about
Functional analysis of human mutations in homeodomain transcription factor PITX3CRYBA4, a novel human cataract gene, is also involved in microphthalmiaA novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataractEarly transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 miceRemoval of Hsf4 leads to cataract development in mice through down-regulation of gamma S-crystallin and Bfsp expression.AlphaA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice.Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.Association of G>A transition in exon-1 of alpha crystallin gene in age-related cataractsLens fiber cell differentiation and denucleation are disrupted through expression of the N-terminal nuclear receptor box of NCOA6 and result in p53-dependent and p53-independent apoptosis.Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardationAn increase in apoptosis and reduction in αB-crystallin expression levels in the lens underlie the cataractogenesis of Morioka cataract (MCT) mice.Cataract-causing defect of a mutant γ-crystallin proceeds through an aggregation pathway which bypasses recognition by the α-crystallin chaperone.Mutation analysis of the ferritin L-chain gene in age-related cataract.Identification of proteins that modify cataract of mouse eye lensHereditary and histologic characteristics of the CF1/b cac mouse cataract model.A knock-in mouse model for the R120G mutation of αB-crystallin recapitulates human hereditary myopathy and cataracts.Ectopic activation of Wnt/β-catenin signaling in lens fiber cells results in cataract formation and aberrant fiber cell differentiation.Toward a better understanding of human eye disease insights from the zebrafish, Danio rerio.Direct non-cell autonomous Pax6 activity regulates eye development in the zebrafishA spontaneous mutation in Srebf2 leads to cataracts and persistent skin wounds in the lens opacity 13 (lop13) mouse.Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.Endogenous retroviral insertion in Cryge in the mouse No3 cataract mutant.Distinct embryonic expression and localization of CBP and p300 histone acetyltransferases at the mouse alphaA-crystallin locus in lens.Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal AnomaliesPax6 is misexpressed in Sox1 null lens fiber cells.Characterization of lens fiber cell triton insoluble fraction reveals ERM (ezrin, radixin, moesin) proteins as major cytoskeletal-associated proteins.Interactions of connexins with other membrane channels and transportersThe orphan G protein-coupled receptor, Gpr161, encodes the vacuolated lens locus and controls neurulation and lens development.Two-photon microscopy: shedding light on the chemistry of vision.A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.Apoptosis gene profiling reveals spatio-temporal regulated expression of the p53/Mdm2 pathway during lens developmentAbundant expression of ponsin, a focal adhesion protein, in lens and downregulation of its expression by impaired cytoskeletal signaling.A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract.Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.Building the developmental oculome: systems biology in vertebrate eye development and disease.Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q.Engrailed homeoproteins in visual system development.Association study of candidate genes for primary cataracts and fine-mapping of a candidate region on dog chromosome 1 in Entlebucher mountain dogs.Differential binding of mutant (R116C) and wildtype alphaA crystallin to actin.Automated, computerized, feature-based phenotype analysis of slit lamp images of the mouse lens.
P2860
Q21093363-57CD696D-A86E-4187-B514-932F37DAA16BQ24302017-AC088EEB-3AA2-4BA0-8EA2-36E32AB05646Q24655185-E6B44D53-E488-48D6-8A77-AEAFF81410F1Q28589395-32468F1C-67B4-4D45-86E5-FEC9EBAC1F8DQ33410189-6E7B0E65-8BE3-445C-812A-8C17D5AACE17Q33484430-97A0DA48-8ADF-4BB2-B0FC-224A6CA2B2B1Q33767162-2639797D-91A0-4718-B19F-D72F865613E3Q33915675-C17BF456-54C4-4FC6-930D-F19A0ABC6F53Q33992575-11AD9865-D07E-4D3A-9DA2-498A54047D3FQ34079601-2B3FCF2B-6922-475A-A308-FCF1A0EA393DQ34104635-CF22E48F-4265-43B5-9FC6-DA0A0AA8A2FAQ34288930-BD449CF7-34D1-4B73-893A-C4104207536AQ34366113-C3935D76-3BB9-4B5F-824C-7C5FA3CA466BQ34477202-5EDD7720-30CC-4ACA-BB9E-7B2447F06DD1Q34539372-023BC660-9D65-4F77-8388-B19295EF6D59Q34699001-CCF43683-1D49-4F1C-AD63-86C62569B1B0Q35036275-0F921E31-F17D-42B3-97DB-95B04141AAFDQ35176354-B7BAA180-D47B-4675-9627-4C1DAE0C8121Q35634123-31D8240B-4753-4BBD-8362-0A78B22848A5Q35654048-8D53DD71-3677-4777-8C64-681B452299CFQ35736288-639BCEBA-2668-44B3-BFA7-A3938B1E8B52Q35793093-31A08EF0-BDFB-4867-A8B5-841E1292C13AQ36116540-34F54948-6511-44FD-9CA5-62D1F278EBC6Q36246337-AE03AF57-5E76-4FFD-ACCA-3D6C79104459Q36464962-0B4051A7-6969-4BEC-B5B1-54DE8EC64340Q36503313-745EEBD0-8994-4652-BB11-D085BFCCEDF9Q36809350-4F841466-B024-4D0E-AB9C-4BCCBC1345DCQ36883085-D6FD31EA-A4AB-469E-911B-086906632AAAQ36901779-7C8B2682-19B0-47AB-9DF8-2FBCEA4CF316Q36950476-C2AB9918-9C73-4128-8EDA-7FA4497E71B3Q37251881-C37D9876-1B2F-41EA-A448-2853FAF6D6FBQ37275818-CF0553C7-65B9-4865-9C54-D46784FF3A54Q37276350-47F1C569-15D2-44FB-B7F2-EB0231435DE7Q37608059-5B134906-7440-4F20-8DEC-0549B9B784B4Q37788016-1C784119-1DFD-4966-9CB1-42A7B89B3A60Q38270869-4D416839-F44A-4EDE-92BA-5D87D1F17401Q38272495-5094FE37-3B01-431E-A7C3-AD8DDD483222Q38525977-D10F2836-A2ED-4155-9A46-108CB6EE3068Q39094168-98573C7C-3A1D-46E3-BCA3-A667D25423C4Q39836670-CDC77AC6-ABA5-48AE-94BD-4A96854C5035
P2860
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Congenital hereditary cataracts.
@ast
Congenital hereditary cataracts.
@en
type
label
Congenital hereditary cataracts.
@ast
Congenital hereditary cataracts.
@en
prefLabel
Congenital hereditary cataracts.
@ast
Congenital hereditary cataracts.
@en
P356
P1476
Congenital hereditary cataracts.
@en
P2093
Jochen Graw
P304
P356
10.1387/IJDB.041854JG
P577
2004-01-01T00:00:00Z