An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.
about
Screening significantly hypermethylated genes in fetal tissues compared with maternal blood using a methylated-CpG island recovery assay-based microarray.The Pitx2c N-terminal domain is a critical interaction domain required for asymmetric morphogenesis.Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2A zebrafish model of axenfeld-rieger syndrome reveals that pitx2 regulation by retinoic acid is essential for ocular and craniofacial development.PITX2 AND PITX1 regulate thyrotroph function and response to hypothyroidism.PITX2 and FOXC1 spectrum of mutations in ocular syndromesMolecular consequences of a frameshifted DLX3 mutant leading to Tricho-Dento-Osseous syndrome.Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.PITX2 deficiency and associated human disease: insights from the zebrafish model.Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.
P2860
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P2860
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.
description
2006 nî lūn-bûn
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2006 թուականի Մարտին հրատարակուած գիտական յօդուած
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2006 թվականի մարտին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年论文
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name
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.
@ast
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.
@en
type
label
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.
@ast
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.
@en
prefLabel
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.
@ast
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.
@en
P2093
P2860
P356
P1476
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome
@en
P2093
Adisa Kuburas
Elena Semina
Jeffrey C Murray
Rafael Toro
P2860
P304
P356
10.1002/BDRA.20226
P577
2006-03-01T00:00:00Z