Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome
about
The 'ins' and 'outs' of podosomes and invadopodia: characteristics, formation and functionMetalloproteinase MT1-MMP islets act as memory devices for podosome reemergenceA Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus)A Src-Tks5 pathway is required for neural crest cell migration during embryonic developmentSpatiotemporal regulation of Src and its substrates at invadosomesGenetic disruption of the sh3pxd2a gene reveals an essential role in mouse development and the existence of a novel isoform of tks5The scaffold protein Tks4 is required for the differentiation of mesenchymal stromal cells (MSCs) into adipogenic and osteogenic lineagesMetabolic regulation of invadopodia and invasion by acetyl-CoA carboxylase 1 and de novo lipogenesisExpression, purification and preliminary crystallographic studies of the C-terminal SH3 domain of human Tks4.Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.EGF regulates tyrosine phosphorylation and membrane-translocation of the scaffold protein Tks5Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucomaThe homolog of the five SH3-domain protein (HOFI/SH3PXD2B) regulates lamellipodia formation and cell spreadingIdentification of CrkL-SH3 binding proteins from embryonic murine brain: implications for Reelin signaling during brain development.Sh3pxd2b mice are a model for craniofacial dysmorphology and otitis media.Large-effect pleiotropic or closely linked QTL segregate within and across ten US cattle breeds.Cell migration and invasion in human disease: the Tks adaptor proteinsFrank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2bEffective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genomeRedox signaling at invasive microdomains in cancer cells.Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersMapping of Craniofacial Traits in Outbred Mice Identifies Major Developmental Genes Involved in Shape DeterminationConditional deletion of AP-2β in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma.The role of Tks adaptor proteins in invadopodia formation, growth and metastasis of melanoma.Podosomal proteins as causes of human syndromes: a role in craniofacial development?Frank-Ter Haar syndrome in a newborn.Invadosomes are coming: new insights into function and disease relevance.Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes.Frank-ter Haar syndrome protein Tks4 regulates epidermal growth factor-dependent cell migrationTks adaptor proteins at a glance.WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.The In Vivo Effects of the CB1-Positive Allosteric Modulator GAT229 on Intraocular Pressure in Ocular Normotensive and Hypertensive Mice.
P2860
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P2860
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome
description
2010 nî lūn-bûn
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2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
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2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Disruption of the podosome ada ...... ies of Frank-Ter Haar Syndrome
@ast
Disruption of the podosome ada ...... ies of Frank-Ter Haar Syndrome
@en
Disruption of the podosome ada ...... ies of Frank-Ter Haar Syndrome
@en-gb
Disruption of the podosome ada ...... ies of Frank-Ter Haar Syndrome
@nl
type
label
Disruption of the podosome ada ...... ies of Frank-Ter Haar Syndrome
@ast
Disruption of the podosome ada ...... ies of Frank-Ter Haar Syndrome
@en
Disruption of the podosome ada ...... ies of Frank-Ter Haar Syndrome
@en-gb
Disruption of the podosome ada ...... ies of Frank-Ter Haar Syndrome
@nl
prefLabel
Disruption of the podosome ada ...... ies of Frank-Ter Haar Syndrome
@ast
Disruption of the podosome ada ...... ies of Frank-Ter Haar Syndrome
@en
Disruption of the podosome ada ...... ies of Frank-Ter Haar Syndrome
@en-gb
Disruption of the podosome ada ...... ies of Frank-Ter Haar Syndrome
@nl
P2093
P2860
P50
P921
P3181
P1476
Disruption of the podosome ada ...... ies of Frank-Ter Haar Syndrome
@en
P2093
Andre Megarbane
Arjan de Brouwer
Astrid Oudakker
Beate Albrecht
Bert van der Zwaag
Ellen van Beusekom
James D Lindsey
José Luis Millán
M Cecilia Scimia
P2860
P304
P3181
P356
10.1016/J.AJHG.2010.01.009
P407
P577
2010-02-12T00:00:00Z