A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy

ConclusionWe have identified a novelCASZ1 variant in a patient with combined DCM and LVNC for the first time, thus broadening the phenotypic spectrum ofCASZ1 variants. Furthermore, this study emphasized the usefulness of whole ‐exome sequencing for genetic diagnosis of cardiomyopathy.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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Conclusions Electroconvulsive therapy use appears to be substantially higher in China than in the United States and is associated with indicators of higher rather than lower functioning as reflected by independent associations with youth, employment, and fewer past hospitalizations, but also with behavioral noncompliance as reflected by involuntary admission, and has increased in recent years. Understanding United States–China discrepancies may further international understanding of the diverse roles of ECT in psychiatric practice.
Source: The Journal of ECT - Category: Psychiatry Tags: Original Studies Source Type: research
Conclusions: These results demonstrate that the CTC can be used to create highly relevant models where hemodynamic loading and unloading are accurately reproduced for cardiovascular disease mod- ling.
Source: IEEE Transactions on Biomedical Engineering - Category: Biomedical Engineering Source Type: research
In conclusion, RPTS alleviated H2O2‑induced oxidative stress injury by upregulating the Nrf2 pathway. The potential effects of RPTS on protection against H2O2‑induced apoptosis of ARPE‑19 cells suggested that RPTS may be a potential therapeutic target for preventing age‑related macular degeneration. PMID: 31746361 [PubMed - as supplied by publisher]
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
In conclusion, the present study identified the splicing mutation c.360+5G>T in the GPR143 gene in a Chinese family with OA1 and successfully identified the site. To the best of our knowledge, there have been no previous reports regarding this mutation in any major genome databases; therefore, this outcome may enrich the mutation spectrum of the GPR143 gene. PMID: 31746431 [PubMed - as supplied by publisher]
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
This study aimed to lay a foundation for prenatal diagnosis for this family. Briefly, genomic DNA was extracted from peripheral blood samples obtained from the family. High‑throughput genetic sequencing was employed to detect the whole exome; subsequently, Sanger sequencing was performed to verify the candidate mutations. Clinical analysis of the proband was also accomplished. Consequently, a novel missense ATRX mutation was identified comprising a single nucleotide change of C to T, which caused an amino acid substitution at codon 172 in exon 7 (c.515C>T; p.Thr172Ile) of the proband. This mutation was ...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next‑generation sequencing and Sanger sequencing. Mol Med Rep. 2019 Nov 20;: Authors: Liu WL, Li F, Liu L, Chen W, He ZX, Gu H, Ai R Abstract Wilson disease (WD) is a rare autosomal recessive genetic disorder that causes abnormal copper metabolism, resulting in pathological accumulation of copper in the liver, brain and other organs. Mutations in the ATPase copper transporter 7B (ATP7B) gene, which encodes a membrane P‑type adenosine triphosphatase, have been identified as be...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Authors: Wang WB, Kong LC, Zuo RT, Kang QL Abstract Distal arthrogryposis (DA) type 2B (DA2B) is an autosomal dominant congenital disorder, characterized by camptodactyly, thumb adduction, ulnar deviation and facial features, including small mouth, down‑slanting palpebral fissure and slight nasolabial fold. It has been reported that four genes are associated with DA2B, including troponin I, fast‑twitch skeletal muscle isoform, troponin T3, fast skeletal, myosin heavy chain 3 (MYH3) and tropomyosin 2, which are all associated with embryonic limb morphogenesis and skeletal muscle contraction. In the present study...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Time limit: 0 Quiz-summary 0 of 20 questions completed Questions: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Information This test series requires login for attempting. You can login easily with your Facebook account (Use the CONNECT WITH icon on the upper part of right sidebar displaying t...
Source: Cardiophile MD - Category: Cardiology Authors: Tags: General Cardiology Source Type: blogs
Abstract Dilated cardiomyopathy (DCM) is an important cause of heart failure and sudden cardiac death worldwide. Transcription factor TBX20 has been shown to play a crucial role in cardiac development and maintenance of adult mouse heart. Recent studies suggest that TBX20 may have a role in pathophysiology of DCM. In the present study, we examined TBX20 expression in idiopathic DCM patients and in an animal model of cardiomyopathy, and studied its correlation with echocardiographic indices of LV function. Endomyocardial biopsies (EMBs) from intraventricular septal from the right ventricle region were obtained from...
Source: Molecular and Cellular Biochemistry - Category: Biochemistry Authors: Tags: Mol Cell Biochem Source Type: research
Please wait while the activity loads. If this activity does not load, try refreshing your browser. Also, this page requires javascript. Please visit using a browser with javascript enabled. If loading fails, click here to try again Click on the 'Start' button to begin the mock test. After answering all questions, click on the 'Get Results' button to display your score and the explanations. There is no time limit for this mock test. Start Congratulations - you have completed DM / DNB Cardiology Entrance Mock Test 11.You scored %%SCORE%% out of %%TOTAL%%.Your performance has been rated as %%...
Source: Cardiophile MD - Category: Cardiology Authors: Tags: Cardiology MCQ DM / DNB Cardiology Entrance Featured Source Type: blogs
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