Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
about
Exploring the genetic basis of early-onset chronic kidney disease.Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.Renal development in the fetus and premature infant.Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract.Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract.Tyrosine dephosphorylated cortactin downregulates contractility at the epithelial zonula adherens through SRGAP1.SLIT2/ROBO2 signaling pathway inhibits nonmuscle myosin IIA activity and destabilizes kidney podocyte adhesion.Involvement of the bone morphogenic protein/SMAD signaling pathway in the etiology of congenital anomalies of the kidney and urinary tract accompanied by cryptorchidism.Identification of direct negative crosstalk between the SLIT2 and Bone Morphogenetic Protein-Gremlin signaling pathways.Mind the (sr)GAP - roles of Slit-Robo GAPs in neurons, brains and beyond.A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.The role of Slit-Robo signaling in the regulation of tissue barriers.Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity
P2860
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P2860
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Mutations of the SLIT2-ROBO2 p ...... the kidney and urinary tract.
@ast
Mutations of the SLIT2-ROBO2 p ...... the kidney and urinary tract.
@en
type
label
Mutations of the SLIT2-ROBO2 p ...... the kidney and urinary tract.
@ast
Mutations of the SLIT2-ROBO2 p ...... the kidney and urinary tract.
@en
prefLabel
Mutations of the SLIT2-ROBO2 p ...... the kidney and urinary tract.
@ast
Mutations of the SLIT2-ROBO2 p ...... the kidney and urinary tract.
@en
P2093
P2860
P50
P1433
P1476
Mutations of the SLIT2-ROBO2 p ...... the kidney and urinary tract.
@en
P2093
Albertien M van Eerde
Alina C Hilger
Asaf Vivante
Christoph Schell
Daw-Yang Hwang
Elijah O Kehinde
Friedhelm Hildebrandt
Gabriel C Dworschak
Glenn van de Hoek
Heiko M Reutter
P2860
P2888
P304
P356
10.1007/S00439-015-1570-5
P577
2015-05-31T00:00:00Z