Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2
about
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypespitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafishCommon and rare genetic risk factors for glaucoma.PITX2 is involved in stress response in cultured human trabecular meshwork cells through regulation of SLC13A3.Long-range regulatory interactions at the 4q25 atrial fibrillation risk locus involve PITX2c and ENPEP.Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeAnalysis of FOXD3 sequence variation in human ocular disease.Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataractPITX2 and FOXC1 spectrum of mutations in ocular syndromesIdentification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype.Genetics of anterior segment dysgenesis disorders.Eukaryotic enhancers: common features, regulation, and participation in diseases.Exome sequencing and whole genome sequencing for the detection of copy number variation.Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.Kinetochore KMN network gene CASC5 mutated in primary microcephaly.Chromatin Architecture of the Pitx2 Locus Requires CTCF- and Pitx2-Dependent Asymmetry that Mirrors Embryonic Gut Laterality.Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.Relationship between neural crest cell specification and rare ocular diseases.PITX2 deficiency and associated human disease: insights from the zebrafish model.
P2860
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P2860
Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2
description
2011 nî lūn-bûn
@nan
2011 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մարտին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Potential novel mechanism for ...... g regulatory elements of PITX2
@ast
Potential novel mechanism for ...... g regulatory elements of PITX2
@en
type
label
Potential novel mechanism for ...... g regulatory elements of PITX2
@ast
Potential novel mechanism for ...... g regulatory elements of PITX2
@en
prefLabel
Potential novel mechanism for ...... g regulatory elements of PITX2
@ast
Potential novel mechanism for ...... g regulatory elements of PITX2
@en
P2093
P2860
P356
P1476
Potential novel mechanism for ...... g regulatory elements of PITX2
@en
P2093
Aki Mustonen
Bethany A Volkmann
Brian A Link
Dmitry V Bosenko
Kala F Schilter
Linda M Reis
Natalya S Zinkevich
Ulrich Broeckel
P2860
P304
P356
10.1167/IOVS.10-6060
P407
P577
2011-03-18T00:00:00Z