Bruce D. Gelb
A5086328119- Congenital heart defects research
- Protein Tyrosine Phosphatases
- Congenital Heart Disease Studies
- Galectins and Cancer Biology
- Genomics and Rare Diseases
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Peptidase Inhibition and Analysis
- Cardiomyopathy and Myosin Studies
- Connective tissue disorders research
- Genetic Associations and Epidemiology
- Bone Metabolism and Diseases
- BRCA gene mutations in cancer
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Cancer Genomics and Diagnostics
- Metabolism and Genetic Disorders
- Coronary Artery Anomalies
- PI3K/AKT/mTOR signaling in cancer
- Prenatal Screening and Diagnostics
- Genomics and Chromatin Dynamics
- Cardiac Valve Diseases and Treatments
- Ethics in Clinical Research
- Cardiovascular Function and Risk Factors
- Mitochondrial Function and Pathology
Icahn School of Medicine at Mount Sinai
2016-2025
Child Health and Development Institute
2016-2025
Pediatrics and Genetics
2016-2025
Illumina (United States)
2025
Sarah Lawrence College
2025
23andMe (United States)
2025
Northwestern University
2023
Mount Sinai Hospital
2023
RELX Group (United States)
2023
Antwerp University Hospital
2022
Pycnodysostosis, an autosomal recessive osteochondrodysplasia characterized by osteosclerosis and short stature, maps to chromosome 1q21. Cathepsin K, a cysteine protease gene that is highly expressed in osteoclasts, localized the pycnodysostosis region. Nonsense, missense, stop codon mutations encoding cathepsin K were identified patients. Transient expression of complementary DNA containing mutation resulted messenger RNA but no immunologically detectable protein. Thus, results from...
Putting both heart and brain at risk For reasons that are unclear, newborns with congenital disease (CHD) have a high of neurodevelopmental disabilities. Homsy et al. performed exome sequence analysis 1200 CHD patients their parents to identify spontaneously arising (de novo) mutations. Patients disorders had much higher burden damaging de novo mutations, particularly in genes likely roles development. Thus, clinical genotyping may help those greatest disabilities, allowing surveillance...
BACKGROUND X-linked cardiomyopathy (XLCM) is a rapidly progressive primary myocardial disorder presenting in teenage males as congestive heart failure. Manifesting female carriers have later onset (fifth decade) and slower progression. The purpose of this study was to localize the XLCM gene locus two families using molecular genetic techniques. METHODS AND RESULTS Linkage analysis 60 X-chromosome-specific DNA markers performed previously reported large pedigree smaller new pedigree....
Aortic-root dissection is the leading cause of death in Marfan's syndrome. Studies suggest that with regard to slowing aortic-root enlargement, losartan may be more effective than beta-blockers, current standard therapy most centers.
BACKGROUND The diagnosis of viral myocarditis remains difficult and generally depends on clinical histological criteria. Viral cultures serology are often unrewarding, with low yields. purpose this study was to analyze the usefulness polymerase chain reaction (PCR) in rapid acute children. METHODS AND RESULTS PCR used 38 myocardial tissue samples from 34 patients suspected 17 control congenital heart disease (14) or hypertrophic cardiomyopathy (3). Myocardial were obtained at time right...
Aberrant signal transduction contributes substantially to leukemogenesis. The Janus kinase 1 (JAK1) gene encodes a cytoplasmic tyrosine that noncovalently associates with variety of cytokine receptors and plays nonredundant role in lymphoid cell precursor proliferation, survival, differentiation. We report somatic mutations JAK1 occur individuals acute lymphoblastic leukemia (ALL). were more prevalent among adult subjects the T ALL, where they accounted for 18% cases, associated advanced age...