A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor
about
Requirement of prorenin receptor and vacuolar H+-ATPase-mediated acidification for Wnt signalingSeizures and X-linked intellectual disabilityXLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingThe reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behaviorAutophagy and the (Pro)renin ReceptorUpdate on RAAS Modulation for the Treatment of Diabetic Cardiovascular DiseaseDrosophila ATP6AP2/VhaPRR functions both as a novel planar cell polarity core protein and a regulator of endosomal traffickingConditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegenerationAltered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).A current view of brain renin-angiotensin system: Is the (pro)renin receptor the missing link?Genome annotation for clinical genomic diagnostics: strengths and weaknessesSoluble (Pro)renin Receptor and Obstructive Sleep Apnea Syndrome: Oxidative Stress in Brain?Genomic features defining exonic variants that modulate splicing.Renin, (pro)renin and receptor: an update.Aliskiren - an alternative to angiotensin-converting enzyme inhibitors or angiotensin receptor blockers in the therapy of arterial hypertensionDistinct signal transduction pathways downstream of the (P)RR revealed by microarray and ChIP-chip analysesThe role of individual domains and the significance of shedding of ATP6AP2/(pro)renin receptor in vacuolar H(+)-ATPase biogenesis.(Pro)renin Receptor in Kidney Development and Disease.Similarities and differences of X and Y chromosome homologous genes, SRY and SOX3, in regulating the renin-angiotensin system promoters.Prorenin receptor is essential for podocyte autophagy and survival.Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patientsProrenin receptor is critical for nephron progenitors.The Prorenin and (Pro)renin Receptor: New Players in the Brain Renin-Angiotensin System?The (pro)renin receptor. A decade of research: what have we learned?HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.Prorenin and the (pro)renin receptor in ocular pathologyA missense mutation in CASK causes FG syndrome in an Italian familyA role of the (pro)renin receptor in neuronal cell differentiation.The (pro)renin receptor in health and disease.Novel neurohormonal insights with therapeutic potential in chronic heart failure.The role of proton transporters in epithelial Wnt signaling pathways.Potential cross-talk between (pro)renin receptors and Wnt/frizzled receptors in cardiovascular and renal disorders.Prorenin receptor regulates more than the renin-angiotensin system.Genetics, molecular biology, and phenotypes of x-linked epilepsy.(Pro)renin receptor and V-ATPase: from Drosophila to humans.The Role of the (Pro)renin Receptor in Hypertensive Disease.Prorenin receptor controls renal branching morphogenesis via Wnt/β-catenin signaling.Prorenin receptor in kidney development.Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease.Estimating the prevalence of functional exonic splice regulatory information.
P2860
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P2860
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor
description
2005 nî lūn-bûn
@nan
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
A unique exonic splice enhance ...... vel role of the renin receptor
@ast
A unique exonic splice enhance ...... vel role of the renin receptor
@en
A unique exonic splice enhance ...... vel role of the renin receptor
@en-gb
A unique exonic splice enhance ...... vel role of the renin receptor
@nl
type
label
A unique exonic splice enhance ...... vel role of the renin receptor
@ast
A unique exonic splice enhance ...... vel role of the renin receptor
@en
A unique exonic splice enhance ...... vel role of the renin receptor
@en-gb
A unique exonic splice enhance ...... vel role of the renin receptor
@nl
prefLabel
A unique exonic splice enhance ...... vel role of the renin receptor
@ast
A unique exonic splice enhance ...... vel role of the renin receptor
@en
A unique exonic splice enhance ...... vel role of the renin receptor
@en-gb
A unique exonic splice enhance ...... vel role of the renin receptor
@nl
P2093
P2860
P3181
P356
P1476
A unique exonic splice enhance ...... vel role of the renin receptor
@en
P2093
Celine A Burckle
Charles E Schwartz
Claus Lenski
Fatima E Abidi
Gaiping Wen
Genevieve Nguyen
Helga Toriello
Herbert A Lubs
Juliane Ramser
Roger E Stevenson
P2860
P304
P3181
P356
10.1093/HMG/DDI094
P407
P577
2005-04-15T00:00:00Z