Manuel L. Gonzalez‐Garay
A5075852200- Microtubule and mitosis dynamics
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Sarcoidosis and Beryllium Toxicity Research
- RNA modifications and cancer
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Lymphatic System and Diseases
- Cancer Genomics and Diagnostics
- Genomics and Phylogenetic Studies
- Pulmonary Hypertension Research and Treatments
- Chromosomal and Genetic Variations
- Genetic factors in colorectal cancer
- Cancer Treatment and Pharmacology
- Pluripotent Stem Cells Research
- Genetics and Neurodevelopmental Disorders
- Tuberculosis Research and Epidemiology
- 14-3-3 protein interactions
- Genetic Associations and Epidemiology
- Sepsis Diagnosis and Treatment
- Lymphatic Disorders and Treatments
- Neonatal Respiratory Health Research
- Complement system in diseases
- Neonatal Health and Biochemistry
- Monoclonal and Polyclonal Antibodies Research
- Fungal Infections and Studies
City of Hope
2023
University of Arizona
2016-2022
Brown Foundation
2013-2016
The University of Texas Health Science Center at Houston
2013-2016
Institute for Molecular Medicine
2016
Baylor College of Medicine
2004-2014
California Institute of Technology
2006
National Institute of Dental and Craniofacial Research
2006
Stazione Zoologica Anton Dohrn
2006
National Institutes of Health
2006
We report the sequence and analysis of 814-megabase genome sea urchin Strongylocentrotus purpuratus , a model for developmental systems biology. The sequencing strategy combined whole-genome shotgun bacterial artificial chromosome (BAC) sequences. This use BAC clones, aided by pooling strategy, overcame difficulties associated with high heterozygosity genome. encodes about 23,300 genes, including many previously thought to be vertebrate innovations or known only outside deuterostomes....
Highlights•We corrected the mutant CFTR gene in cystic fibrosis iPSCs•Correction restored protein expression and function iPSC-derived epithelial cells•We observed an exquisitely sensitive, homology-dependent, allele-preferred targetingSummaryRecently developed reprogramming genome editing technologies make possible derivation of patient-specific pluripotent stem cell sources—potentially useful for development new therapeutic approaches. Starting with skin fibroblasts from patients diagnosed...
Precision medicine, taking account of human individuality in genes, environment, and lifestyle for early disease diagnosis individualized therapy, has shown great promise to transform medical care. Nontargeted metabolomics, with the ability detect broad classes biochemicals, can provide a comprehensive functional phenotype integrating clinical phenotypes genetic nongenetic factors. To test application metabolomics individual diagnosis, we conducted analysis on plasma samples collected from...
Mutations in gene RASA1 have been historically associated with capillary malformation–arteriovenous malformation, but sporadic reports of lymphatic involvement yet to be investigated detail. To investigate the impact mutations system, we performed investigational near-infrared fluorescence imaging and confirmatory radiographic lymphangiography a Parkes–Weber syndrome (PKWS) patient suspected correlated abnormalities against that imaged an inducible Rasa1 knockout mouse. Whole-exome...
Analysis of β-tubulin alleles from nine paclitaxel-resistant Chinese hamster ovary cell lines revealed an unexpected cluster mutations affecting Leu-215, Leu-217, and Leu-228. Six the mutant encode a His, Arg, or Phe substitution at Leu-215; another allele has Arg Leu-217; final two have substitutions His Using plasmids that allow tetracycline regulated expression, L215H, L217R, L228F were introduced into hemagglutinin antigen-tagged cDNA transfected wild-type cells. In all three cases, low...
One of the early events in progression LPS-mediated acute lung injury mice is disruption pulmonary endothelial barrier resulting edema. However, molecular mechanisms by which becomes compromised remain unresolved. The SRY (sex-determining region on Y chromosome)-related high-mobility group box (Sox) F family member, SOX18, a barrier-protective protein through its ability to increase expression tight junction CLDN5. Thus, purpose this study was determine if downregulation SOX18-CLDN5 axis...
ABSTRACT The opportunistic fungal pathogen Candida albicans thrives within diverse niches in the mammalian host. Among adaptations that underlie this fitness is an ability to utilize a wide array of nutrients, especially sources carbon are disfavored by many other fungi; contributes its survive interactions with phagocytes serve as key barriers against disseminated infections. We have reported C. generates ammonia byproduct amino acid catabolism neutralize acidic phagolysosome and promote...
Genetic factors are involved in acute respiratory distress syndrome (ARDS) susceptibility. Identification of novel candidate genes associated with increased risk and severity will improve our understanding ARDS pathophysiology enhance efforts to develop preventive therapeutic approaches.
Background Biological evidence reported in the literature supports role of CELSR1 as being essential for valvular function murine lymphatics. Yet thus far, there have been no variants inCELSR1associated with lymphatic dysfunction humans. Case Presentation In this report, a rare early inactivating mutation CELSR1is found to be causal non-syndromic, lower extremity lymphedema family across three generations. Near-infrared fluorescence imaging shows that instead propelled within lumen...
Moving from a traditional medical model of treating pathologies to an individualized predictive and preventive personalized medicine promises reduce the healthcare cost on overburdened overwhelmed system. Next-generation sequencing (NGS) has potential accelerate early detection disorders identification pharmacogenetics markers customize treatments. This review explains historical facts that led development NGS along with strengths weakness NGS, special emphasis analytical aspects used...
Significance Replacing traditional methods for genetic testing of inheritable disorders with next-generation sequencing (NGS) will reduce the cost and increase information available patients. NGS become an invaluable resource patient physicians, especially if is stored properly reanalyzed as bioinformatics tools annotations improve. still at early stages development, it full false-positive -negative results requires infrastructure specialized personnel to analyze results. This paper explain...
To study the effects of microtubule-associated proteins (MAPs) on in vivo microtubule assembly, cDNAs containing complete coding sequences a Drosophila 205-kD heat stable MAP, human MAP 4, and tau were stably transfected into CHO cells. Constitutive expression genes was low most cases had no obvious viability cell lines. High levels expression, as judged by Western blots, immunofluorescence, Northern could be induced treating cells with sodium butyrate. MAPs maintained for at least 24-48 h...
Store-operated calcium entry (SOCE) is the mechanism by which extracellular signals elicit prolonged intracellular elevation to drive changes in fundamental cellular processes. Here, we investigated role of SOCE regulation renal water reabsorption, using inbred rat strain SHR-A3 as an animal model with disrupted SOCE. We found that SHR-A3, but not SHR-B2, have a novel truncating mutation gene encoding stromal interaction molecule 1 (STIM1), endoplasmic reticulum (Ca(2+)) sensor triggers...
A Chinese hamster alpha-tubulin cDNA was modified to encode an 11-amino acid carboxyl-terminal extension containing the immunodominant epitope from influenza hemagglutinin antigen (to create HA alpha 1-tubulin) and cloned into a vector for expression in mammalian cells. 12 stable CHO cell lines expressing this 1-tubulin were isolated characterized. incorporated all classes of microtubules, assembled same extent as endogenous tubulin, did not perturb growth cells which it expressed. However,...
A subset of mutant cell lines selected for resistance to the antitumor drug paclitaxel are unable progress normally through mitosis unless is present in growth medium. Without cells form defective spindles, undergo aberrant mitoses, fail complete division and eventually die. Analysis these drug-dependent revealed a low amount microtubule polymer less tubulin production than wild-type cells. Ribonuclease protection experiments indicated that decreased protein was due mRNA. Enhancing assembly...
Abstract Rationale Despite the availability of multi-“omics” strategies, insights into etiology and pathogenesis sarcoidosis have been elusive. This is partly due to lack reliable preclinical models a paucity validated biomarkers. As granulomas are key feature sarcoidosis, we speculate that direct genomic interrogation sarcoid tissues, may lead identification dysregulated gene pathways or biomarker signatures. Objective To facilitate development biomarkers by expression profiling in lung...