Alport syndrome: from bedside to genome to bedside (Q40779219)

23 September 2017

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title

Alport syndrome: from bedside to genome to bedside (English)

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23 September 2017

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Kashtan CE

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23 September 2017

Michael AF

series ordinal

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23 September 2017

publication date

1 November 1993

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American Journal of Kidney Diseases

23 September 2017

published in

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23 September 2017

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23 September 2017

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23 September 2017

page(s)

627-640

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HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

23 September 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

GLOMERULONEPHRITIS IN TWO SETS OF IDENTICAL TWINS. ELECTRON MICROSCOPIC STUDIES OF RENAL BIOPSY SPECIMENS

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7 January 2021

Hereditary nephritis. Early clinical, functional, and morphological studies

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Split and extremely thin glomerular basement membranes in hereditary nephropathy (Alport's syndrome).

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

The glomerular basal lamina in hereditary nephritis

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

ANTERIOR LENTICONUS IN FAMILIAL HEMORRHAGIC NEPHRITIS. DEMONSTRATION OF LENS PATHOLOGY

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Lens capsule abnormalities in Alport's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Diagnosis of hereditary nephritis by failure of glomeruli to bind anti-glomerular basement membrane antibodies

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Goodpasture antigen of the glomerular basement membrane: localization to noncollagenous regions of type IV collagen

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

The development of anti-glomerular basement membrane nephritis in two children with Alport's syndrome after renal transplantation: characterization of the antibody target

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Alport familial nephritis. Absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Hereditary Nephritis: A Re-examination of its Clinical and Genetic Features

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Genetics of classic Alport's syndrome

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Linkage studies in X-linked Alport's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Localization of the gene for X-linked Alport's syndrome

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Gene mapping in Alport families with different basement membrane antigenic phenotypes

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

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

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Identification of variant Alport phenotypes using an Alport-specific antibody probe

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Expression of novel basement membrane components in the developing human kidney and eye.

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Immunochemical studies of the Alport antigen

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

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

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Alport syndrome caused by a 5' deletion within the COL4A5 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

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/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Deletions of the COL4A5 gene in patients with Alport syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

The structure of type IV collagen

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Completion of the amino acid sequence of the alpha 1 chain of human basement membrane collagen (type IV) reveals 21 non-triplet interruptions located within the collagenous domain

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

A network model for the organization of type IV collagen molecules in basement membranes

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

The role of the main noncollagenous domain (NC1) in type IV collagen self-assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Attachment of cells to basement membrane collagen type IV.

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Binding of laminin to type IV collagen: a morphological study

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Models for the self-assembly of basement membrane

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

The Goodpasture antigen in Alport's syndrome: studies with a monoclonal antibody

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Basement membrane collagen in the kidney: regional localization of novel chains related to collagen IV

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Two CA-dinucleotide polymorphisms at the COL4A5 (Alport syndrome) gene in Xq22

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Outcome of thirty patients with Alport's syndrome after renal transplantation

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Alport's syndrome: risk of glomerulonephritis induced by anti-glomerular-basement-membrane antibody after renal transplantation

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Recurrent allograft antiglomerular basement membrane glomerulonephritis in a patient with Alport's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Failure of two subsequent renal grafts by anti-GBM glomerulonephritis in Alport's syndrome: case report and review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

The case of the two disparate diseases: a medical mystery. Part 1

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Absence of nephritogenic GBM antigen(s) in some patients with hereditary nephritis

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Allograft antiglomerular basement membrane glomerulonephritis in a patient with Alport's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

The pathogenesis of Alport syndrome involves type IV collagen molecules containing the alpha 3(IV) chain: evidence from anti-GBM nephritis after renal transplantation

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Gene deletions in patients with haemophilia B and anti-factor IX antibodies

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

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/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Codistribution of collagen types IV and AB2 in basement membranes and mesangium of the kidney. an immunoferritin study of ultrathin frozen sections

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Immunochemistry, genuine size and tissue localization of collagen VI.

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https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Pathogenesis and significance of nonprimary focal and segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

Effect of cyclosporin A on proteinuria in patients with Alport's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2812%2980424-0

7 January 2021

10.1016/S0272-6386(12)80424-0

Identifiers

DOI

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23 September 2017

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