; Jeffrey C Murray; Mary L Marazita; Ronald G Munger; Terri H Beaty
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2012-01-12

2.  Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations.

Authors:  Jae Woong Sull; Kung-Yee Liang; Jacqueline B Hetmanski; Margaret Daniele Fallin; Roxann G Ingersoll; Jiwan Park; Yah-Huei Wu-Chou; Philip K Chen; Samuel S Chong; Felicia Cheah; Vincent Yeow; Beyoung Yun Park; Sun Ha Jee; Ethylin Wang Jabs; Richard Redett; Euiju Jung; Ingo Ruczinski; Alan F Scott; Terri H Beaty
Journal:  Genet Epidemiol       Date:  2008-09       Impact factor: 2.135

3.  Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.

Authors:  Taketoshi Yoshida; Hirokazu Kanegane; Motomi Osato; Masatoshi Yanagida; Toshio Miyawaki; Yoshiaki Ito; Katsuya Shigesada
Journal:  Am J Hum Genet       Date:  2002-08-26       Impact factor: 11.025

4.  Runx2-Twist1 interaction coordinates cranial neural crest guidance of soft palate myogenesis.

Authors:  Xia Han; Jifan Feng; Tingwei Guo; Yong-Hwee Eddie Loh; Yuan Yuan; Thach-Vu Ho; Courtney Kyeong Cho; Jingyuan Li; Junjun Jing; Eva Janeckova; Jinzhi He; Fei Pei; Jing Bi; Brian Song; Yang Chai
Journal:  Elife       Date:  2021-01-22       Impact factor: 8.140
  4 in total

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