(Q37038419)

17 August 2017

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title

Inherited diseases of the glomerular basement membrane (English)

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17 August 2017

Marie Claire Gubler

1

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17 August 2017

1 January 2008

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Nature Clinical Practice Nephrology

17 August 2017

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17 August 2017

4

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17 August 2017

24-37

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17 August 2017

1

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Agrin is a major heparan sulfate proteoglycan in the human glomerular basement membrane

17 August 2017

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

Alport syndrome: from bedside to genome to bedside

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

Lenticonus anterior and Alport's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

A human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

Structure and biological activity of basement membrane proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha 5(IV) and alpha 6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Collagen IV alpha 3, alpha 4, and alpha 5 chains in rodent basal laminae: sequence, distribution, association with laminins, and developmental switches

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Immunohistochemical localization of basement membrane collagens and associated proteins in the murine cochlea

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

The NC1 domain of collagen IV encodes a novel network composed of the alpha 1, alpha 2, alpha 5, and alpha 6 chains in smooth muscle basement membranes

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Comparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Basement membrane structure in situ: evidence for lateral associations in the type IV collagen network.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

1 reference

7 January 2021

Renal basement membrane components

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

A simplified laminin nomenclature

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Renal entactin (nidogen): isolation, characterization and tissue distribution

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Genetics of classic Alport's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Alport's syndrome. A report of 58 cases and a review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Alport's syndrome in 78 patients: epidemiological and clinical study.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Recurrent corneal erosion associated with Alport's syndrome. Rapid communication

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Molecular genetics of Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME).

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Immunohistochemical study of alpha 1-5 chains of type IV collagen in hereditary nephritis

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Distribution of the alpha 1 and alpha 2 chains of collagen IV and of collagens V and VI in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Thin basement membrane nephropathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Thin basement membrane nephropathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Evidence for Genetic Heterogeneity in Benign Familial Hematuria

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Genetic Testing for X-Linked Alport Syndrome by Direct Sequencing of COL4A5 cDNA From Hair Root RNA Samples

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Bone-marrow-derived stem cells repair basement membrane collagen defects and reverse genetic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Bone marrow-derived cells contribute to podocyte regeneration and amelioration of renal disease in a mouse model of Alport syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Neonatal porencephaly and adult stroke related to mutations in collagen IV A1

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

The renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Proteinuria precedes podocyte abnormalities inLamb2-/- mice, implicating the glomerular basement membrane as an albumin barrier

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Nail patella syndrome: a review of the phenotype aided by developmental biology

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Renal disease in nail-patella syndrome: Clinical and morphologic studies

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

The nephropathy of the nail-patella syndrome. Clinicopathologic analysis of 11 kindred.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: report of a kindred

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Collagen type III glomerulopathy: a new type of hereditary nephropathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Collagen Type III Glomerulopathy: A New Idiopathic Glomerular Disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Inherited factor H deficiency and collagen type III glomerulopathy.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Glomerulopathy associated with predominant fibronectin deposits: a newly recognized hereditary disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Familial glomerulonephritis characterized by massive deposits of fibronectin

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Glomerulopathy associated with predominant fibronectin deposits: exclusion of the genes for fibronectin, villin and desmin as causative genes

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Severe fibronectin-deposit renal glomerular disease in mice lacking uteroglobin.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Exclusion of the uteroglobin gene as a candidate for fibronectin glomerulopathy (GFND)

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Molecular cloning of the critical region for glomerulopathy with fibronectin deposits (GFND) and evaluation of candidate genes

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEPH0671

7 January 2021

Identifiers

DOI

10.1038/NCPNEPH0671

1 reference

17 August 2017

1 reference

PubMed ID

18094725