543miR-19a replacement rescues cardiac and fin defects in zebrafish model of holt-oram syndrome

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MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome.

Holt-Oram Syndrome (HOS) is an autosomal dominant heart-hand syndrome caused by mutations in the TBX5 gene, a transcription factor capable of regulating hundreds of cardiac-specific genes through complex transcriptional networks. Here we show that, in zebrafish, modulation of a single miRNA is sufficient to rescue the morphogenetic defects generated by HOS. The analysis of miRNA-seq profiling r...

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Holt-Oram syndrome.

A29-year-old woman presented with dizziness. Physical and radiographic examinations showed skeletal hand malformations, ie, digitalized triphalangeal thumbs and dystrophy of the carpal bones. When she was 15 years old, an atrial septal defect had been repaired. ECG recordings showed abnormalities of atrial excitation such as a wandering pacemaker, atrial ectopic activity, AV-nodal block, and si...

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The Holt-Oram syndrome.

The classical description of this syndrome of upper limb abnormalities and congenital heart lesions was by Holt and Oram in 1960.1 They were from King's College Hospital in London and reported a four generation family with nine affected subjects. Many other families were then recognised to have the same condition, which led to a series of reports in the early 1960s. The names atriodigital dyspl...

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Holt-Oram syndrome.

Holt-Oram syndrome (HOS) is a rare disorder characterized by congenital anomalies of the upper limbs and heart. Cardiac arrhythmias are common in patients with HOS. We successfully managed a 24-yr-old woman with HOS who underwent laparoscopic ovarian cystectomy. Potential problems in the anaesthetic management of patients with HOS are discussed.

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A Case of Holt - Oram Syndrome

SUMMARY Holt Oram Syndrome consisting of upper limb defcts, cardiac anomalies and narrow shoulder, was first described by Holt and Oram in 1960. The inheritance pattern is autosomal dominant and most commonly encoutered cardiac anomalies being ASD, although all variaties of C.H.D are reported. Upper limb anomalies are not specific, although scaphoid bone deformity is almost characteristic in t...

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ژورنال

عنوان ژورنال: Cardiovascular Research

سال: 2014

ISSN: 0008-6363,1755-3245

DOI: 10.1093/cvr/cvu095.1