DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene
نویسندگان
چکیده
منابع مشابه
TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome
Velo-cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS) is a human disorder characterized by a number of phenotypic features including cardiovascular defects. Most VCFS/DGS patients are hemizygous for a 1.5-3.0 Mb region of 22q11. To investigate the etiology of this disorder, we used a cre-loxP strategy to generate mice that are hemizygous for a 1.5 Mb deletion corresponding to that on 22q11...
متن کاملIdentification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects.
GATA binding protein 6 (GATA6) encodes a zinc‑finger transcription factor that is essential for normal heart development. Mutations in this gene lead to conotruncal heart defects associated with cyanotic congenital heart disease; however, it remains unclear whether the mutations in GATA6 are also responsible for the development of the nonsyndromic conotruncal heart defects. The coding region exo...
متن کاملCytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects
Despite considerable advances in the detection of genomic abnormalities in congenital heart disease (CHD), the etiology of CHD remains largely unknown. CHD is the most common birth defect and is a major cause of infant morbidity and mortality, and conotruncal defects constitute 20% of all CHD cases. We used array comparative genomic hybridization (array-CGH) to retrospectively study 60 subjects...
متن کاملfaculty of psychology and social sciences group of anthropology master thesis in major of anthropology
چکیده پایان نامه (شامل خلاصه، اهداف، روش های اجرا و نتایج به دست آمده): کار جمع آوری گو یش های محلی در سال های اخیر شتاب امیدوار کننده ای به خود گرفته است. شاید از بارزترین اهداف جمع آوری گویش های مختلف، ثبت و ضبط آن، جلوگیری از نابودی و مهمتر از همه حل مشکلات دستوری زبان رسمی باشد. دقت در فرآیند های زبانی گویش های محلی نوع ارتباط مردم نواحی مختلف با پیرامون نشان را به ما نشان خواهد داد. از س...
TBX1, a DiGeorge syndrome candidate gene, is inhibited by retinoic acid.
Both retinoic acid (RA) and Tbx1 are definitively indispensable for the development of the pharyngeal arches. The defects produced by a loss of Tbx1 highly resemble those induced by hyper- and hypo-RA. Based on these similarities, the effects of RA on Tbx1 expression pattern were explored during pharyngeal arch development in zebrafish. Whole-mount in situ hybridization and real-time quantitati...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2003
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200956