Manting Xu
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View article: Iptacopan alleviates serum sickness nephritis after anti- human thymocyte immunoglobulin : One case report and literature review
Iptacopan alleviates serum sickness nephritis after anti- human thymocyte immunoglobulin : One case report and literature review Open
Anti-thymocyte globulin (ATG) is used for the treatment for severe aplastic anemia (SAA). Since ATG is a heterologous serum, it can cause serum sickness nephritis. This article reported one case of SAA comorbidited with hypothyroidism, in …
View article: Numerical model for suction anchor under vertical impact loading
Numerical model for suction anchor under vertical impact loading Open
In marine engineering, suction anchors are widely employed as the supporting foundation for many types of fixed or floating structures. One of the important control conditions for the service of marine foundations is the impact loading in …
View article: Additional file 1 of Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Additional file 1 of Clinical implementation of RNA sequencing for Mendelian disease diagnostics Open
Additional file 1: Table S1. Sample annotation. Table S2. Extended summary of RNA-seq diagnosed cases. Table S3. Summary of candidate genes pinpointed via RNA-seq. Table S4. Summary of WES-diagnosed cases with an RNA-defect. Table S5. Reca…
View article: Generation of an iPSC line from a patient with early-onset epileptic encephalopathy carrying CARS2 (p.G476R) mutation
Generation of an iPSC line from a patient with early-onset epileptic encephalopathy carrying CARS2 (p.G476R) mutation Open
Mutations in CARS2 gene, encoding for the mitochondrial cysteinyl-tRNA synthetase, has been reported to be associated with early-onset epileptic encephalopathy (EOEE). Here, we generated an induced pluripotent stem cell (iPSC) line from th…
View article: Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers’ Syndrome Genotypes
Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers’ Syndrome Genotypes Open
Alpers’ syndrome is an early inceptive neurodegenerative disorder with a poor prognosis, characterized by developmental regression, intractable epilepsy, and hepatic dysfunction. Candidate genes, such as POLG, PARS2, CARS2, FARS2, NARS2, a…
View article: Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient
Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient Open
Objective The cytochrome c oxidase assembly factor 7 ( COA7) gene encodes a protein localized to mitochondria that is involved in the assembly of mitochondrial respiratory chain complex IV. Here, we report the clinical, genetic and biochem…
View article: Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes
Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes Open
Background The spectrum of mitochondrial disease is genetically and phenotypically diverse, resulting from pathogenic variants in over 400 genes, with aerobic energy metabolism defects as a common denominator. Such heterogeneity poses a si…
View article: Corrigendum: Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome
Corrigendum: Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome Open
CORRECTION article Front. Pharmacol., 10 June 2021Sec. Pharmacogenetics and Pharmacogenomics https://doi.org/10.3389/fphar.2021.686933
View article: Identification of a Novel Variant in MT-CO3 Causing MELAS
Identification of a Novel Variant in MT-CO3 Causing MELAS Open
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited mitochondrial disease. Most cases of MELAS are caused by the m.3243A > G variant in the MT-TL1 gene encoding tRNALeu (UUR) . Ho…
View article: Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Clinical implementation of RNA sequencing for Mendelian disease diagnostics Open
Background Lack of functional evidence hampers variant interpretation, leaving a large proportion of cases with a suspected Mendelian disorder without genetic diagnosis after genome or whole exome sequencing (WES). Research studies advocat…
View article: Whole genome and exome sequencing identify <i>NDUFV2</i> mutations as a new cause of progressive cavitating leukoencephalopathy
Whole genome and exome sequencing identify <i>NDUFV2</i> mutations as a new cause of progressive cavitating leukoencephalopathy Open
Background Progressive cavitating leukoencephalopathy (PCL) is thought to result from mutations in nuclear genes affecting mitochondrial function and energy metabolism. To date, mutations in two subunits of complex I, NDUFS1 and NDUFV1 , h…
View article: Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome
Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome Open
3-Hydroxyisobutyryl-CoA hydrolase ( HIBCH , NM_014362.3) gene mutation can cause HIBCH deficiency, leading to Leigh/Leigh-like disease. To date, few case series have investigated the relationship between metabolites and clinical phenotypes…
View article: Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation
Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation Open
Epileptic encephalopathy, caused by mutations in the dynamin-1 (DNM1; NM_004408) gene, is a newly identified neurologic disorder in children. Thus far, the full clinical and electroencephalographic features of children with DNM1 mutation-r…