نتایج جستجو برای: ldb3 protein
تعداد نتایج: 1234739 فیلتر نتایج به سال:
conclusions bioinformatics analyses using sift, mutation taster and polyphen-2 indicated that p.ile563val was predicted to be damaging, disease causing, and probably damaging to and causing ldb3 dysfunction. as such, this mutation produces novel protein coding transcripts, which might explain the mfm phenotype in the patient. introduction myofibrillar myopathy (mfm) is a rare human disease, cha...
Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy.
AIMS Z-band alternatively spliced PDZ-motif protein (ZASP)/Cypher is a Z-disc component of which several dilated cardiomyopathy (DCM)-associated mutations have been reported. Most of the mutations were found in exons 4 and 10 of ZASP/Cypher gene LDB3 and both exons were expressed preferentially in the heart. The aim of this study was to investigate the functional alteration of ZASP/Cypher cause...
LIM homeodomain proteins are developmental regulators whose functions depend on synergism with LIM domain binding proteins (Ldb proteins). We have isolated four members of the ldb gene family from the zebrafish, Danio rerio. Ldb1, Ldb2 and Ldb3 share 95%, 73% and 62% amino acid identity with mouse Ldb1, respectively. In overlay assays, Ldb proteins bind LIM homeodomain proteins and LMO1, but no...
OBJECTIVES Statutory educational attainment measures are rarely used as health study outcomes, but Key Stage 1 (KS1) data formed secondary outcomes in the long-term follow-up to age 7 years of the ORACLE II trial of antibiotic use in preterm babies. This paper describes the approach, compares different approaches to analysis of the KS1 data and compares use of summary KS1 (level) data with use ...
Zasp52 is a member of the PDZ-LIM domain protein family in Drosophila, which comprises Enigma, ENH, ZASP, Alp, CLP36, RIL, and Mystique in vertebrates. Drosophila Zasp52 colocalizes with integrins at myotendinous junctions and with α-actinin at Z-disks, and is required for muscle attachment as well as Z-disk assembly and maintenance. Here we document 13 Zasp52 splice variants giving rise to six...
Conventional analysis using quantile regression typically focuses on fitting the regression model at different quantiles separately. However, in situations where the quantile coefficients share some common feature, joint modeling of multiple quantiles to accommodate the commonality often leads to more efficient estimation. One example of common features is that a predictor may have a constant e...
BACKGROUND The coexistence of congenital left ventricular aneurysm and abnormal cardiac trabeculation with gene mutation has not been reported previously. Here, we report a case of coexisting congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LIM domain binding 3 gene mutation. CASE PRESENTATION A 30-year-old Asian man showed paroxysmal sinus t...
In order to make it possible for us to easily create a virtual world simply by using our imagination with building blocks and to take photographs of ourselves traveling in the wonder space with a beautiful composition, we have developed a system called “Cypher (Cyber Photographer in Wonder Space)”. With this system, users can blend the real world with a virtual world by using their aesthetic se...
BACKGROUND More than 20 genes have been reported to cause idiopathic and familial dilated cardiomyopathy (IDC/FDC), but the frequency of genetic causation remains poorly understood. METHODS AND RESULTS Blood samples were collected and DNA prepared from 313 patients, 183 with FDC and 130 with IDC. Genomic DNA underwent bidirectional sequencing of six genes, and mutation carriers were followed ...
The engineering of cells for the production of fuels and chemicals involves simultaneous optimization of multiple objectives, such as specific productivity, extended substrate range and improved tolerance - all under a great degree of uncertainty. The achievement of these objectives under physiological and process constraints will be impossible without the use of mathematical modeling. However,...
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