Mutations in the founder of the MIP gene family underlie cataract development in the mouse.
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Lipid-protein interactions in double-layered two-dimensional AQP0 crystals.A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1qThe human Aquaporin-5 gene. Molecular characterization and chromosomal localizationMutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.Overlapping Sp1 and AP2 binding sites in a promoter element of the lens-specific MIP geneTargeted ablation of NrCAM or ankyrin-B results in disorganized lens fibers leading to cataract formationA new locus for dominant "zonular pulverulent" cataract, on chromosome 13Water homeostasis: evolutionary medicineFunctional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract.Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesionThe human AQP4 gene: definition of the locus encoding two water channel polypeptides in brainAquaporin-4 is expressed in basolateral membranes of proximal tubule S3 segments in mouse kidneyFunctional expression of aquaporins in embryonic, postnatal, and adult mouse lensesEarly transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 miceMALDI imaging mass spectrometry of integral membrane proteins from ocular lens and retinal tissuePKC putative phosphorylation site Ser235 is required for MIP/AQP0 translocation to the plasma membrane.Transgenic expression of AQP1 in the fiber cells of AQP0 knockout mouse: effects on lens transparency.Novel mouse type D endogenous proviruses and ETn elements share long terminal repeat and internal sequences.Cell specificity of aquaporins 0, 3, and 10 expressed in the testis, efferent ducts, and epididymis of adult rats.A temperature-sensitive mutation of Crygs in the murine Opj cataract.Impaired cytoskeletal organization and membrane integrity in lens fibers of a Rho GTPase functional knockout transgenic mouse.A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.Protein aging: truncation of aquaporin 0 in human lens regions is a continuous age-dependent process.Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese familyMouse models of congenital cataract.The importance of aquaporin water channel protein structures.MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens.Disruption of retinoblastoma protein family function by human papillomavirus type 16 E7 oncoprotein inhibits lens development in part through E2F-1.The genetics of childhood cataractStructural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts.The genetics of cataract: our vision becomes clearer.The impact of L1 retrotransposons on the human genome.A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.A 5-bp insertion in Mip causes recessive congenital cataract in KFRS4/Kyo ratsThe cellular and molecular mechanisms of vertebrate lens development.Thermal stress induced aggregation of aquaporin 0 (AQP0) and protection by α-crystallin via its chaperone function.Keeping an eye on SOXC proteins.Major intrinsic protein (MIP) polymorphism is associated with age-related cataract in Chinese.Clinical and genetic heterogeneity in autosomal dominant cataract.
P2860
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P2860
Mutations in the founder of the MIP gene family underlie cataract development in the mouse.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
1996年學術文章
@zh-hant
name
Mutations in the founder of th ...... ract development in the mouse.
@en
Mutations in the founder of th ...... ract development in the mouse.
@nl
type
label
Mutations in the founder of th ...... ract development in the mouse.
@en
Mutations in the founder of th ...... ract development in the mouse.
@nl
prefLabel
Mutations in the founder of th ...... ract development in the mouse.
@en
Mutations in the founder of th ...... ract development in the mouse.
@nl
P2860
P356
P1433
P1476
Mutations in the founder of th ...... aract development in the mouse
@en
P2093
P2860
P2888
P304
P356
10.1038/NG0296-212
P407
P577
1996-02-01T00:00:00Z