Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
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SLITRK6 mutations cause myopia and deafness in humans and miceA review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosisApolipoprotein E receptors in the nervous systemDonnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomyGenes and brain malformations associated with abnormal neuron positioningMegalin in acute kidney injury: foe and friendThe cellular and physiological functions of the Lowe syndrome protein OCRL1Podocyte endocytosis in the regulation of the glomerular filtration barrierFoxg1-Cre Mediated Lrp2 Inactivation in the Developing Mouse Neural Retina, Ciliary and Retinal Pigment Epithelia Models Congenital High MyopiaThe fast-recycling receptor Megalin defines the apical recycling pathway of epithelial cells.Megalin/LRP2 expression is induced by peroxisome proliferator-activated receptor -alpha and -gamma: implications for PPARs' roles in renal functionSequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic herniaProteome of human perilymph.Subfractionation, characterization, and in-depth proteomic analysis of glomerular membrane vesicles in human urineClinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Exon microarray analysis of human dorsolateral prefrontal cortex in alcoholismMutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)Rediscovering Beta-2 Microglobulin As a Biomarker across the Spectrum of Kidney Diseases.Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucomaGenetic aspects of human congenital diaphragmatic hernia.Luminal Na(+)/H (+) exchange in the proximal tubuleGenetic tools and algorithms for gene discovery in major congenital anomalies.Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.Gyral folding pattern analysis via surface profiling.Rare inherited kidney diseases: challenges, opportunities, and perspectives.Whole exome sequencing of extreme morbid obesity patients: translational implications for obesity and related disordersIdentification of two maternal transmission ratio distortion loci in pedigrees of the Framingham heart study.More than cholesterol transporters: lipoprotein receptors in CNS function and neurodegenerationSequencing of LRP2 reveals multiple rare variants associated with urinary trefoil factor-3.Enhanced excretion of vitamin D binding protein in type 1 diabetes: a role in vitamin D deficiency?A forward genetic screen in mice identifies mutants with abnormal cortical patterning.Genetic causes of congenital diaphragmatic herniaMicroalbuminuria in type 1 diabetes is associated with enhanced excretion of the endocytic multiligand receptors megalin and cubilin.Dysregulation of the intrarenal vitamin D endocytic pathway in a nephropathy-prone mouse model of type 1 diabetes.Metabolic disturbances of the vitamin A pathway in human diaphragmatic herniaThe bugeye mutant zebrafish exhibits visual deficits that arise with the onset of an enlarged eye phenotype.Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets.Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 MicrodeletionsCholesterol: its regulation and role in central nervous system disorders.Mutations in phosphoinositide metabolizing enzymes and human disease.
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P2860
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
description
2007 nî lūn-bûn
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2007 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Mutations in LRP2, which encod ...... culo-acoustico-renal syndromes
@ast
Mutations in LRP2, which encod ...... culo-acoustico-renal syndromes
@en
Mutations in LRP2, which encod ...... culo-acoustico-renal syndromes
@nl
type
label
Mutations in LRP2, which encod ...... culo-acoustico-renal syndromes
@ast
Mutations in LRP2, which encod ...... culo-acoustico-renal syndromes
@en
Mutations in LRP2, which encod ...... culo-acoustico-renal syndromes
@nl
prefLabel
Mutations in LRP2, which encod ...... culo-acoustico-renal syndromes
@ast
Mutations in LRP2, which encod ...... culo-acoustico-renal syndromes
@en
Mutations in LRP2, which encod ...... culo-acoustico-renal syndromes
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Mutations in LRP2, which encod ...... culo-acoustico-renal syndromes
@en
P2093
Ahmad Teebi
Barbara R Pober
Christopher A Walsh
David T MacLaughlin
Dian Donnai
Eric Bieth
Graeme C M Black
Kristin M Noonan
Maria Loscertales
Meaghan K Russell
P2860
P2888
P3181
P356
10.1038/NG2063
P407
P577
2007-08-01T00:00:00Z
P5875
P6179
1017463554