Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants.
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Missense mutation in the alternative splice region of the PAX6 gene in eye anomaliesModulation of PAX6 homeodomain function by the paired domain3' deletions cause aniridia by preventing PAX6 gene expressionIdentification of a dominant negative homeodomain mutation in Rieger syndromeThe MH1 domain of Smad3 interacts with Pax6 and represses autoregulation of the Pax6 P1 promoterPax6 controls the expression of critical genes involved in pancreatic {alpha} cell differentiation and functionNeurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.PAX6 mutations: genotype-phenotype correlationsThe Rho GTPase effector protein, mDia, inhibits the DNA binding ability of the transcription factor Pax6 and changes the pattern of neurite extension in cerebellar granule cells through its binding to Pax6Phosphorylation and transactivation of Pax6 by homeodomain-interacting protein kinase 2Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformationsFunctional domains of the cone-rod homeobox (CRX) transcription factor.Elevated levels of synthesis of over 20 proteins results after mutation of the Rhizobium leguminosarum exopolysaccharide synthesis gene pssA.Differential occurrence of mutations causative of eye diseases in the Chinese population.Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.Interaction between Pax6 and its novel mutant in Bufo raddei StrauchAnterior eye development and ocular mesenchyme: new insights from mouse models and human diseasesMolecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.Pax genes in embryogenesis and oncogenesis.A novel PAX6 deletion in a Chinese family with congenital aniridiaRegulation of gene expression by Pax6 in ocular cells: a case of tissue-preferred expression of crystallins in lens.Functional properties of natural human PAX6 and PAX6(5a) mutantsGenotype-phenotype correlation of PAX6 gene mutations in aniridiaMolecular consequences of a frameshifted DLX3 mutant leading to Tricho-Dento-Osseous syndrome.Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.Differential requirements for the Pax6(5a) genes eyegone and twin of eyegone during eye development in Drosophila.Novel dominant-negative mutation within the six domain of the conserved eye specification gene sine oculis inhibits eye development in Drosophila.A comparative cDNA microarray analysis reveals a spectrum of genes regulated by Pax6 in mouse lens.Regulation of cerebral cortical neurogenesis by the Pax6 transcription factor.Mutant PAX6 downregulates prohormone convertase 2 expression in mouse islets.Pax6 and Pdx1 are required for production of glucose-dependent insulinotropic polypeptide in proglucagon-expressing L cells.Functional interactions between alternatively spliced forms of Pax6 in crystallin gene regulation and in haploinsufficiency.PAX6, paired domain influences sequence recognition by the homeodomain.11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol.Novel PAX6 mutation reported in an aniridia patient.PH4 of Petunia is an R2R3 MYB protein that activates vacuolar acidification through interactions with basic-helix-loop-helix transcription factors of the anthocyanin pathway.Novel variants in PAX6 gene caused congenital aniridia in two Chinese families.Phosphorylation of the Transactivation Domain of Pax6 by Extracellular Signal-regulated Kinase and p38 Mitogen-activated Protein Kinase
P2860
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P2860
Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
1998年论文
@zh
1998年论文
@zh-cn
name
Truncation mutations in the tr ...... in dominant-negative mutants.
@en
type
label
Truncation mutations in the tr ...... in dominant-negative mutants.
@en
prefLabel
Truncation mutations in the tr ...... in dominant-negative mutants.
@en
P2093
P2860
P356
P1476
Truncation mutations in the tr ...... in dominant-negative mutants.
@en
P2093
P2860
P304
21531-21541
P356
10.1074/JBC.273.34.21531
P407
P577
1998-08-01T00:00:00Z