Results
author = "Tybulewicz, Victor L.J."
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
Down syndrome—recent progress and future prospects
Author(s) :
Wiseman, Frances K.
,
Alford, Kate A.
,
Tybulewicz, Victor L.J.
,
Fisher, Elizabeth M.C.
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
Author(s) :
Fisher, Elizabeth M. C.
,
Lana-Elola, Eva
,
Watson, Sheona D.
,
Vassiliou, George
,
Tybulewicz, Victor L. J.
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
Down syndrome: searching for the genetic culprits
Author(s) :
Lana-Elola, Eva
,
Watson-Scales, Sheona D.
,
Fisher, Elizabeth M. C.
,
Tybulewicz, Victor L. J.
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
Author(s) :
Sheppard, Olivia
,
Wiseman, Frances K.
,
Ruparelia, Aarti
,
Tybulewicz, Victor L. J.
,
Fisher, Elizabeth M. C.
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
Author(s) :
Faroudi, Mustapha
,
Hons, Miroslav
,
Zachacz, Agnieszka
,
Dumont, Celine
,
Lyck, Ruth
,
Stein, Jens V.
,
Tybulewicz, Victor L. J.
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
Syk-Mediated Translocation of PI3Kδ to the Leading Edge Controls Lamellipodium Formation and Migration of Leukocytes
Author(s) :
Schymeinsky, Jürgen
,
Then, Cornelia
,
Sindrilaru, Anca
,
Gerstl, Ronald
,
Jakus, Zoltán
,
Tybulewicz, Victor L. J.
Description :
The non-receptor tyrosine kinase Syk is mainly expressed in the hematopoietic system and plays an essential role in β2 integrin-mediated leukocyte activation. To elucidate the signaling pathway downstream of Syk during β2 integrin (CD11/CD18)-mediated migration and extravasation of polymorphonuclear...
Repository :
Europe PubMed Central
Language(s) :
English
Preservation of long-term memory and synaptic plasticity despite short-term impairments in the Tc1 mouse model of Down syndrome
Author(s) :
Morice, Elise
,
Andreae, Laura C.
,
Cooke, Sam F.
,
Vanes, Lesley
,
Fisher, Elizabeth M.C.
,
Tybulewicz, Victor L.J.
Description :
Down syndrome (DS) is a genetic disorder arising from the presence of a third copy of the human chromosome 21 (Hsa21). Recently, O’Doherty and colleagues in an earlier study generated a new genetic mouse model of DS (Tc1) that carries an almost complete Hsa21. Since DS is the most common genetic cau...
Repository :
Europe PubMed Central
Language(s) :
English
Syk, c-Src, the αvβ3 integrin, and ITAM immunoreceptors, in concert, regulate osteoclastic bone resorption
Author(s) :
Zou, Wei
,
Kitaura, Hideki
,
Reeve, Jennifer
,
Long, Fanxin
,
Tybulewicz, Victor L.J.
,
Shattil, Sanford J.
,
Ginsberg, Mark H.
Description :
In this study, we establish that the tyrosine kinase Syk is essential for osteoclast function in vitro and in vivo. Syk−/− osteoclasts fail to organize their cytoskeleton, and, as such, their bone-resorptive capacity is arrested. This defect results in increased skeletal mass in Syk−/− embryos and d...
Repository :
Europe PubMed Central
Language(s) :
English
β1 integrin activates Rac1 in Schwann cells to generate radial lamellae during axonal sorting and myelination
Author(s) :
Nodari, Alessandro
,
Zambroni, Desirée
,
Quattrini, Angelo
,
Court, Felipe A.
,
D'Urso, Alessandra
,
Recchia, Alessandra
Description :
Myelin is a multispiraled extension of glial membrane that surrounds axons. How glia extend a surface many-fold larger than their body is poorly understood. Schwann cells are peripheral glia and insert radial cytoplasmic extensions into bundles of axons to sort, ensheath, and myelinate them. Laminin...
Repository :
Europe PubMed Central
Language(s) :
English