Alport syndrome: facts and opinions.

Bardoxolone methyl and kidney function in CKD with type 2 diabetes. N Engl J Med (2011) 8.54

Bone-marrow-derived stem cells repair basement membrane collagen defects and reverse genetic kidney disease. Proc Natl Acad Sci U S A (2006) 3.03

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol (2000) 2.71

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy. J Am Soc Nephrol (2007) 2.40

Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. Kidney Int (2011) 2.34

Preemptive ramipril therapy delays renal failure and reduces renal fibrosis in COL4A3-knockout mice with Alport syndrome. Kidney Int (2003) 2.20

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

Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis. J Clin Invest (1997) 2.03

Integrin alpha1beta1 and transforming growth factor-beta1 play distinct roles in alport glomerular pathogenesis and serve as dual targets for metabolic therapy. Am J Pathol (2000) 1.90

Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations. Kidney Int (2012) 1.87

Stem cell therapies benefit Alport syndrome. J Am Soc Nephrol (2009) 1.83

Multipotent mesenchymal stem cells reduce interstitial fibrosis but do not delay progression of chronic kidney disease in collagen4A3-deficient mice. Kidney Int (2006) 1.82

Genetics of classic Alport's syndrome. Lancet (1988) 1.73

Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant (2002) 1.72

Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol (2013) 1.52

Glomerular basement membrane. Identification of a novel disulfide-cross-linked network of alpha3, alpha4, and alpha5 chains of type IV collagen and its implications for the pathogenesis of Alport syndrome. J Biol Chem (1998) 1.51

Antihypertensive and antiproteinuric efficacy of ramipril in children with chronic renal failure. Kidney Int (2004) 1.50

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. J Am Soc Nephrol (2001) 1.46

Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys. Am J Pathol (2000) 1.37

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int (2002) 1.35

Distribution of the alpha 1 and alpha 2 chains of collagen IV and of collagens V and VI in Alport syndrome. Kidney Int (1992) 1.30

Anti-microRNA-21 oligonucleotides prevent Alport nephropathy progression by stimulating metabolic pathways. J Clin Invest (2014) 1.24

Role for transforming growth factor-beta1 in alport renal disease progression. Kidney Int (1999) 1.22

Abnormal glomerular basement membrane laminins in murine, canine, and human Alport syndrome: aberrant laminin alpha2 deposition is species independent. J Am Soc Nephrol (2001) 1.20

Delayed chemokine receptor 1 blockade prolongs survival in collagen 4A3-deficient mice with Alport disease. J Am Soc Nephrol (2005) 1.19

Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol (2010) 1.19

Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative. Pediatr Nephrol (2012) 1.17

Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. Kidney Int (1995) 1.16

The renal lesions of Alport syndrome. J Am Soc Nephrol (2009) 1.15

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. Am J Hum Genet (1998) 1.13

Loss of collagen-receptor DDR1 delays renal fibrosis in hereditary type IV collagen disease. Matrix Biol (2010) 1.09

Improving mutation screening in familial hematuric nephropathies through next generation sequencing. J Am Soc Nephrol (2014) 1.08

Nanoscale protein architecture of the kidney glomerular basement membrane. Elife (2013) 1.06

Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model for autosomal Alport syndrome. Hear Res (1998) 1.03

Antifibrotic, nephroprotective potential of ACE inhibitor vs AT1 antagonist in a murine model of renal fibrosis. Nephrol Dial Transplant (2004) 1.01

Alport syndrome and the X chromosome: implications of a diagnosis of Alport syndrome in females. Nephrol Dial Transplant (2007) 1.00

Distribution of type IV collagen in the cochlea in Alport syndrome. Arch Otolaryngol Head Neck Surg (2005) 1.00

Thin-basement-membrane nephropathy in adults with persistent hematuria. N Engl J Med (1989) 0.99

The ultrastructure of the lens capsule abnormalities in Alport's syndrome. Jpn J Ophthalmol (1999) 0.99

Matrix metalloproteinase dysregulation in the stria vascularis of mice with Alport syndrome: implications for capillary basement membrane pathology. Am J Pathol (2005) 0.98

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. Clin Genet (2013) 0.98

Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain. Kidney Int (2013) 0.97

Lens capsule abnormalities in Alport's syndrome. Arch Ophthalmol (1987) 0.97

α1β1 integrin/Rac1-dependent mesangial invasion of glomerular capillaries in Alport syndrome. Am J Pathol (2013) 0.96

Safety and Efficacy of the ACE-Inhibitor Ramipril in Alport Syndrome: The Double-Blind, Randomized, Placebo-Controlled, Multicenter Phase III EARLY PRO-TECT Alport Trial in Pediatric Patients. ISRN Pediatr (2012) 0.96

Feasibility of repairing glomerular basement membrane defects in Alport syndrome. J Am Soc Nephrol (2013) 0.94

Immunohistologic studies of type IV collagen in anterior lens capsules of patients with Alport syndrome. Lab Invest (1994) 0.91

Laminin α2-mediated focal adhesion kinase activation triggers Alport glomerular pathogenesis. PLoS One (2014) 0.90

Evidence of digenic inheritance in Alport syndrome. J Med Genet (2015) 0.88

Temporal bone histopathology in alport syndrome. Laryngoscope (2004) 0.84

Ultrastructural and immunohistochemical findings in Alport's syndrome: a study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations. J Am Soc Nephrol (1998) 0.83

Nephroprotection by antifibrotic and anti-inflammatory effects of the vasopeptidase inhibitor AVE7688. Kidney Int (2005) 0.83

Red cell traverse through thin glomerular basement membrane. Kidney Int (2002) 0.83

A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen. Nephrol Dial Transplant (2016) 0.81

Alport Syndrome in Women and Girls. Clin J Am Soc Nephrol (2016) 0.81

Diagnosis of Alport syndrome--search for proteomic biomarkers in body fluids. Pediatr Nephrol (2013) 0.81

Endothelin A receptor activation on mesangial cells initiates Alport glomerular disease. Kidney Int (2016) 0.80

Chronology of renal scarring in males with Alport syndrome. Pediatr Nephrol (1998) 0.80

Evidence for genetic heterogeneity in benign familial hematuria. Am J Nephrol (1999) 0.80

Mechanical response of wild-type and Alport murine lens capsules during osmotic swelling. Exp Eye Res (2013) 0.79

Three-dimensional electron microscopy reveals the evolution of glomerular barrier injury. Sci Rep (2016) 0.77

Albumin contributes to kidney disease progression in Alport syndrome. Am J Physiol Renal Physiol (2016) 0.77

Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome. Clin J Am Soc Nephrol (2013) 0.76

Preclinical Alterations in the Serum of COL(IV)A3(-)/(-) Mice as Early Biomarkers of Alport Syndrome. J Proteome Res (2015) 0.75

The nongenetic diagnosis of thin basement membrane nephropathy. Semin Nephrol (2005) 0.75

Endothelin-1 mediated induction of extracellular matrix genes in strial marginal cells underlies strial pathology in Alport mice. Hear Res (2016) 0.75

Acute kidney injury in pediatric hematopoietic cell transplantation: critical appraisal and consensus. Pediatr Nephrol (2022) 0.75