(Q28142849)

English

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

scientific article (publication date: 4 August 2000)

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

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Andrea Musacchio

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A Musacchio

7

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Vincenzo Sorrentino

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V Sorrentino

8

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author name string

A Orrico

1

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L Galli

2

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M Falciani

3

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M Bracci

4

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M L Cavaliere

5

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M M Rinaldi

6

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language of work or name

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publication date

4 August 2000

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478

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216-20

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3

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

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21 January 2018

Aarskog syndrome: the changing phenotype with age.

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21 January 2018

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

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21 January 2018

Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene.

1 reference

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21 January 2018

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

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Aarskog syndrome

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Aarskog syndrome: report of a family with review and discussion of nosology

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The PH domain: a common piece in the structural patchwork of signalling proteins

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The PH superfold: a structural scaffold for multiple functions

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Phosphoinositide binding domains: embracing 3-phosphate

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Signalling through the lipid products of phosphoinositide-3-OH kinase

1 reference

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Structure of the PH domain from Bruton's tyrosine kinase in complex with inositol 1,3,4,5-tetrakisphosphate

1 reference

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A comparative analysis of the phosphoinositide binding specificity of pleckstrin homology domains

1 reference

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Direct regulation of the Akt proto-oncogene product by phosphatidylinositol-3,4-bisphosphate

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Structure of the high affinity complex of inositol trisphosphate with a phospholipase C pleckstrin homology domain

1 reference

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Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia

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Identification and analysis of PH domain-containing targets of phosphatidylinositol 3-kinase using a novel in vivo assay in yeast

1 reference

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Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

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Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene

1 reference

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X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene

1 reference

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Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus

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The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization

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Structure of EVH1, a novel proline-rich ligand-binding module involved in cytoskeletal dynamics and neural function

1 reference

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Structure of the enabled/VASP homology 1 domain-peptide complex: a key component in the spatial control of actin assembly

1 reference

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Phospholipid-binding protein domains

1 reference

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Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323

1 reference

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7 January 2021

Mutation of the pleckstrin homology domain of Bruton's tyrosine kinase in immunodeficiency impaired inositol 1,3,4,5-tetrakisphosphate binding capacity

1 reference

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7 January 2021

Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia

1 reference

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N-WASP, a novel actin-depolymerizing protein, regulates the cortical cytoskeletal rearrangement in a PIP2-dependent manner downstream of tyrosine kinases

1 reference

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PH domains in WASP - a bug in the system? Wiskott-Aldrich syndrome protein

1 reference

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Identifiers

10.1016/S0014-5793(00)01857-3

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Consolidated OpenCitations Corpus – April 2017

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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