A5089408804- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
- Diet and metabolism studies
- Genetics and Neurodevelopmental Disorders
- Adipose Tissue and Metabolism
- Genomics and Rare Diseases
- Biochemical Acid Research Studies
- Urological Disorders and Treatments
- RNA Research and Splicing
- Biochemical and Molecular Research
- Epigenetics and DNA Methylation
- Amino Acid Enzymes and Metabolism
- Congenital Heart Disease Studies
- RNA modifications and cancer
- Coenzyme Q10 studies and effects
- RNA and protein synthesis mechanisms
- Infectious Encephalopathies and Encephalitis
- Ion Transport and Channel Regulation
- Congenital Anomalies and Fetal Surgery
- Liver Disease Diagnosis and Treatment
- Long-Term Effects of COVID-19
- Ubiquitin and proteasome pathways
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
University of Wisconsin American Family Children's Hospital
2025
West Virginia University
2024
Icahn School of Medicine at Mount Sinai
1993-2024
Central Drug Research Institute
2023
New York Proton Center
2019
Children's Hospital of Michigan
2011-2014
Duke Medical Center
2014
Duke University
2014
Wayne State University
2011-2014
Sanjay Gandhi Post Graduate Institute of Medical Sciences
2007-2011
Abstract ARGONAUTE-2 and associated miRNAs form the RNA-induced silencing complex (RISC), which targets mRNAs for translational degradation as part of RNA interference pathway. Despite essential nature this process cellular function, there is little information on role RISC components in human development organ function. We identify 13 heterozygous mutations AGO2 21 patients affected by disturbances neurological development. Each identified single amino acid result impaired shRNA-mediated...
Mitochondrial DNA (mtDNA) maintenance defects are a group of diseases caused by deficiency proteins involved in mtDNA synthesis, mitochondrial nucleotide supply, or dynamics. One the is MPV17, which inner membrane protein importing deoxynucleotides into mitochondria. In 2006, pathogenic variants MPV17 were first reported to cause infantile-onset hepatocerebral depletion syndrome and Navajo neurohepatopathy. To date, 75 individuals with MPV17-related defect have been 39 different variants....
Recessive mutations in SLC25A1 encoding mitochondrial citrate carrier cause a rare inherited metabolic disorder, combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA), characterized by epileptic encephalopathy, respiratory insufficiency, developmental arrest and early death. Here, we describe two siblings compound heterozygotes for null/missense mutations, c.18_24dup (p.Ala9Profs*82), c.134C>T (p.Pro45Leu). These children presented with classic clinical features of D,L-2-HGA, but also showed...
KCNJ16 encodes K
In eukaryotic cells, mitochondria perform the essential function of producing cellular energy in form ATP via oxidative phosphorylation system. This system is composed 5 multimeric protein complexes which 13 subunits are encoded by mitochondrial genome: Complex I (7 subunits), III (1 subunit), IV (3 and V (2 subunits). Effective translation necessary to produce genome (mtDNA). Defects known cause a wide variety clinical disease humans with high-energy consuming organs generally most...
Whole genome and exome sequencing have revolutionized our understanding of the molecular basis neurodevelopmental disorders. Many disorders unknown etiology or previously attributed to chromosomal structural variation now been characterized molecularly. We describe here a patient with known 16p13.11 microdeletion who was found biallelic in NCOR2 encoding nuclear receptor corepressor 2 (NCOR2). interacts MECP2 is strong candidate gene for disorder Rett syndrome like phenotype. 15-year-old...
encodes eukaryotic elongation factor 2 which catalyzes the phase of protein translation. It is ubiquitously expressed and important for neuronal function.
Hypertrophic cardiomyopathy (HCM) is a well-known manifestation of inherited mitochondrial disease. Still, currently available gene panels do not include genome sequencing. Mitochondrial dysfunction plays very important role in the pathogenesis HCM, whether tested positive or negative by for HCM. DNA variations may act as modifiers disease genotype-positive individuals. In genotype-negative individuals, it be primary driver pathogenesis. A recent study has demonstrated that correlated with...
Abstract Fraser syndrome (OMIM 219000) is a rare, autosomal recessive disorder characterized by cryptophthalmos, cutanaeous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation musculoskeletal anomalies. There marked interfamilial clinical heterogeneity. However, there strong phenotypic similarity concordance degree severity disease within family. We report family with two cases One case had lethal phenotype...
Acute focal neurologic deficits are a rare but known presentation of ornithine transcarbamylase deficiency, particularly in females. We describe here 6-year-old girl with newly diagnosed deficiency who presents an episode acute cortical blindness lasting for 72 hours the absence hyperammonemia. Her symptoms were associated subcortical low-intensity lesion overlying hyperintensity on fluid-attenuated inversion recovery magnetic resonance imaging (MRI) occipital lobes. reversible vision loss...
The aim of the study was to distribution angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism, and its association with steroid responsiveness in children idiopathic nephrotic syndrome (INS). One hundred twenty-five INS were classified into two groups: steroid-sensitive (SSNS: n = 90) steroid-resistant (SRNS: n=35). control group consisted 150 unrelated healthy children. Genomic DNA extracted from peripheral leucocytes by standard salting-out method. ACE genotyping...
Limb body wall complex (LBWC) is a rare clinicopathological entity, representing compound anomaly pattern in ventral defects. The authors report case of LBWC diagnosed early antenatal period. pregnancy was terminated following the diagnosis. Fetal autopsy findings were typical LBWC.
Lathosterolosis is an extremely rare disorder of cholesterol metabolism, which manifests as developmental delays, microcephaly, facial dysmorphism, cataract, and skeletal defects (1). Liver involvement variable can range from prenatal hepatopathy to postnatal progressive intrahepatic cholestasis. It caused by deficiency enzyme sterol-C5- desaturase encoded SC5D gene, catalyzes conversion lathosterol 7-dehydrocholesterol, the second last step in biosynthesis. inherited autosomal recessive...
<b><i>Background:</i></b> The pathophysiology of intraventricular hemorrhage (IVH) is multifactorial. This study attempts to identify genetic and clinical factors contributing IVH in newborns with a focus on those born ≤28 weeks gestation. <b><i>Methods:</i></b> was prospective 382 consecutive admitted the neonatal intensive care unit. DNA purification conducted using standard methods. TaqMan SNP assays were for functional polymorphisms...