mRNA analysis revealed a novel pathogenic EIF2S3 variant causing MEHMO syndrome

AbstractPLA2G6 is the causative gene for a group of autosomal recessive neurodegenerative disorders known as PLA2G6-associated neurodegeneration (PLAN). We present a case with early-onset parkinsonism, ataxia, cognitive decline, cerebellar atrophy, and brain iron accumulation. Sequencing of PLA2G6 coding regions identified only a heterozygous nonsense variant, but mRNA analysis revealed the presence of an aberrant transcript isoform due to a novel deep intronic variant (c.2035-274G > A) leading to activation of an intronic pseudo-exon. These results expand the genotypic spectrum of PLAN, showing the paramount importance of detecting possible pathogenic variants in deep intronic regions in undiagnosed patients.

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Integrated miRNA-mRNA analysis provides potential biomarkers for selective breeding in bay scallop (Argopecten irradians)

Genomics ◽

10.1016/j.ygeno.2021.05.040 ◽

2021 ◽

Author(s):

Tanjun Zhao ◽

Shengqi Ding ◽

Zhenlin Hao ◽

Xubo Wang ◽

Yaoyao Zhan ◽

...

Keyword(s):

Selective Breeding ◽

Argopecten Irradians ◽

Bay Scallop ◽

Mrna Analysis ◽

Potential Biomarkers

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Integrated microRNA–mRNA analysis reveals the roles of microRNAs in the muscle fat metabolism of Yanbian cattle

Animal Genetics ◽

10.1111/age.13126 ◽

2021 ◽

Author(s):

J. S. Zhang ◽

H. Y. Xu ◽

J. C. Fang ◽

B. Z. Yin ◽

B. B. Wang ◽

...

Keyword(s):

Fat Metabolism ◽

Mrna Analysis

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Evidence for qualified quantitative mRNA analysis in formalin-fixed and paraffin-embedded colorectal carcinoma cells and tissue

Journal of Clinical Laboratory Analysis ◽

10.1002/jcla.20451 ◽

2011 ◽

Vol 25 (3) ◽

pp. 166-173 ◽

Cited By ~ 6

Author(s):

Xiaobo Lu ◽

Tahar van der Straaten ◽

Marco Tiller ◽

Xiaoxia Li

Keyword(s):

Colorectal Carcinoma ◽

Carcinoma Cells ◽

Mrna Analysis ◽

Formalin Fixed

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Differential regulation of two distinct families of glucose transporter genes in Trypanosoma brucei.

Molecular and Cellular Biology ◽

10.1128/mcb.13.2.1146 ◽

1993 ◽

Vol 13 (2) ◽

pp. 1146-1154 ◽

Cited By ~ 59

Author(s):

F Bringaud ◽

T Baltz

Keyword(s):

Trypanosoma Brucei ◽

Xenopus Oocytes ◽

Glucose Transporter ◽

Protein S ◽

Life Cycle Stage ◽

Good Target ◽

Hexose Transporters ◽

Moderate Sensitivity ◽

Mrna Analysis

A tandemly arranged multigene family encoding putative hexose transporters in Trypanosoma brucei has been characterized. It is composed of two 80% homologous groups of genes called THT1 (six copies) and THT2 (five copies). When Xenopus oocytes are microinjected with in vitro-transcribed RNA from a THT1 gene, they express a glucose transporter with properties similar to those of the trypanosome bloodstream-form protein(s). This THT1-encoded transport system for glucose differs from the human erythrocyte-type glucose transporter by its moderate sensitivity to cytochalasin B and its capacity to transport D-fructose. These properties suggest that the trypanosomal transporter may be a good target for antitrypanosomal drugs. mRNA analysis revealed that expression of these genes was life cycle stage dependent. Bloodstream forms express 40-fold more THT1 than THT2. In contrast, procyclic trypanosomes express no detectable THT1 but demonstrate glucose-dependent expression of THT2.

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