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author = "Tybulewicz, Victor"

Found 41 documents, displaying page 1 of 5

Crucial structural role for the PH and C1 domains of the Vav1 exchange factor

Description : The Vav family of proteins are guanine nucleotide exchange factors (GEFs) for the Rho family of GTPases, which regulate various cellular functions, including T-cell activation. They contain a catalytic Dbl homology (DH) domain that is invariably followed by a pleckstrin homology (PH) domain, which i...
Repository : Europe PubMed Central
Language(s) : English

Generation of a panel of antibodies against proteins encoded on human chromosome 21

Description :

Abstract

Background

Down syndrome (DS) is caused by trisomy of all or part of chromosome 21. To further understanding of DS we are working with a mouse model, the Tc1 mouse, which carries most of human chromosome 21 in addition to the normal mouse chromosome complement. This mouse i...

Repository : DOAJ-Articles
Language(s) : English

Down syndrome—recent progress and future prospects

Description : Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of deleterious phenotypes, including learning disability, heart defects, early-onset Alzheimer's disease and childhood leukaemia. Individuals with DS are affected by these phenotypes to a variable extent...
Repository : Europe PubMed Central
Language(s) : English

New approaches for modelling sporadic genetic disease in the mouse

Description : Sporadic diseases, which occur as single, scattered cases, are among the commonest causes of human morbidity and death. They result in a variety of diseases, including many cancers, premature aging, neurodegeneration and skeletal defects. They are often pathogenetically complex, involving a mosaic d...
Repository : Europe PubMed Central
Language(s) : English

Vav1 Regulates Phospholipase Cγ Activation and Calcium Responses in Mast Cells

Description : The hematopoietic cell-specific protein Vav1 is a substrate of tyrosine kinases activated following engagement of many receptors, including FcɛRI. Vav1-deficient mice contain normal numbers of mast cells but respond more weakly than their normal counterparts to a passive systemic anaphylaxis challen...
Repository : Europe PubMed Central
Language(s) : English

Down syndrome: searching for the genetic culprits

Description : Down syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21) and results in a large number of phenotypes, including learning difficulties, cardiac defects, distinguishing facial features and leukaemia. These are likely to result from an increased dosage of one or more of the ∼310 genes pre...
Repository : Europe PubMed Central
Language(s) : English

Mouse Models of Aneuploidy

Description : Abnormalities of chromosome copy number are called aneuploidies and make up a large health load on the human population. Many aneuploidies are lethal because the resulting abnormal gene dosage is highly deleterious. Nevertheless, some whole chromosome aneuploidies can lead to live births. Alteration...
Repository : Europe PubMed Central
Language(s) : English

Critical roles for Rac GTPases in T-cell migration to and within lymph nodes

Description : Naive T cells continuously recirculate between secondary lymphoid tissue via the blood and lymphatic systems, a process that maximizes the chances of an encounter between a T cell and its cognate antigen. This recirculation depends on signals from chemokine receptors, integrins, and the sphingosine-...
Repository : Europe PubMed Central
Language(s) : English

Rac1-Dependent Cell Cycle Exit of MGE Precursors and GABAergic Interneuron Migration to the Cortex

Description : Cortical γ-aminobutyric acid (GABA)ergic interneurons are characterized by extraordinary neurochemical and functional diversity. Although recent studies have uncovered some of the molecular components underlying interneuron development, including the cellular and molecular mechanisms guiding their m...
Repository : Europe PubMed Central
Language(s) : English

Found 41 documents, displaying page 1 of 5