New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome
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DEAR1 is a dominant regulator of acinar morphogenesis and an independent predictor of local recurrence-free survival in early-onset breast cancerMID1 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 disordersActive transport of the ubiquitin ligase MID1 along the microtubules is regulated by protein phosphatase 2APhosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4.Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubulesX-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrumPML protein isoforms and the RBCC/TRIM motifNMR studies of the C-terminus of alpha4 reveal possible mechanism of its interaction with MID1 and protein phosphatase 2ADevelopmental expression of alpha4 protein phosphatase regulatory subunit in tissues affected by Opitz syndrome.XLOS-observed mutations of MID1 Bbox1 domain cause domain unfolding.Increased de novo copy number variants in the offspring of older malesThe Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review.Enterophilins, a new family of leucine zipper proteins bearing a b30.2 domain and associated with enterocyte differentiation.Subclassification of the RBCC/TRIM superfamily reveals a novel motif necessary for microtubule binding.Molecular and comparative genetics of mental retardation.MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac.Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population.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.X-linked microtubule-associated protein, Mid1, regulates axon development.Structure and function of the SPRY/B30.2 domain proteins involved in innate immunity.Ubiquitin in regulation of spindle apparatus and its positioning: implications in development and disease.Different subcellular localisations of TRIM22 suggest species-specific function.Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain.
P2860
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P2860
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome
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2000 nî lūn-bûn
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2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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New mutations in MID1 provide ...... use of X-linked Opitz syndrome
@ast
New mutations in MID1 provide ...... use of X-linked Opitz syndrome
@en
New mutations in MID1 provide ...... use of X-linked Opitz syndrome
@nl
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label
New mutations in MID1 provide ...... use of X-linked Opitz syndrome
@ast
New mutations in MID1 provide ...... use of X-linked Opitz syndrome
@en
New mutations in MID1 provide ...... use of X-linked Opitz syndrome
@nl
prefLabel
New mutations in MID1 provide ...... use of X-linked Opitz syndrome
@ast
New mutations in MID1 provide ...... use of X-linked Opitz syndrome
@en
New mutations in MID1 provide ...... use of X-linked Opitz syndrome
@nl
P2093
P356
P1476
New mutations in MID1 provide ...... use of X-linked Opitz syndrome
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P2093
G K Suthers
P304
P356
10.1093/HMG/9.17.2553
P407
P577
2000-10-12T00:00:00Z