A5035657425- Metabolism and Genetic Disorders
- Peroxisome Proliferator-Activated Receptors
- Amino Acid Enzymes and Metabolism
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Retinal Development and Disorders
- Mitochondrial Function and Pathology
- Folate and B Vitamins Research
- Cancer, Hypoxia, and Metabolism
- Genetics and Neurodevelopmental Disorders
- Genetic Associations and Epidemiology
- RNA regulation and disease
- Polyamine Metabolism and Applications
- Neonatal Health and Biochemistry
- RNA Research and Splicing
- Cancer-related gene regulation
- BRCA gene mutations in cancer
- Congenital heart defects research
- Cancer Genomics and Diagnostics
- Aldose Reductase and Taurine
- Metabolism, Diabetes, and Cancer
- Lysosomal Storage Disorders Research
- Pancreatic function and diabetes
- Nitric Oxide and Endothelin Effects
Johns Hopkins University
2015-2024
Johns Hopkins Medicine
2015-2024
Johns Hopkins Hospital
1981-2022
Chonnam National University
2018
University of Maryland, Baltimore
1994-2013
Icahn School of Medicine at Mount Sinai
2013
Center for Human Genetics
2013
Northwestern University
2013
Marshfield Clinic
2013
University of Chicago Medical Center
2013
A network of disorders and disease genes linked by known disorder–gene associations offers a platform to explore in single graph-theoretic framework all phenotype gene associations, indicating the common genetic origin many diseases. Genes associated with similar show both higher likelihood physical interactions between their products expression profiling similarity for transcripts, supporting existence distinct disease-specific functional modules. We find that essential human are likely...
Here, we describe an overview and update on GeneMatcher (http://www.genematcher.org), a freely accessible Web-based tool developed as part of the Baylor-Hopkins Center for Mendelian Genomics. We created with goal identifying additional individuals rare phenotypes who had variants in same candidate disease gene. also wanted to facilitate connections basic scientists working orthologous genes model systems connecting their work human phenotypes. Meeting these goals will enhance identification...
The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing disease-causing sequence from the many potentially functional present in any human genome are urgently needed. Without rigorous standards we risk an acceleration false-positive reports causality, which would impede translation genomic research findings into clinical diagnostic setting hinder biological understanding disease. Here discuss key challenges assessing disease, integrating both...
Although microRNAs (miRNAs) provide a newly recognized level of regulation gene expression, the miRNA transcriptome retina and contributions miRNAs to retinal development function are largely unknown. To begin understand functions in retina, we compared expression profiles adult mouse brain, heart by microarray analysis. Our results show that at least 78 expressed 21 which potentially retina-specific. Among these, identified polycistronic, sensory organ-specific paralogous cluster includes...
Nonsense mutations create a premature signal for the termination of translation messenger RNA. Such have been observed to cause severe reduction in amount mutant allele transcript or generate peptide truncated at carboxyl end. Analysis fibrillin from patient with Marfan syndrome revealed skipping constitutive exon containing nonsense mutation. Similar results were two gene encoding ornithine δ-aminotransferase patients gyrate atrophy. All genomic DNA sequences flanking these exons that are...
Albright's hereditary osteodystrophy is an autosomal dominant disorder characterized by a short stature, brachydactyly, subcutaneous ossifications, and reduced expression or function of the α subunit stimulatory G protein (Gsα) adenylate cyclase, which necessary for action parathyroid other hormones that use cyclic AMP as intracellular second messenger.
AbstractMicroRNAs (miRNAs), an important class of small regulatory molecules for gene expression, are transcribed by RNA polymerase II. But little is known about the mechanisms that control miRNA expression. Comparing expression profiles between colon cancer cell line HCT 116 and its derivative, DNA methyltransferase 1 3b (DNMT1 DNMT3b) double knockout line, we found 10% miRNAs was regulated methylation. In addition, neither 5-aza-2′-deoxycytidine treatment nor deletion DNMT1 alone...
Genomic technologies such as next-generation sequencing (NGS) are revolutionizing molecular diagnostics and clinical medicine. However, these approaches have proven inefficient at identifying pathogenic repeat expansions. Here, we apply a collection of bioinformatics tools that can be utilized to identify either known or novel expanded sequences in NGS data. We performed genetic studies cohort 35 individuals from 22 families with diagnosis cerebellar ataxia neuropathy bilateral vestibular...
We need technology and an ethical framework for genome-scale engineering
Mammalian cells typically contain hundreds of peroxisomes but can increase peroxisome abundance further in response to extracellular stimuli. We report here the identification and characterization two novel human peroxisomal membrane proteins, PEX11α PEX11β. Overexpression <i>PEX11</i>β gene alone was sufficient induce proliferation, demonstrating that proliferation occur absence stimuli may be mediated by a single gene. Time course studies indicated PEX11β induces through multistep process...