A5068797086- Blood disorders and treatments
- Immunodeficiency and Autoimmune Disorders
- Acute Myeloid Leukemia Research
- Congenital heart defects research
- Pneumocystis jirovecii pneumonia detection and treatment
- Underwater Acoustics Research
- Zebrafish Biomedical Research Applications
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Marine animal studies overview
- Physiological and biochemical adaptations
- RNA modifications and cancer
- Computational Drug Discovery Methods
- Neutropenia and Cancer Infections
- Wnt/β-catenin signaling in development and cancer
- Invertebrate Immune Response Mechanisms
- Hippo pathway signaling and YAP/TAZ
- Vibrio bacteria research studies
- Aquaculture Nutrition and Growth
- Erythrocyte Function and Pathophysiology
- Nutrition, Genetics, and Disease
- Hemoglobinopathies and Related Disorders
- Cancer-related Molecular Pathways
- Proteoglycans and glycosaminoglycans research
- Infective Endocarditis Diagnosis and Management
- Blood groups and transfusion
Cleveland Clinic
2020-2025
University of the Basque Country
2021-2023
Cleveland Clinic Lerner College of Medicine
2022
Case Western Reserve University
2022
Virginia Commonwealth University
2016-2020
Children's Hospital of Richmond at VCU
2017-2020
Northwestern University
2015-2020
Virginia Cancer Institute
2015
VCU Massey Comprehensive Cancer Center
2015
Tecnalia
2009-2014
Shwachman-Diamond syndrome is a rare inherited bone marrow failure characterized by neutropenia, exocrine pancreatic insufficiency, and skeletal abnormalities. In 10-30% of cases, transformation to myeloid neoplasm occurs. Approximately 90% patients have biallelic pathogenic variants in the SBDS gene located on human chromosome 7q11. Over past several years, three other genes been identified cause similar phenotypes; these are DNAJC21, EFL1, SRP54. Clinical manifestations involve multiple...
Shwachman-Diamond syndrome (SDS) is characterized by neutropenia, exocrine pancreatic insufficiency, and bony abnormalities with an increased risk of myeloid neoplasia. Almost all cases SDS result from biallelic mutations in SBDS. SBDS interacts EFL1 to displace EIF6 the 60S ribosomal subunit. Released permits assembly large small subunits cytoplasm. Decreased levels due haploinsufficiency or missense which lead decreased protein expression may provide a somatic genetic rescue anti-leukemic...
We evaluated the use of gnotobiotic zebrafish system to study effects bacterial infection, and analyzed expression genes involved in innate immunity. Using a GFP-labeled strain Vibrio anguillarum, we fluorescently monitored colonization intestinal tract used gene analysis compare changes immunity between nongnotobiotic larvae. The experiments performed with reveal new insights into V. anguillarum pathogenesis. Specifically, an alteration host immune was detected through suppression number...
The present study was carried out to examine the use of zebrafish (Danio rerio) as a preliminary screening model for testing effect potential immunostimulant substances on innate immune system. β-Glucan, polysaccharide used widely an immunostimulant, representative molecule and tested embryos larvae. efficacy evaluated by determining differential expression some selected genes related system RT-qPCR. Larvae from 72 hours post fertilization were found at optimal developmental stage assessing...
Summary Shwachman–Diamond syndrome (SDS) is characterized by neutropenia, exocrine pancreatic insufficiency and skeletal abnormalities. SDS bone marrow haematopoietic progenitors show increased apoptosis impairment in granulocytic differentiation. Loss of Shwachman–Bodian–Diamond ( SBDS ) expression results reduced eukaryotic 80S ribosome maturation. Biallelic mutations the gene are found ~90% patients, ~55% whom carry c.183‐184TA>CT nonsense mutation. Several translational...
Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic insufficiency, neutropenia, and skeletal abnormalities. Biallelic mutations in SBDS, which encodes a ribosome maturation factor, are found 90% of SDS cases. Sbds–/– mice embryonic lethal. Using CRISPR/Cas9 editing, we created sbds-deficient zebrafish strains. Sbds protein levels progressively decreased became undetectable at 10 days postfertilization (dpf). Polysome analysis revealed 80S ribosomes. Homozygous mutant...
Commercial fisheries have increased in all the world’s oceans with diverse unintended impacts on marine ecosystems. As a result of resource overlap, interactions between cetaceans and are common occurrence and, many cases, can give rise to significant conservation issues. Research distribution types such is important for efficient management. In this study, we describe behaviors two whale species: sperm whales ( Physeter macrocephalus ) northern bottlenose Hyperoodon ampullatus ),...
Abstract Pathologic variants in TP53 are known risk factors for the development of cancer. We report a 17‐year‐old male who presented with two primary sarcomas. Germline sequencing revealed novel c.672 G>A mutation. Sequencing wild‐type parents, and there was no history cancer first‐degree relatives. This de novo synonymous germline mutation results 5′ cryptic splice site that is bound by U1, resulting shift 5 base pairs. The frame truncated protein at residue 246, which disrupts...
Abstract Commercial fisheries have increased in all the world’s oceans with diverse unintended impacts on marine ecosystems. As a result of resource overlap, interactions between cetaceans and are common occurrence and, many cases, these give rise to significant conservation issues. Research distribution types such is important for efficient management. In this study, we describe behaviors two whale species: sperm whales ( Physeter macrocephalus ) northern bottlenose Hyperoodon ampullatus ),...
Defects in ribosomal biogenesis profoundly affect organismal development and cellular function, these ribosomopathies produce a variety of phenotypes. One ribosomopathy, Shwachman–Diamond syndrome (SDS) is characterized by neutropenia, pancreatic exocrine insufficiency, skeletal anomalies. SDS results from biallelic mutations SBDS , which encodes ribosome assembly factor. Some individuals express missense mutation, R126T along with the common K62X mutation. We reported that sbds -null...
Heperan sulfate proteoglycans (HSPGs) are constituents of the cell surface and extracellular matrix vital for various activities within cell. The N-deacetylase/N-sulfotransferase (heparin glucosaminyl) family enzymes, or NDST, modifies heparan (HS) by catalyzing both N-deacetylation N-sulfation N-acetylglucosamine residues. In zebrafish, a single ndst3 gene is an orthologue mammalian NDST3 NDST4 genes. role in zebrafish development has not been investigated such study may provide insight...