about
PAX6 gene variations associated with aniridia in south India3' deletions cause aniridia by preventing PAX6 gene expressionIdentification of a dominant negative homeodomain mutation in Rieger syndromeActivation of the human PAX6 gene through the exon 1 enhancer by transcription factors SEF and Sp1Variants in TRIM44 Cause Aniridia by Impairing PAX6 ExpressionHuman HOX gene mutationsPhosphorylation and transactivation of Pax6 by homeodomain-interacting protein kinase 2Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia.Mouse models of congenital cataract.Effects of aberrant Pax6 gene dosage on mouse corneal pathophysiology and corneal epithelial homeostasisMissense mutations of human homeoboxes: A review.Differential occurrence of mutations causative of eye diseases in the Chinese population.Abnormal migration and distribution of neural crest cells in Pax6 heterozygous mutant eye, a model for human eye diseases.The complexities of ocular genetics.Developmental genetics in ophthalmology.PAX6 and congenital eye malformations.Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.Proanthocyanidins Prevent High Glucose-Induced Eye Malformation by Restoring Pax6 Expression in Chick Embryo.A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.Transcriptional and epigenetic mechanisms of early cortical development: An examination of how Pax6 coordinates cortical development.Assessment of PAX6 alleles in 66 families with aniridia.Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.Optical coherence tomography studies provides new insights into diagnosis and prognosis of infantile nystagmus: a review.A new set of primers for mutation analysis of the human PAX6 gene.Translational issues for human corneal endothelial tissue engineering.Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene.Mutant PAX6 downregulates prohormone convertase 2 expression in mouse islets.'Congenital' nystagmus may hide various ophthalmic diagnoses.The cell adhesion gene PVRL3 is associated with congenital ocular defects.Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants.PAX6 methylation and ectopic expression in human tumor cells.PAX6, paired domain influences sequence recognition by the homeodomain.PAX6 gene mutations and genotype-phenotype correlations in sporadic cases of aniridia from India.Mutation analysis of PAX6 in a Chinese family and a patient with a presumed sporadic case of congenital aniridia.Mutation in the PAX6 gene in twenty patients with aniridia.Evidence that POU factor Brn-3B regulates expression of Pax-6 in neuroretina cells.Idiopathic, isolated fovea plana with bilateral off-centre multifocal ERGs.Association analysis of a PAX-6 gene promoter-associated polymorphic repeat with alcohol dependence.Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.
P2860
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P2860
description
1998 nî lūn-bûn
@nan
1998 թուականին հրատարակուած գիտական յօդուած
@hyw
1998 թվականին հրատարակված գիտական հոդված
@hy
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
name
PAX6 mutations reviewed
@ast
PAX6 mutations reviewed
@en
type
label
PAX6 mutations reviewed
@ast
PAX6 mutations reviewed
@en
prefLabel
PAX6 mutations reviewed
@ast
PAX6 mutations reviewed
@en
P1433
P1476
PAX6 mutations reviewed
@en
P2093
Jane Prosser
P304
P356
10.1002/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.0.CO;2-M
P577
1998-01-01T00:00:00Z