☆ 4.4 Article

Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay

MOLECULAR GENETICS & GENOMIC MEDICINE (2022)

相关参考文献

注意：仅列出部分参考文献，下载原文获取全部文献信息。

Article Endocrinology & Metabolism

Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children

Pranav Machiraju et al.

Summary: DCMA is an autosomal recessive mitochondrial disease caused by mutations in the DNAJC19 gene, with a higher prevalence in the Hutterite population of southern Alberta. Patients often present with various complications such as cardiomyopathy, developmental delay, and the early mortality rate is relatively high.

JOURNAL OF INHERITED METABOLIC DISEASE (2022)

添加到收藏夹

Review Medical Laboratory Technology

Inborn errors of metabolism associated with 3-methylglutaconic aciduria

Dylan E. Jones et al.

Summary: 3-Methylglutaconic aciduria is a rare phenotypic feature associated with inborn errors of metabolism and compromised mitochondrial energy metabolism. It can be categorized into primary and secondary forms, with primary 3MGC aciduria resulting from deficiencies in leucine catabolism enzymes, and secondary 3MGC aciduria caused by the diversion of acetyl CoA due to interference with the TCA cycle. Through a series of biochemical processes, these two forms of 3MGC aciduria ultimately lead to the excretion of 3MGC acid in urine, serving as an overflow valve in muscle/brain tissue to redirect acetyl CoA when necessary.

CLINICA CHIMICA ACTA (2021)

添加到收藏夹

Article Cell Biology

Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish

Muhammad Umair et al.

Summary: In this study, a large consanguineous family of Saudi origin with a complex developmental syndrome inherited in an autosomal recessive fashion was described. A homozygous missense variant in the VWA8 gene was identified and associated with global developmental delay, microcephaly, scoliosis, limbs, and cardiovascular malformations in humans. Genetic and molecular evidence using zebrafish morpholinos supported this finding.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)

添加到收藏夹

Article Genetics & Heredity

Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

Majid Alfadhel et al.

Summary: Ciliopathies are a heterogeneous group of disorders caused by mutations in ciliary proteins, with sequence variations in these genes associated with multisystem disorders. This study identified a severe ciliopathy disorder in a nonconsanguineous Saudi family, with a homozygous splice site variant in the TTC26 gene found to perfectly cosegregate with the disease phenotype. The study further supports the evidence that homozygous variants in the TTC26 gene can lead to severe ciliopathies with diverse phenotypes.

MOLECULAR SYNDROMOLOGY (2021)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Reversible Mitochondrial Fragmentation in iPSC-Derived Cardiomyocytes From Children With DCMA, a Mitochondrial Cardiomyopathy

Leili Rohani et al.

CANADIAN JOURNAL OF CARDIOLOGY (2020)

添加到收藏夹

Article Clinical Neurology

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

Abdulaziz Asiri et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2020)

添加到收藏夹

Review Biochemistry & Molecular Biology

Cardiolipin remodeling in Barth syndrome and other hereditary cardiomyopathies

Edoardo Bertero et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2020)

添加到收藏夹

Review Biology

Metabolic Alterations Caused by Defective Cardiolipin Remodeling in Inherited Cardiomyopathies

Christina Wasmus et al.

LIFE-BASEL (2020)

添加到收藏夹

Article Clinical Neurology

Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

Majid Alfadhel et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2019)

添加到收藏夹

Review Medicine, Research & Experimental

Diagnosing rare diseases after the exome

Laure Fresard et al.

COLD SPRING HARBOR MOLECULAR CASE STUDIES (2018)

添加到收藏夹

Article Clinical Neurology

Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJCI9 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome

Amal Al Teneiji et al.

PEDIATRIC NEUROLOGY (2016)

添加到收藏夹

Review Cardiac & Cardiovascular Systems

Mitochondrial Cardiomyopathies

Ayman W. El-Hattab et al.

FRONTIERS IN CARDIOVASCULAR MEDICINE (2016)

添加到收藏夹

Article Cell Biology

DNAJC19, a Mitochondrial Cochaperone Associated with Cardiomyopathy, Forms a Complex with Prohibitins to Regulate Cardiolipin Remodeling

Ricarda Richter-Dennerlein et al.

CELL METABOLISM (2014)

添加到收藏夹

Article Pediatrics

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies

Tiina Ojala et al.

PEDIATRIC RESEARCH (2012)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein

Rebecca Sparkes et al.

CARDIOLOGY IN THE YOUNG (2007)

添加到收藏夹

Article Genetics & Heredity

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

KM Davey et al.

JOURNAL OF MEDICAL GENETICS (2006)

添加到收藏夹

© Peeref 2019-2024. All rights reserved.