Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria
about
The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporterThe EPHA2 gene is associated with cataracts linked to chromosome 1pEPHA2 is associated with age-related cortical cataract in mice and humansEffect of canagliflozin on renal threshold for glucose, glycemia, and body weight in normal and diabetic animal modelsJuvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane.Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.Cat-Map: putting cataract on the mapCritical role of Klf5 in regulating gene expression during post-eyelid opening maturation of mouse corneas.Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.Hematologic biomarkers in childhood cataracts.Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause GlucosuriaMaternal plasma folate impacts differential DNA methylation in an epigenome-wide meta-analysis of newbornsGem-1 encodes an SLC16 monocarboxylate transporter-related protein that functions in parallel to the gon-2 TRPM channel during gonad development in Caenorhabditis elegans.An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.X-linked creatine transporter deficiency: clinical aspects and pathophysiology.Multimodal Regulation Orchestrates Normal and Complex Disease States in the RetinaMonocarboxylate Transporters: Therapeutic Targets and Prognostic Factors in Disease.A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer.Optimization of Gaussian Kernel Function in Support Vector Machine aided QSAR studies of C-aryl glucoside SGLT2 inhibitors.Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.The clinical consequences of hemizygosity across 2 MB of 10q23 are restricted to Cowden syndrome.
P2860
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P2860
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria
description
2008 nî lūn-bûn
@nan
2008 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մարտին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Mutation of solute carrier SLC ...... crocornea and renal glucosuria
@ast
Mutation of solute carrier SLC ...... crocornea and renal glucosuria
@en
Mutation of solute carrier SLC ...... crocornea and renal glucosuria
@nl
type
label
Mutation of solute carrier SLC ...... crocornea and renal glucosuria
@ast
Mutation of solute carrier SLC ...... crocornea and renal glucosuria
@en
Mutation of solute carrier SLC ...... crocornea and renal glucosuria
@nl
prefLabel
Mutation of solute carrier SLC ...... crocornea and renal glucosuria
@ast
Mutation of solute carrier SLC ...... crocornea and renal glucosuria
@en
Mutation of solute carrier SLC ...... crocornea and renal glucosuria
@nl
P2093
P2860
P50
P1476
Mutation of solute carrier SLC ...... crocornea and renal glucosuria
@en
P2093
Barbara Kloeckener-Gruissem
Isaak Schipper
John Neidhardt
Kristof Vandekerckhove
Wolfgang Berger
P2860
P356
10.1016/J.AJHG.2007.12.013
P407
P577
2008-03-01T00:00:00Z