Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.

Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.

Item
http://www.wikidata.org/entity/Q51857876
Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment diseaseGenetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeWhole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.Smad4-dependent suppressor pituitary homeobox 2 promotes PPP2R2A-mediated inhibition of Akt pathway in pancreatic cancer.Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences.Digenic inheritance in medical geneticsWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome.Dominance and interloci interactions in transcriptional activation cascades: models explaining compensatory mutations and inheritance patterns.Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger SyndromeThe 6p25 deletion syndrome: An update on a rare neurocristopathy.The rare Axenfeld-Rieger syndrome with systemic anomalies: A case report and brief review of literatureA Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations.Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases.Unilateral persistent fetal vasculature coexisting with anterior segment dysgenesis.PITX2 deficiency and associated human disease: insights from the zebrafish model.
P2860

Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.

Item
http://www.wikidata.org/entity/Q51857876
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
Digenic inheritance of mutatio ...... nfeld-Rieger disease severity.
@en
Digenic inheritance of mutatio ...... nfeld-Rieger disease severity.
@nl
type
label
Digenic inheritance of mutatio ...... nfeld-Rieger disease severity.
@en
Digenic inheritance of mutatio ...... nfeld-Rieger disease severity.
@nl
prefLabel
Digenic inheritance of mutatio ...... nfeld-Rieger disease severity.
@en
Digenic inheritance of mutatio ...... nfeld-Rieger disease severity.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Digenic inheritance of mutatio ...... enfeld-Rieger disease severity
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698