Articles with "ttn" as a keyword



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Understanding Titin Variants in the Age of Next-Generation Sequencing-A Titanic Challenge.

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Published in 2018 at "JAMA neurology"

DOI: 10.1001/jamaneurol.2017.3068

Abstract: The titin gene (TTN), with its 364 exons, encodes the largest human protein. It gives rise to a dizzying array of alternatively spliced isoforms differentially expressed in various skeletal muscles, heart, and in development. Titin… read more here.

Keywords: challenge; ttn; gene; next generation ... See more keywords
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Novel trunk trap net designs for the control of Eucryptorrhynchus scrobiculatus (Coleoptera: Curculionidae).

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Published in 2019 at "Pest management science"

DOI: 10.1002/ps.5356

Abstract: BACKGROUND Eucryptorrhynchus scrobiculatus is a major pest of tree of heaven, Ailanthus altissima, in China. Damage caused by E. scrobiculatus has increased as beetle populations have expanded. We developed a trunk trap net (TTN) and… read more here.

Keywords: using ttn; eucryptorrhynchus scrobiculatus; trunk trap; ttn ... See more keywords
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Functional impact of titin (TTN) mutations in ocular surface squamous neoplasia.

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Published in 2021 at "International journal of biological macromolecules"

DOI: 10.1016/j.ijbiomac.2021.11.120

Abstract: Mutations in the titin (TTN) gene are among the most common genomic aberrations in ocular surface squamous neoplasia (OSSN), the most common cancer of the external eye. Further, TTN mutations are associated with resistance to… read more here.

Keywords: ocular surface; ttn; ttn mutations; squamous neoplasia ... See more keywords
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Biochemical and Structural Characterization of TtnD, a Prenylated FMN-Dependent Decarboxylase from the Tautomycetin Biosynthetic Pathway.

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Published in 2018 at "ACS chemical biology"

DOI: 10.1021/acschembio.8b00673

Abstract: Tautomycetin (TTN) is a polyketide natural product featuring a terminal alkene. Functional characterization of the genes within the ttn gene cluster from Streptomyces griseochromogenes established the biosynthesis of the TTN polyketide backbone, its dialkylmaleic anhydride… read more here.

Keywords: ttnd; dependent decarboxylase; ttn; biochemical structural ... See more keywords
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Genotype–phenotype correlations in recessive titinopathies

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Published in 2020 at "Genetics in Medicine"

DOI: 10.1038/s41436-020-0914-2

Abstract: High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study… read more here.

Keywords: recessive titinopathies; genotype phenotype; phenotype correlations; ttn ... See more keywords
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LncRNA TTN-AS1 Regulates miR-524-5p and RRM2 to Promote Breast Cancer Progression

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Published in 2020 at "OncoTargets and therapy"

DOI: 10.2147/ott.s243482

Abstract: Background Recent studies suggest many long non-coding RNAs (lncRNAs) are crucial oncogenes or tumor suppressors. This study intended to investigate the biological function and mechanism of lncRNA TTN antisense RNA 1 (TTN-AS1) in the progression… read more here.

Keywords: expression; mir 524; rrm2; ttn ... See more keywords
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CRISPR Detection and Research on Screening Mutant Gene TTN of Moyamoya Disease Family Based on Whole Exome Sequencing

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Published in 2022 at "Frontiers in Molecular Biosciences"

DOI: 10.3389/fmolb.2022.846579

Abstract: Moyamoya disease (MMD) has a high incidence in Asian populations and demonstrates some degree of familial clustering. Whole-exome sequencing (WES) is useful in establishing key related genes in familial genetic diseases but is time-consuming and… read more here.

Keywords: disease; ttn; whole exome; moyamoya disease ... See more keywords
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Gene Mutations Related to Glucocorticoid Resistance in Pediatric Acute Lymphoblastic Leukemia

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Published in 2022 at "Frontiers in Pediatrics"

DOI: 10.3389/fped.2022.831229

Abstract: Objective To investigate the correlation between gene mutations and glucocorticoid resistance in pediatric acute lymphoblastic leukemia (ALL). Methods A total of 71 children with ALL admitted to our center between September 2019 and September 2021… read more here.

Keywords: gene mutations; glucocorticoid resistance; ttn; resistance pediatric ... See more keywords
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Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes

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Published in 2022 at "Journal of Personalized Medicine"

DOI: 10.3390/jpm12020241

Abstract: The titin gene (TTN) is associated with several diseases, including inherited arrhythmias. Most of these diagnoses are attributed to rare TTN variants encoding truncated forms, but missense variants represent a diagnostic challenge for clinical genetics.… read more here.

Keywords: missense ttn; role; ttn variants; ttn ... See more keywords
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Prediction of the Course of Transient Tachypnea of the Newborn by Blood Laboratory Parameters at the Time of Admission

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Published in 2021 at "Iranian Journal of Pediatrics"

DOI: 10.5812/ijp.112224

Abstract: Background: Transient tachypnea of the newborn (TTN) is a common but mild respiratory problem seen in late preterm and term newborns. However, it may sometimes cause severe morbidity. Objectives: Therefore, biomarkers that can predict TTN… read more here.

Keywords: ttn; tachypnea newborn; blood; transient tachypnea ... See more keywords