Articles with "genetic characteristics" as a keyword



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Genetic characteristics influence the phenotype of marine macroalga Fucus vesiculosus (Phaeophyceae)

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Published in 2023 at "Ecology and Evolution"

DOI: 10.1002/ece3.9788

Abstract: Abstract Intraspecific variation is an important component of heterogeneity in biological systems that can manifest at the genotypic and phenotypic level. This study investigates the influence of genetic characteristics on the phenotype of free‐living Fucus… read more here.

Keywords: influence phenotype; genetic characteristics; fucus vesiculosus; fucus ... See more keywords
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Intratumoral heterogeneity and genetic characteristics of prostate cancer

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Published in 2020 at "International Journal of Cancer"

DOI: 10.1002/ijc.32961

Abstract: Prostate cancer is a heterogeneous disease and optimum gene targeting treatment is often impermissible. We aim to determine the intratumoral genomic heterogeneity of prostate cancer and explore candidate genes for targeted therapy. Exome sequencing was… read more here.

Keywords: cancer; heterogeneity genetic; genetic characteristics; prostate cancer ... See more keywords
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Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

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Published in 2019 at "Journal of Inherited Metabolic Disease"

DOI: 10.1002/jimd.12022

Abstract: Mitochondrial aconitase is the second enzyme in the tricarboxylic acid (TCA) cycle catalyzing the interconversion of citrate into isocitrate and encoded by the nuclear gene ACO2. A homozygous pathogenic variant in the ACO2 gene was… read more here.

Keywords: radiological genetic; clinical radiological; aco2 gene; characteristics patients ... See more keywords
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Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3

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Published in 2020 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1314

Abstract: Homozygous spinocerebellar ataxia type 3 (SCA3) patients, which have an expanded cytosine‐adenine‐guanine (CAG) repeat mutation in both alleles of ATXN3, are extremely rare. Clinical features and genetic characteristics of them were seldom studied. read more here.

Keywords: ataxia type; spinocerebellar ataxia; clinical features; genetic characteristics ... See more keywords
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Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review

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Published in 2020 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1471

Abstract: Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with variable multisystem involvement and genetic heterogeneity. We aimed to analyze the clinical and genetic characteristics of Chinese individuals with CdLS. read more here.

Keywords: characteristics chinese; lange syndrome; clinical genetic; genetic characteristics ... See more keywords
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Genetic Characteristics of Coronaviruses from Korean Bats in 2016

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Published in 2017 at "Microbial Ecology"

DOI: 10.1007/s00248-017-1033-8

Abstract: Bats have increasingly been recognized as the natural reservoir of severe acute respiratory syndrome (SARS), coronavirus, and other coronaviruses found in mammals. However, little research has been conducted on bat coronaviruses in South Korea. In… read more here.

Keywords: characteristics coronaviruses; bat cov; bat; identity bat ... See more keywords
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Analyzing the genetic characteristics of a tryptophan-overproducing Escherichia coli

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Published in 2021 at "Bioprocess and Biosystems Engineering"

DOI: 10.1007/s00449-021-02552-4

Abstract: L-tryptophan (L-trp) production in Escherichia coli has been developed by employing random mutagenesis and selection for a long time, but this approach produces an unclear genetic background. Here, we generated the L-trp overproducer TPD5 by… read more here.

Keywords: escherichia coli; trp; tryptophan overproducing; genetic characteristics ... See more keywords
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Erratum to: The clinical and genetic characteristics in children with mitochondrial disease in China

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Published in 2017 at "Science China Life Sciences"

DOI: 10.1007/s11427-017-9130-4

Abstract: 1.The post code for the fourth address in the affiliation should be 050031.2.Three items are missing in the first row of Table 1. The correct form of the first row is as follows:3.The second “55%”… read more here.

Keywords: erratum clinical; characteristics children; clinical genetic; children mitochondrial ... See more keywords
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Phenotypic and Genetic Characteristics of Lipodystrophy: Pathophysiology, Metabolic Abnormalities, and Comorbidities

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Published in 2018 at "Current Diabetes Reports"

DOI: 10.1007/s11892-018-1099-9

Abstract: Purpose of reviewThis article focuses on recent progress in understanding the genetics of lipodystrophy syndromes, the pathophysiology of severe metabolic abnormalities caused by these syndromes, and causes of severe morbidity and a possible signal of… read more here.

Keywords: phenotypic genetic; lipodystrophy; genetic characteristics; metabolic abnormalities ... See more keywords
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P 39 The genetic characteristics of epileptic encephalopathy in children

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Published in 2017 at "Clinical Neurophysiology"

DOI: 10.1016/j.clinph.2017.06.118

Abstract: Relevance Disclosure of genetic aspects of epilepsy is necessary for a clear understanding of the etiology and pathogenesis of this disease, the search for new ways of correction. Objective to study the molecular and genetic… read more here.

Keywords: epileptic encephalopathy; encephalopathy children; genetic characteristics; state 3184 ... See more keywords
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Clinical and genetic characteristics of epilepsy of infancy with migrating focal seizures in Chinese children

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Published in 2021 at "Epilepsy Research"

DOI: 10.1016/j.eplepsyres.2021.106669

Abstract: OBJECTIVE Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare and severe developmental epileptic encephalopathy. The aim of this study was to improve our understanding of EIMFS by using phenotype-genotype correlation. METHODS We… read more here.

Keywords: infancy migrating; focal seizures; migrating focal; clinical genetic ... See more keywords