(Q38061008)

28 August 2017

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title

Alport syndrome--insights from basic and clinical research (English)

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28 August 2017

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Jenny Kruegel

1

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28 August 2017

Diana Rubel

series ordinal

2

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28 August 2017

Oliver Gross

series ordinal

3

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28 August 2017

language of work or name

English

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publication date

20 November 2012

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Nature Reviews Nephrology

28 August 2017

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28 August 2017

9

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28 August 2017

3

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28 August 2017

170-178

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https://scigraph.springernature.com/pub.10.1038/nrneph.2012.259

28 August 2017

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cites work

HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Alport's syndrome of hereditary nephritis with deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Genetics of classic Alport's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Genotype-phenotype correlation in X-linked Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

X inactivation, female mosaicism, and sex differences in renal diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

21 January 2018

Mammalian collagen IV

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Differential expression of two basement membrane collagen genes, COL4A6 and COL4A5, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Expression of basement membrane type IV collagen chains during postnatal development in the murine cochlea.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Distribution of type IV collagen in the cochlea in Alport syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Caught flat-footed: podocyte damage and the molecular bases of focal glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Alport's syndrome, Goodpasture's syndrome, and type IV collagen.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Basement membranes and human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Basement membranes in development and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Basement membrane components are key players in specialized extracellular matrices

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Glomerular pathology in Alport syndrome: a molecular perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Integrins in renal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

The podocyte cytoskeleton--key to a functioning glomerulus in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Cellular origins of type IV collagen networks in developing glomeruli.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Identification of the NC1 domain of {alpha}3 chain as critical for {alpha}3{alpha}4{alpha}5 type IV collagen network assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Laminin-1 reexpression in Alport mouse glomerular basement membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Organogenesis of the kidney glomerulus: focus on the glomerular basement membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Determinants of vascular permeability in the kidney glomerulus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Podocyte injury damages other podocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

New insights into epithelial-mesenchymal transition in kidney fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

A histologic study of nonmorphogenetic forms of hereditary hearing impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model for autosomal Alport syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Matrix metalloproteinase dysregulation in the stria vascularis of mice with Alport syndrome: implications for capillary basement membrane pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Biomechanical strain causes maladaptive gene regulation, contributing to Alport glomerular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Integrin alpha1beta1 regulates matrix metalloproteinases via P38 mitogen-activated protein kinase in mesangial cells: implications for Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Discoidin domain receptor 1 is activated independently of beta(1) integrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Inner ear defects and hearing loss in mice lacking the collagen receptor DDR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

DDR1-deficient mice show localized subepithelial GBM thickening with focal loss of slit diaphragms and proteinuria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Integrin α2-deficient mice provide insights into specific functions of collagen receptors in the kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Early glomerular filtration defect and severe renal disease in podocin-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Nephrin is involved in podocyte maturation but not survival during glomerular development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Advances in Alport syndrome diagnosis using next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

The renal lesions of Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

The use of ocular abnormalities to diagnose X-linked Alport syndrome in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Retinal findings in patients with Alport Syndrome: expanding the clinical spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Retinal basement membrane abnormalities and the retinopathy of Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

21 January 2018

Flecked-retina syndromes

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Alport syndrome. A review of the ocular manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Immunohistochemical and molecular genetic evidence for type IV collagen alpha5 chain abnormality in the anterior lenticonus associated with Alport syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

The inner ear of dogs with X-linked nephritis provides clues to the pathogenesis of hearing loss in X-linked Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Alport syndrome with diffuse leiomyomatosis. When and when not?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Ruptured intracranial aneurysm in an adolescent with Alport's syndrome--a new expression of type IV collagenopathy: case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Aortic abnormalities in males with Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Ventricular septal defect in a child with Alport syndrome: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Kidney failure in mice lacking the tetraspanin CD151.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Blood pressure influences end-stage renal disease of Cd151 knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

CD151 restricts the α6 integrin diffusion mode

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Non-muscle myosin IIA is required for the development of the zebrafish glomerulus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Alström syndrome: insights into the pathogenesis of metabolic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Antihypertensive and antiproteinuric efficacy of ramipril in children with chronic renal failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Strict blood-pressure control and progression of renal failure in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Preemptive ramipril therapy delays renal failure and reduces renal fibrosis in COL4A3-knockout mice with Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Treatment of X-linked hereditary nephritis in Samoyed dogs with angiotensin converting enzyme (ACE) inhibitor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Antifibrotic, nephroprotective potential of ACE inhibitor vs AT1 antagonist in a murine model of renal fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Involvement of glomerular renin-angiotensin system (RAS) activation in the development and progression of glomerular injury

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Role for transforming growth factor-beta1 in alport renal disease progression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Stage-specific action of matrix metalloproteinases influences progressive hereditary kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Delayed chemokine receptor 1 blockade prolongs survival in collagen 4A3-deficient mice with Alport disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Bone morphogenic protein-7 inhibits progression of chronic renal fibrosis associated with two genetic mouse models

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Multipotent mesenchymal stem cells reduce interstitial fibrosis but do not delay progression of chronic kidney disease in collagen4A3-deficient mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Stem cell therapy for Alport syndrome: the hope beyond the hype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Stem cell therapies benefit Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Injection of amniotic fluid stem cells delays progression of renal fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Irradiation prolongs survival of Alport mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Searching biomarker candidates in serum using multidimensional native chromatography. II Method evaluation with Alport syndrome and severe inflammation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

The complex of immunoglobulin A and uromodulin as a diagnostic marker for immunoglobulin A nephropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Urinary podocyte-associated mRNA profile in various stages of diabetic nephropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Loss of collagen-receptor DDR1 delays renal fibrosis in hereditary type IV collagen disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Clinical utility gene card for: Alport syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

[From the molecular genetics of Alport's syndrome to principles of organo-protection in chronic renal diseases]

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

The molecular basis of Goodpasture and Alport syndromes: beacons for the discovery of the collagen IV family

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Role of distinct type IV collagen networks in glomerular development and function

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Mechanisms of tubulointerstitial fibrosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Is genetic testing of healthy pre-symptomatic children with possible Alport syndrome ethical?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Electron microscopic examination of the anterior lens capsule in a case of Alport's syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Anterior lens capsule abnormalities in Alport syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Anterior Capsule Rupture and Subsequent Cataract Formation in Alport Syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Ocular manifestations of autosomal recessive Alport syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Association of a novel in-frame deletion mutation of the MYH9 gene with end-stage renal failure: case report and review of the literature

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Efficacy and safety of losartan in children with Alport syndrome--results from a subgroup analysis of a prospective, randomized, placebo- or amlodipine-controlled trial

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Alport syndrome and pregnancy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Pregnancy in women with Alport syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Nephroprotective effect of the HMG-CoA-reductase inhibitor cerivastatin in a mouse model of progressive renal fibrosis in Alport syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Genetic disorders of glomerular basement membranes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2012.259

Abnormal glomerular basement membrane laminins in murine, canine, and human Alport syndrome: aberrant laminin alpha2 deposition is species independent

31 March 2020

1 reference

12 December 2020

Antihypertensive and renoprotective efficacy and safety of losartan. A long-term study in children with renal disorders

1 reference

12 December 2020

The pathogenesis of 'classic' focal segmental glomerulosclerosis-lessons from rat models

1 reference

12 December 2020

Alport syndrome. Molecular genetic aspects

1 reference

12 December 2020

Molecular genetics of basement membranes: the paradigm of Alport syndrome.

1 reference

12 December 2020

Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness

1 reference

12 December 2020

Two-in-one: single coronary ostium and mitral valve prolapsus in a young female with Alport syndrome.

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRNEPH.2012.259

1 reference

28 August 2017

1 reference