Published in J Am Soc Nephrol on June 21, 2006
Genetics of congenital anomalies of the kidney and urinary tract. Pediatr Nephrol (2010) 1.25
Congenital anomalies of the kidney and urinary tract: a genetic disorder? Int J Nephrol (2012) 1.06
Angiotensin I-converting enzyme mutation (Trp1197Stop) causes a dramatic increase in blood ACE. PLoS One (2009) 0.92
Angiotensin I-converting enzyme Gln1069Arg mutation impairs trafficking to the cell surface resulting in selective denaturation of the C-domain. PLoS One (2010) 0.91
Inherited renal tubular dysgenesis: the first patients surviving the neonatal period. Eur J Pediatr (2007) 0.86
Inherited renal tubular dysgenesis may not be universally fatal. Pediatr Nephrol (2010) 0.85
Renin-angiotensin system-growth factor cross-talk: a novel mechanism for ureteric bud morphogenesis. Pediatr Nephrol (2008) 0.85
Angiotensin-II receptor 1 antagonist fetopathy--risk assessment, critical time period and vena cava thrombosis as a possible new feature. Br J Clin Pharmacol (2013) 0.84
Renal tubular dysgenesis. Pediatr Nephrol (2013) 0.84
Receptor tyrosine kinases in kidney development. J Signal Transduct (2011) 0.82
Renin-angiotensin system in ureteric bud branching morphogenesis: insights into the mechanisms. Pediatr Nephrol (2011) 0.82
A new role for the renin-angiotensin system in the development of the ureteric bud and renal collecting system. Keio J Med (2008) 0.79
(Pro)renin Receptor in Kidney Development and Disease. Int J Nephrol (2011) 0.78
Renin-angiotensin system in ureteric bud branching morphogenesis: implications for kidney disease. Pediatr Nephrol (2013) 0.78
Angiotensin II receptor antagonists against migraine in pregnancy: fatal outcome. J Headache Pain (2010) 0.77
Development of the kidney medulla. Organogenesis (2012) 0.76
SERPINE 1 Links Obesity and Diabetes: A Pilot Study. J Proteomics Bioinform (2010) 0.76
Impaired proteostasis contributes to renal tubular dysgenesis. PLoS One (2011) 0.76
Congenital unilateral renal tubular dysgenesis and severe neonatal hypertension. Pediatr Nephrol (2008) 0.75
The relevance of the Renin-Angiotensin system in the development of drugs to combat preeclampsia. Int J Endocrinol (2015) 0.75
Maternal drugs and neonatal renal failure. Indian J Nephrol (2014) 0.75
Fetal renin-angiotensin-system blockade syndrome: renal lesions. Pediatr Nephrol (2014) 0.75
Renal and retinal effects of enalapril and losartan in type 1 diabetes. N Engl J Med (2009) 6.75
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet (2007) 4.63
Expression of variant TMPRSS2/ERG fusion messenger RNAs is associated with aggressive prostate cancer. Cancer Res (2006) 4.50
Transient low doses of DNA-demethylating agents exert durable antitumor effects on hematological and epithelial tumor cells. Cancer Cell (2012) 3.82
Identification, activation, and selective in vivo ablation of mouse NK cells via NKp46. Proc Natl Acad Sci U S A (2007) 3.60
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35
Six2 is required for suppression of nephrogenesis and progenitor renewal in the developing kidney. EMBO J (2006) 3.26
Hypoxia, hypoxia-inducible transcription factor, and macrophages in human atherosclerotic plaques are correlated with intraplaque angiogenesis. J Am Coll Cardiol (2008) 3.24
Oxidative damage targets complexes containing DNA methyltransferases, SIRT1, and polycomb members to promoter CpG Islands. Cancer Cell (2011) 3.07
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet (2013) 2.91
Mid-term results demonstrate salvage high-intensity focused ultrasound (HIFU) as an effective and acceptably morbid salvage treatment option for locally radiorecurrent prostate cancer. Eur Urol (2008) 2.84
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet (2008) 2.74
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet (2004) 2.67
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A (2004) 2.41
Angiopoietin-like 4 is a proangiogenic factor produced during ischemia and in conventional renal cell carcinoma. Am J Pathol (2003) 2.30
Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res (2003) 2.29
Pleiotropic biological activities of alternatively spliced TMPRSS2/ERG fusion gene transcripts. Cancer Res (2008) 2.18
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol (2003) 2.12
Low mitochondrial respiratory chain content correlates with tumor aggressiveness in renal cell carcinoma. Carcinogenesis (2002) 2.04
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet (2009) 2.03
Amniotic fluid beta-endorphin: a prognostic marker for gastroschisis? J Pediatr Surg (2002) 2.03
Drosophila TCTP is essential for growth and proliferation through regulation of dRheb GTPase. Nature (2007) 2.01
Compound heterozygous mutations of the TNXB gene cause primary myopathy. Neuromuscul Disord (2013) 2.01
Control of prostate cancer by transrectal HIFU in 227 patients. Eur Urol (2006) 1.99
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet (2004) 1.94
Implication of Ref-1 in the repression of renin gene transcription by intracellular calcium. J Hypertens (2003) 1.83
Angiopoietin-like 4 prevents metastasis through inhibition of vascular permeability and tumor cell motility and invasiveness. Proc Natl Acad Sci U S A (2006) 1.79
Multiple promoters in the WNK1 gene: one controls expression of a kidney-specific kinase-defective isoform. Mol Cell Biol (2003) 1.76
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet (2010) 1.76
Extracellular matrix-bound angiopoietin-like 4 inhibits endothelial cell adhesion, migration, and sprouting and alters actin cytoskeleton. Circ Res (2006) 1.73
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. J Clin Invest (2003) 1.73
Angiotensinogen and its cleaved derivatives inhibit angiogenesis. Hypertension (2002) 1.72
Hepatic stem-like phenotype and interplay of Wnt/beta-catenin and Myc signaling in aggressive childhood liver cancer. Cancer Cell (2008) 1.70
Lessons from constitutively active mutants of G protein-coupled receptors. Trends Endocrinol Metab (2002) 1.70
Renal translocation carcinomas: clinicopathologic, immunohistochemical, and gene expression profiling analysis of 31 cases with a review of the literature. Am J Surg Pathol (2008) 1.70
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat Genet (2005) 1.70
A novel CLTC-TFE3 gene fusion in pediatric renal adenocarcinoma with t(X;17)(p11.2;q23). Oncogene (2003) 1.67
Functionality of two new polymorphisms in the human renin gene enhancer region. J Hypertens (2002) 1.65
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathol (2008) 1.64
Accuracy and clinical role of fine needle percutaneous biopsy with computerized tomography guidance of small (less than 4.0 cm) renal masses. J Urol (2004) 1.63
CD133 is a marker of bioenergetic stress in human glioma. PLoS One (2008) 1.63
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. J Am Soc Nephrol (2006) 1.63
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62
Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol (2007) 1.56
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int (2005) 1.55
Steroid receptor coactivator-3/AIB1 promotes cell migration and invasiveness through focal adhesion turnover and matrix metalloproteinase expression. Cancer Res (2008) 1.54
IgG4-related systemic disease: features and treatment response in a French cohort: results of a multicenter registry. Medicine (Baltimore) (2012) 1.54
Intractable diarrhea with tufting enteropathy: a favorable outcome is possible. J Pediatr Gastroenterol Nutr (2011) 1.51
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet (2010) 1.50
Liver regeneration and recanalization time course following reversible portal vein embolization. J Hepatol (2008) 1.49
Soluble form of the (pro)renin receptor generated by intracellular cleavage by furin is secreted in plasma. Hypertension (2009) 1.48
MafB deficiency causes defective respiratory rhythmogenesis and fatal central apnea at birth. Nat Neurosci (2003) 1.48
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat (2009) 1.48
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. Eur J Med Genet (2011) 1.48
Ureteric bud outgrowth in response to RET activation is mediated by phosphatidylinositol 3-kinase. Dev Biol (2002) 1.45
Adrenomedullin as a therapeutic target in angiogenesis. Expert Opin Ther Targets (2010) 1.45
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet (2012) 1.44
Intraductal papillary-mucinous tumors of the pancreas: predictive criteria of malignancy according to pathological examination of 53 cases. Arch Surg (2002) 1.44
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. Am J Med Genet A (2009) 1.44
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet (2005) 1.43
Strain-controlled magnetic domain wall propagation in hybrid piezoelectric/ferromagnetic structures. Nat Commun (2013) 1.43
Multifocal myocardial necrosis: a distinctive cardiac lesion in cystic fibrosis, lipomatous pancreatic atrophy, and Keshan disease. Pediatr Pathol Mol Med (2002) 1.42
Latex allergy in children with urological malformation and chronic renal failure. J Urol (2004) 1.42
Expression of endothelins in human cardiogenesis. J Mol Med (Berl) (2002) 1.41
Identification and characterization of mouse metastasis-suppressor KiSS1 and its G-protein-coupled receptor. Cancer Res (2002) 1.38
Long term culture of mesenchymal stem cells in hypoxia promotes a genetic program maintaining their undifferentiated and multipotent status. BMC Cell Biol (2011) 1.38
Proximal tibial epiphyseal intraosseous schwannoma: a rare entity. J Pediatr Orthop (2008) 1.38
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet (2012) 1.36
Wortmannin induces homotypic fusion of plant prevacuolar compartments. J Exp Bot (2009) 1.35
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet (2011) 1.34
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet (2013) 1.32
Sequential development of perinuclear ANCA-associated vasculitis and anti-glomerular basement membrane glomerulonephritis. Am J Kidney Dis (2004) 1.32
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol (2013) 1.31
Glucocorticoid receptor antagonism as a novel therapy for triple-negative breast cancer. Clin Cancer Res (2013) 1.31
Long-term outcome of prenatally detected posterior urethral valves: single center study of 65 cases managed by primary valve ablation. J Urol (2007) 1.31
Characterization of the expression of the hypoxia-induced genes neuritin, TXNIP and IGFBP3 in cancer. FEBS Lett (2006) 1.30
Robo4 maintains vessel integrity and inhibits angiogenesis by interacting with UNC5B. Dev Cell (2011) 1.29
Angiogenic activity of human chorionic gonadotropin through LH receptor activation on endothelial and epithelial cells of the endometrium. FASEB J (2006) 1.29
Polycomb CBX7 promotes initiation of heritable repression of genes frequently silenced with cancer-specific DNA hypermethylation. Cancer Res (2009) 1.28