A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.
about
A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndromeHomozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defectsGenetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutationMorphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutationAnterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature.Genetic regulation of pituitary gland development in human and mouseDental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 MutationPleiotropic and isoform-specific functions for Pitx2 in superior colliculus and hypothalamic neuronal developmentExtended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.A genome-wide linkage scan for quantitative trait loci influencing the craniofacial complex in humans (Homo sapiens sapiens).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.Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility.Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.Molecular and developmental mechanisms of anterior segment dysgenesis.The role of homeodomain transcription factors in heritable pituitary disease.Axial level-specific regulation of neuronal development: lessons from PITX2.Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant.Nestin-Cre mediated deletion of Pitx2 in the mouse.Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.
P2860
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P2860
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
A novel homeobox mutation in t ...... ocular, and dental phenotypes.
@en
A novel homeobox mutation in t ...... ocular, and dental phenotypes.
@nl
type
label
A novel homeobox mutation in t ...... ocular, and dental phenotypes.
@en
A novel homeobox mutation in t ...... ocular, and dental phenotypes.
@nl
prefLabel
A novel homeobox mutation in t ...... ocular, and dental phenotypes.
@en
A novel homeobox mutation in t ...... ocular, and dental phenotypes.
@nl
P2093
P356
P1476
A novel homeobox mutation in t ...... ocular, and dental phenotypes
@en
P2093
Daniela Vaideanu
Faisal Idrees
Glen Brice
Maria Bitner-Glindzicz
Pamela J Thompson
Paul Ashley
Paul Rutland
Peng T Khaw
Samantha L Free
Sanjay M Sisodiya
P2860
P304
P356
10.1002/AJMG.B.30237
P577
2006-03-01T00:00:00Z