A structure-function study of MID1 mutations associated with a mild Opitz phenotype. (Q30352364)

20 June 2017

title

A structure-function study of MID1 mutations associated with a mild Opitz phenotype. (English)

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20 June 2017

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Laila Mnayer

1

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20 June 2017

Sawsan Khuri

2

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20 June 2017

Hassan Al-Ali Merheby

3

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20 June 2017

Germana Meroni

4

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20 June 2017

Louis J Elsas

5

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20 June 2017

language of work or name

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1 March 2006

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Molecular Genetics and Metabolism

20 June 2017

published in

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20 June 2017

volume

87

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issue

3

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20 June 2017

page(s)

198-203

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Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

20 June 2017

cites work

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Duplications on human chromosome 22 reveal a novel Ret Finger Protein-like gene family with sense and endogenous antisense transcripts

7 January 2021

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Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing

7 January 2021

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The Opitz syndrome gene product, MID1, associates with microtubules

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.014

MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

7 January 2021

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Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle

7 January 2021

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Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain

7 January 2021

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New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome

7 January 2021

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X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum

7 January 2021

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Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.

7 January 2021

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Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

7 January 2021

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Structure and functional significance of mechanically unfolded fibronectin type III1 intermediates

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Phylogeny, function, and evolution of the cupins, a structurally conserved, functionally diverse superfamily of proteins.

7 January 2021

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Sequence conservation in Ig-like domains: the role of highly conserved proline residues in the fibronectin type III superfamily

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7 January 2021

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MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders

7 January 2021

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Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome.

7 January 2021

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The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome

7 January 2021

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7 January 2021

Identifiers

DOI

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20 June 2017

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