A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD
about
Functional analysis of human mutations in homeodomain transcription factor PITX3Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressureCell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21qGamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataractsInteraction, cooperative promoter modulation, and renal colocalization of GCMa and Pitx2Crystallin gene mutations in Indian families with inherited pediatric cataractMutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.Ptx1 regulates SF-1 activity by an interaction that mimics the role of the ligand-binding domainAutosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridiaA novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomalyThe EPHA2 gene is associated with cataracts linked to chromosome 1pTargeted ablation of NrCAM or ankyrin-B results in disorganized lens fibers leading to cataract formationHomozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humansInvestigation of KIT gene mutations in women with 46,XX spontaneous premature ovarian failureMutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organizationMutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuriaPosterior polar cataract: genetic analysis of a large familyThe aetiology of idiopathic Parkinson's diseasePitx3 controls multiple aspects of lens developmentAnalysis of three Ptx2 splice variants on transcriptional activity and differential expression pattern in the brainLocalization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucomaSequential activation of transcription factors in lens induction.The genome of the Gulf pipefish enables understanding of evolutionary innovationsZebrafish--on the move towards ophthalmological researchIdentification of differentially expressed genes in mouse Pax6 heterozygous lenses.Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.laminin alpha 1 gene is essential for normal lens development in zebrafish.A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene.Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse.Genetic regulation of pituitary gland development in human and mousePitx2 in Embryonic and Adult MyogenesisA splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigreePitx3-deficient aphakia mice display unique behavioral responses to psychostimulant and antipsychotic drugs.Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataractExome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.PITX2-dependent gene regulation in atrial fibrillation and rhythm control.A missense mutation in CRYBA4 associated with congenital cataract and microcornea.
P2860
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P2860
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունիսին 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
A novel homeobox gene PITX3 is ...... al-dominant cataracts and ASMD
@ast
A novel homeobox gene PITX3 is ...... al-dominant cataracts and ASMD
@en
A novel homeobox gene PITX3 is ...... al-dominant cataracts and ASMD
@en-gb
A novel homeobox gene PITX3 is ...... al-dominant cataracts and ASMD
@nl
type
label
A novel homeobox gene PITX3 is ...... al-dominant cataracts and ASMD
@ast
A novel homeobox gene PITX3 is ...... al-dominant cataracts and ASMD
@en
A novel homeobox gene PITX3 is ...... al-dominant cataracts and ASMD
@en-gb
A novel homeobox gene PITX3 is ...... al-dominant cataracts and ASMD
@nl
prefLabel
A novel homeobox gene PITX3 is ...... al-dominant cataracts and ASMD
@ast
A novel homeobox gene PITX3 is ...... al-dominant cataracts and ASMD
@en
A novel homeobox gene PITX3 is ...... al-dominant cataracts and ASMD
@en-gb
A novel homeobox gene PITX3 is ...... al-dominant cataracts and ASMD
@nl
P2093
P2860
P3181
P356
P1433
P1476
A novel homeobox gene PITX3 is ...... al-dominant cataracts and ASMD
@en
P2093
Ferrell RE
Funkhauser C
Mintz-Hittner HA
P2860
P2888
P304
P3181
P356
10.1038/527
P407
P577
1998-06-01T00:00:00Z
P6179
1027048487