scholarly article | Q13442814 |
P2093 | author name string | J Fielding Hejtmancik | |
Hui Lin | |||
Yanhua Qi | |||
P921 | main subject | phenotype | Q104053 |
P304 | page(s) | 1822-1827 | |
P577 | publication date | 2007-09-30 | |
P1433 | published in | Molecular Vision | Q6895981 |
P1476 | title | A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family | |
P478 | volume | 13 |
Q34505814 | A 5-bp insertion in Mip causes recessive congenital cataract in KFRS4/Kyo rats |
Q33916470 | A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract |
Q37473942 | A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family |
Q37326919 | A novel donor splice-site mutation of major intrinsic protein gene associated with congenital cataract in a Chinese family |
Q41245001 | A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse |
Q34493831 | A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family |
Q35024324 | A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family. |
Q33758626 | A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family |
Q35213915 | A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family |
Q35738860 | AKAP2 anchors PKA with aquaporin-0 to support ocular lens transparency. |
Q46102391 | Calmodulin Gates Aquaporin 0 Permeability through a Positively Charged Cytoplasmic Loop. |
Q35158256 | Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP. |
Q28115831 | Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion |
Q37545190 | Functions of the intermediate filament cytoskeleton in the eye lens |
Q35577778 | Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family |
Q34364049 | Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated region |
Q52562810 | Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis. |
Q37563474 | Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing |
Q37042479 | Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family. |
Q39370800 | Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis |
Q37226387 | Local cAMP signaling in disease at a glance |
Q33940687 | MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens |
Q30482128 | PKC putative phosphorylation site Ser235 is required for MIP/AQP0 translocation to the plasma membrane. |
Q36777942 | Phosphorylation determines the calmodulin-mediated Ca2+ response and water permeability of AQP0 |
Q34291121 | The Arg233Lys AQP0 mutation disturbs aquaporin0-calmodulin interaction causing polymorphic congenital cataract |
Q64913346 | The carboxy-terminus, a key regulator of protein function. |
Q30496221 | Transgenic expression of AQP1 in the fiber cells of AQP0 knockout mouse: effects on lens transparency |
Q34662275 | Two distinct aquaporin 0s required for development and transparency of the zebrafish lens |
Search more.