(Q37843989)

24 August 2017

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title

Podosomal proteins as causes of human syndromes: a role in craniofacial development? (English)

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24 August 2017

Pilar Cejudo-Martin

1

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PubMed ID

21328520

24 August 2017

Sara A Courtneidge

series ordinal

2

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24 August 2017

1 April 2011

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24 August 2017

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24 August 2017

49

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24 August 2017

209-221

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24 August 2017

4

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A familial syndrome of short stature associated with facial dysplasia and genital anomalies

24 August 2017

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Epithelial-mesenchymal transitions: the importance of changing cell state in development and disease.

21 January 2018

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Specialized podosome- or invadopodia-like structures (PILS) for focal trabecular meshwork extracellular matrix turnover

21 January 2018

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Faciogenital dysplasia protein Fgd1 regulates invadopodia biogenesis and extracellular matrix degradation and is up-regulated in prostate and breast cancer

21 January 2018

1 reference

First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome

21 January 2018

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FOXC1 transcriptional regulatory activity is impaired by PBX1 in a filamin A-mediated manner

21 January 2018

1 reference

Improvement of migratory defects in a murine model of Wiskott-Aldrich syndrome gene therapy

21 January 2018

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Configuration of human dendritic cell cytoskeleton by Rho GTPases, the WAS protein, and differentiation

21 January 2018

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The novel adaptor protein Tks4 (SH3PXD2B) is required for functional podosome formation

21 January 2018

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Increased filamin binding to beta-integrin cytoplasmic domains inhibits cell migration

21 January 2018

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Cell and molecular biology of invadopodia

21 January 2018

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WASP and WIP regulate podosomes in migrating leukocytes.

21 January 2018

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Inhibition of calpain stabilises podosomes and impairs dendritic cell motility

21 January 2018

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Wiskott-Aldrich syndrome protein and the cytoskeletal dynamics of dendritic cells

21 January 2018

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Transcellular diapedesis is initiated by invasive podosomes

21 January 2018

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Recent advances in craniofacial morphogenesis

21 January 2018

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Proteolytic activity of specialized surface protrusions formed at rosette contact sites of transformed cells

21 January 2018

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Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders

21 January 2018

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The SRC substrate Tks5, podosomes (invadopodia), and cancer cell invasion

21 January 2018

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Actin-binding protein requirement for cortical stability and efficient locomotion

21 January 2018

1 reference

Altered distributions of the cytoskeletal proteins vinculin and alpha-actinin in cultured fibroblasts transformed by Rous sarcoma virus

21 January 2018

1 reference

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

21 January 2018

1 reference

Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome

21 January 2018

1 reference

Regulation of podosome dynamics by WASp phosphorylation: implication in matrix degradation and chemotaxis in macrophages

21 January 2018

1 reference

The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia

21 January 2018

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Dynamics of alpha-actinin in focal adhesions and stress fibers visualized with alpha-actinin-green fluorescent protein

21 January 2018

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Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation

21 January 2018

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Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane

21 January 2018

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Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis

21 January 2018

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The oto-palato-digital syndrome, proposed type II.

21 January 2018

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Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

21 January 2018

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Remodeling of the actin cytoskeleton in the contracting A7r5 smooth muscle cell

21 January 2018

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Assembly and biological role of podosomes and invadopodia

21 January 2018

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Calponin repeats regulate actin filament stability and formation of podosomes in smooth muscle cells

21 January 2018

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Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer

21 January 2018

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The oto-palato-digital (OPD) syndrome in females

21 January 2018

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Frontometaphyseal dysplasia--evidence for X-linked inheritance.

21 January 2018

1 reference

Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report.

21 January 2018

1 reference

Cardiac malformations and midline skeletal defects in mice lacking filamin A.

21 January 2018

1 reference

A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.

21 January 2018

1 reference

A novel gene, fad49, plays a crucial role in the immediate early stage of adipocyte differentiation via involvement in mitotic clonal expansion

21 January 2018

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Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape

21 January 2018

1 reference

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

21 January 2018

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Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

21 January 2018

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Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

21 January 2018

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Prevalence and clinical features of mitral valve prolapse

21 January 2018

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The matrix corroded: podosomes and invadopodia in extracellular matrix degradation

21 January 2018

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The polarization defect of Wiskott-Aldrich syndrome macrophages is linked to dislocalization of the Arp2/3 complex.

21 January 2018

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21 January 2018

Podosomes at a glance

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Wiskott-Aldrich syndrome protein regulates podosomes in primary human macrophages

21 January 2018

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A new method for isolating tyrosine kinase substrates used to identify fish, an SH3 and PX domain-containing protein, and Src substrate

21 January 2018

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Osteopetrosis in Src-deficient mice is due to an autonomous defect of osteoclasts.

21 January 2018

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Further delineation of Frank-ter Haar syndrome.

21 January 2018

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Cell-substratum interaction of cultured avian osteoclasts is mediated by specific adhesion structures

21 January 2018

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Calpain is required for normal osteoclast function and is down-regulated by calcitonin

21 January 2018

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AN UNDIAGNOSED BONE DYSPLASIA

21 January 2018

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Src kinase regulates the activation of a novel FGD-1-related Cdc42 guanine nucleotide exchange factor in the signaling pathway from the endothelin A receptor to JNK.

21 January 2018

1 reference

Role of WASP in cell polarity and podosome dynamics of myeloid cells

21 January 2018

1 reference

Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families.

21 January 2018

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Actin can reorganize into podosomes in aortic endothelial cells, a process controlled by Cdc42 and RhoA.

21 January 2018

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Tyrosine phosphorylation of membrane proteins mediates cellular invasion by transformed cells

21 January 2018

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Activation of G1 progression, JNK mitogen-activated protein kinase, and actin filament assembly by the exchange factor FGD1

21 January 2018

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Three-dimensional structure of actin filaments and of an actin gel made with actin-binding protein.

21 January 2018

1 reference

Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification

21 January 2018

1 reference

Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).

21 January 2018

1 reference

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

21 January 2018

1 reference

A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome)

21 January 2018

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Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor

21 January 2018

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The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13).

21 January 2018

1 reference

21 January 2018

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MicroRNA control of podosome formation in vascular smooth muscle cells in vivo and in vitro

21 January 2018

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Filamin A: phenotypic diversity

21 January 2018

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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

21 January 2018

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Invadosomes: intriguing structures with promise.

21 January 2018

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Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.

21 January 2018

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Filamin associates with Smads and regulates transforming growth factor-beta signaling

21 January 2018

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The adaptor protein Tks5/Fish is required for podosome formation and function, and for the protease-driven invasion of cancer cells

21 January 2018

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Alpha-actinin structure and regulation

21 January 2018

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Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice

21 January 2018

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Podosomes as smart regulators of cellular adhesion.

21 January 2018

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Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome

21 January 2018

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Recent advances in our understanding of Wiskott-Aldrich syndrome.

21 January 2018

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A multiinstitutional survey of the Wiskott-Aldrich syndrome.

21 January 2018

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Podosome-like structures of non-invasive carcinoma cells are replaced in epithelial-mesenchymal transition by actin comet-embedded invadopodia

21 January 2018

1 reference

Rous sarcoma virus-transformed fibroblasts adhere primarily at discrete protrusions of the ventral membrane called podosomes

21 January 2018

1 reference

Melnick-Needles syndrome: indication for an autosomal recessive form

21 January 2018

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Epithelial-mesenchymal transitions in development and disease

21 January 2018

1 reference

Dystroglycan, Tks5 and Src mediated assembly of podosomes in myoblasts

21 January 2018

1 reference

The C-terminal domain of alpha-spectrin is structurally related to calmodulin

21 January 2018

1 reference

Migfilin and Mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation

21 January 2018

1 reference

Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome.

21 January 2018

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Actinin-4 expression in primary and metastasized pancreatic ductal adenocarcinoma

21 January 2018

1 reference

Epithelial-mesenchymal transition: at the crossroads of development and tumor metastasis

21 January 2018

1 reference

Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein

21 January 2018

1 reference

The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor

21 January 2018

1 reference

Filamins in cell signaling, transcription and organ development

21 January 2018

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Filamins in cardiovascular development

21 January 2018

1 reference

Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

21 January 2018

1 reference

Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome

21 January 2018

1 reference

Intrinsic dendritic cell abnormalities in Wiskott-Aldrich syndrome

21 January 2018

1 reference

7 January 2021

WASp deficiency in mice results in failure to form osteoclast sealing zones and defects in bone resorption

1 reference

7 January 2021

alpha-Actinins and the DMD protein contain spectrin-like repeats

1 reference

7 January 2021

A familial syndrome of cranial, facial, oral and limb anomalies

1 reference

7 January 2021

Fronto-metaphyseal dysplasia. Further delineation of the clinical syndrome

1 reference

7 January 2021

Frontometaphyseal dysplasia. A new syndrome

1 reference

7 January 2021

Frontometaphyseal dysplasia with congenital urinary tract malformations

1 reference

7 January 2021

Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family

1 reference

7 January 2021

Focal and segmental glomerulosclerosis in mice with podocyte-specific expression of mutant alpha-actinin-4

1 reference

7 January 2021

Oto-palato-digital syndrome type II in two unrelated boys.

1 reference

7 January 2021

Identifiers

DOI

10.1002/DVG.20732

1 reference

24 August 2017

1 reference

PubMed ID

21328520