A Chinese girl molecularly diagnosed with Alagille syndrome

Li, Fu-Bang; Chen, Jie; Yu, Jindan; Gao, Hui; Qi, Ming

doi:10.1007/s12519-010-0226-8

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2012

2024

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Cited by 3 publications

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“…Over 300 JAG1gene variants and 2 NOTCH2 gene variants have been identified in AGS patients (Warthen et al, 2006;Jurkiewicz et al, 2005), but only 2 variations have involved two Chinese cases (Li et al, 2010;Wang et al, 2010). The purpose of the present study was to identify the causative alterations in JAG1 and NOTCH2 in a group of Chinese AGS patients and to assess the genotype-phenotype correlation.…”

Section: Introductionmentioning

confidence: 97%

Analysis of JAG1 gene variant in Chinese patients with Alagille syndrome

Wang

et al. 2012

Gene

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Section: Introductionmentioning

confidence: 97%

Analysis of JAG1 gene variant in Chinese patients with Alagille syndrome

Wang

et al. 2012

Gene

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Transcription Factor Pathways and Congenital Heart Disease

McCulley

Black

2012

Current Topics in Developmental Biology

274

199

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Congenital heart disease is a major cause of morbidity and mortality throughout life. Mutations in numerous transcription factors have been identified in patients and families with some of the most common forms of cardiac malformations and arrhythmias. This review discusses factor pathways known to be important for normal heart development and how abnormalities in these pathways have been linked to morphological and functional forms of congenital heart defects. A comprehensive, current list of known transcription factor mutations associated with congenital heart disease is provided, but the review focuses primarily on three key transcription factors, Nkx2-5, GATA4, and Tbx5, and their known biochemical and genetic partners. By understanding the interaction partners, transcriptional targets, and upstream activators of these core cardiac transcription factors, additional information about normal heart formation and further insight into genes and pathways affected in congenital heart disease should result.

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