A5052857736- Genomics and Rare Diseases
- Cancer Treatment and Pharmacology
- Neonatal Health and Biochemistry
- Methemoglobinemia and Tumor Lysis Syndrome
- Genetics, Bioinformatics, and Biomedical Research
- Pharmacogenetics and Drug Metabolism
- Glycosylation and Glycoproteins Research
- Nutrition, Genetics, and Disease
- Biomedical Text Mining and Ontologies
- Colorectal Cancer Treatments and Studies
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Nuclear Structure and Function
- RNA Research and Splicing
- Advanced Breast Cancer Therapies
- Erythrocyte Function and Pathophysiology
- Fetal and Pediatric Neurological Disorders
- Immunodeficiency and Autoimmune Disorders
- Cancer Genomics and Diagnostics
- Neonatal Respiratory Health Research
- Genomics and Phylogenetic Studies
- Acute Lymphoblastic Leukemia research
- Amino Acid Enzymes and Metabolism
- HER2/EGFR in Cancer Research
Centre Hospitalier Universitaire de Tours
2024
National Institutes of Health
2012-2023
National Center for Biotechnology Information
2012-2023
College of American Pathologists
2023
George Washington University Hospital
2020
Roche (France)
2019
Inova Health System
2016-2019
RELX Group (Netherlands)
2019
Office of the Director
2015-2018
National Human Genome Research Institute
2015-2017
Abstract The National Center for Biotechnology Information (NCBI) provides online information resources biology, including the GenBank® nucleic acid sequence database and PubMed® of citations abstracts published in life science journals. NCBI search retrieval operations most these data from 35 distinct databases. E-utilities serve as programming interface Resources receiving significant updates past year include PubMed, PMC, Bookshelf, SciENcv, NIH Comparative Genomics Resource (CGR), Virus,...
Abstract There are thousands of distinct disease entities and concepts, each which known by different sometimes contradictory names. The lack a unified system for managing these poses major challenge both machines humans that need to harmonize information better predict causes treatments disease. Mondo Disease Ontology is an open, community-driven ontology integrates key medical biomedical terminologies, supporting data integration improve diagnosis, treatment, translational research....
Krüppel-like Factor 2 (KLF2) plays an important role in vessel maturation during embryonic development. In adult mice, KLF2 regulates expression of the tight junction protein occludin, which may allow to maintain vascular integrity. Adult tamoxifen-inducible 4 (KLF4) knockout mice have thickened arterial intima following injury. The KLF4, and possible overlapping functions developing vasculature are not well-studied.Endothelial breaks observed a major vessel, primary head vein (PHV),...
The proteolytic maturation of the nuclear protein lamin A by zinc metalloprotease ZMPSTE24 is critical for human health. precursor, prelamin A, undergoes a multi-step process that includes CAAX processing (farnesylation, proteolysis and carboxylmethylation C-terminal motif), followed ZMPSTE24-mediated cleavage last 15 amino acids, including modified C-terminus. Failure to cleave "tail", due mutations in either or ZMPSTE24, results permanently prenylated form underlies premature aging disease...
<h3>Background</h3> Mutations in <i>PLA2G6</i>, which encodes the calcium-independent phospholipase A2 group VI, cause neurodegeneration and diffuse cortical Lewy body formation by a yet undefined mechanism. We assessed whether altered protein glycosylation due to abnormal Golgi morphology might be factor pathology of this disease. <h3>Methods</h3> Three patients presented with <i>PLA2G6</i>-associated (PLAN); two had infantile neuroaxonal dystrophy (INAD) one adult-onset...
Traditionally, the use of genomic information for personalized medical decisions relies on prior discovery and validation genotype-phenotype associations. This approach constrains care patients presenting with undescribed problems. The National Institutes Health (NIH) Undiagnosed Diseases Program (UDP) hypothesized that defining disease as maladaptation to an ecological niche allows delineation a logical framework diagnose evaluate such patients. Herein, we present philosophical bases,...
Intellectual disability (ID) is a heterogeneous condition arising from variety of environmental and genetic factors. Among these causes are defects in transcriptional regulators. Herein, we report on two brothers nonconsanguineous family with novel compound heterozygous, disease‐segregating mutations (NM_015979.3: [3656A > G];[4006C T], NP_057063.2: [H1219R];[R1336X]) MED23 . This gene encodes subunit the Mediator complex that modulates expression RNA polymerase II‐dependent genes. These...
The uncharacterized gene KIAA1109 has recently been associated with a congenital neurological malformation disorder that variably presents arthrogryposis, craniofacial and/or cardiac abnormalities. We have identified two additional patients compound heterozygous variants presenting the same malformations. mechanism whereby loss of function causes this spectrum disorders was primary focus our studies. hypothesized could be conserved relative to fly tweek and examined endocytosis endosome...
Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disorder caused by mutations in LMNA, which encodes the nuclear scaffold proteins lamin A and C. In HGPS related progerias, processing of prelamin blocked at critical step mediated zinc metalloprotease ZMPSTE24. LMNA-linked progerias can be grouped into two classes: (1) processing-deficient, early onset "typical" (e.g., HGPS), (2) processing-proficient "atypical" progeria syndromes (APS) that are later onset. Here we describe...
Congenital disorders of glycosylation (CDGs) are abnormal protein that affect multiple organ systems. Because most CDGs have been described in only a few individuals, our understanding the associated phenotypes and mechanisms individual survival limited. In process studying two siblings, aged 6 11 years, with MOGS-CDG biallelic MOGS (mannosyl-oligosaccharide glucosidase) mutations (GenBank: NM_006302.2; c.[65C>A; 329G>A] p.[Ala22Glu; Arg110His]; c.[370C>T] p.[Gln124∗]), we noted their was...
The discovery of disease pathogenesis requires systematic agnostic screening multiple homeostatic processes that may become deregulated. We illustrate this principle in the evaluation and diagnosis a 5-year-old boy with Joubert syndrome type 10 (JBTS10). He carried OFD1 mutation p.Gln886Lysfs*2 (NM_003611.2: c.2656del) manifested features syndrome. integrated exome sequencing, MALDI-TOF mass spectrometry analyses plasma cultured dermal fibroblasts glycomes, full clinical proband. Analyses...
Abstract Congenital disorders of autophagy are multisystem with significant neurological involvement. Ectopic p-granules protein 5 (EPG5)-associated Vici syndrome is a prototypical congenital disorder and presents the cardinal features agenesis corpus callosum, cataracts, cardiomyopathy, immunodeficiency, oculocutaneous hypopigmentation. The majority EPG5 variants leading to null alleles only few missense published date. Here we report 3.5-year-old male compound heterozygous [NM_020964.2:...
15511 Background: IROF, the first compound of acylfulvene class to enter clinical trials, has demonstrated antitumor activity in a variety chemoresistant tumors. Currently available chemotherapy offers limited benefit pts with advanced thyroid cancer. A phase I trial an IROF/CAPE combination showed confirmed partial responses 2/4 (Alexandre, ASCO 2003). An international multicenter 2-stage, II was initiated evaluate objective response rate (RECIST) Methods: Eligibility criteria included...