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

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

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

http://www.wikidata.org/entity/Q28183393

about

Cloning and characterization of a novel human SPRYD4 gene encoding a putative SPRY domain-containing protein Active transport of the ubiquitin ligase MID1 along the microtubules is regulated by protein phosphatase 2A Structural and functional insights into the B30.2/SPRY domain.VACTERL/VATER Association Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules Lower urinary tract development and disease NMR studies of the C-terminus of alpha4 reveal possible mechanism of its interaction with MID1 and protein phosphatase 2A The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review.Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients.MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac.Midline 1 controls polarization and migration of murine cytotoxic T cells.Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.Embryology of oesophageal atresia.The MID1 E3 ligase catalyzes the polyubiquitination of Alpha4 (α4), a regulatory subunit of protein phosphatase 2A (PP2A): novel insights into MID1-mediated regulation of PP2A.aura (mid1ip1l) regulates the cytoskeleton at the zebrafish egg-to-embryo transition.X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".A surgical approach to the craniofacial defects of Opitz G/BBB syndrome Update on 13 Syndromes Affecting Craniofacial and Dental Structures.Dental treatment of a patient with Opitz G/BBB syndrome.Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.Structural and functional observations of the P151L MID1 mutation reveal alpha4 plays a significant role in X-linked Opitz Syndrome.Midline 1 directs lytic granule exocytosis and cytotoxicity of mouse killer T cells.A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain.MID2 can substitute for MID1 and control exocytosis of lytic granules in cytotoxic T cells

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

http://www.wikidata.org/entity/Q28183393

description

2003 nî lūn-bûn

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2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի հուլիսին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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name

X-linked Opitz syndrome: novel ...... ition of the clinical spectrum

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X-linked Opitz syndrome: novel ...... ition of the clinical spectrum

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X-linked Opitz syndrome: novel ...... ition of the clinical spectrum

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X-linked Opitz syndrome: novel ...... ition of the clinical spectrum

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X-linked Opitz syndrome: novel ...... ition of the clinical spectrum

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X-linked Opitz syndrome: novel ...... ition of the clinical spectrum

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X-linked Opitz syndrome: novel ...... ition of the clinical spectrum

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X-linked Opitz syndrome: novel ...... ition of the clinical spectrum

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P1433

American Journal of Medical Genetics Part A

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X-linked Opitz syndrome: novel ...... ition of the clinical spectrum

@en

P2093

Amit Rastogi

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Caterina Berti

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David Chitayat

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Francesca De Falco

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German Rodríguez Criado

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Germana Meroni

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Grazia Andolfi

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Harindar Jawanda

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Jan Liebelt

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Nick Dennis

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P2860

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

The Opitz syndrome gene product, MID1, associates with microtubules

The tripartite motif family identifies cell compartments.

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

Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4.

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

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

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

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

Opitz (BBB/G) syndrome: oral manifestations.

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222-8

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scholarly article

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10.1002/AJMG.A.10265

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P433

2

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120A

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Andrea Ballabio

Brunella Franco

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2003-07-15T00:00:00Z

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12833403

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