Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
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Title
Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
Authors
Keywords
Pathogenic Variant, Kidney Development, Sort Intolerant From Tolerant, Metanephric Mesenchyme, Multicystic Dysplastic Kidney
Journal
HUMAN GENETICS
Volume 134, Issue 8, Pages 905-916
Publisher
Springer Nature
Online
2015-05-30
DOI
10.1007/s00439-015-1570-5
References
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Note: Only part of the references are listed.- Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
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- (2014) Daw-Yang Hwang et al. KIDNEY INTERNATIONAL
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans
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- Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
- (2013) Jan Halbritter et al. HUMAN GENETICS
- TNXB Mutations Can Cause Vesicoureteral Reflux
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- Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux
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- Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
- (2013) Pawaree Saisawat et al. KIDNEY INTERNATIONAL
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- (2013) S. Sanna-Cherchi et al. NEW ENGLAND JOURNAL OF MEDICINE
- Lower urinary tract development and disease
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- Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
- (2012) Moumita Chaki et al. CELL
- High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
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- Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities
- (2012) Lynn M. Boyden et al. NATURE
- Inhibitory Effects of Robo2 on Nephrin: A Crosstalk between Positive and Negative Signals Regulating Podocyte Structure
- (2012) Xueping Fan et al. Cell Reports
- RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects
- (2011) C. Jeanpierre et al. JOURNAL OF MEDICAL GENETICS
- Systematic Analysis of a Novel Human Renal Glomerulus-Enriched Gene Expression Dataset
- (2010) Maja T. Lindenmeyer et al. PLoS One
- ROBO2 Gene Variants Are Associated with Familial Vesicoureteral Reflux
- (2008) A. M. Bertoli-Avella et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
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