(Q24685682)

1

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Marie-Claire Gubler

object named as

Marie-Claire Gubler

12

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Ernie M H F Bongers

2

object named as

Ernie M H F Bongers

0 references

author name string

Mireille Sich

3

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Shao-Yu Zhang

4

0 references

Alain Meyrier

6

0 references

Michel Broyer

7

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Gérard Landthaler

8

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Bernadette Faller

9

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Yoshikazu Sado

10

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Nine V A M Knoers

The American Journal of Pathology

11

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language of work or name

English

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publication date

July 2003

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published in

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volume

163

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issue

1

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page(s)

145-55

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cites work

Podocin localizes in the kidney to the slit diaphragm area

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

LMX1B transactivation and expression in nail-patella syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

Nephrin is specifically located at the slit diaphragm of glomerular podocytes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

Mutation analysis of LMX1B gene in nail-patella syndrome patients

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

A simple salting out procedure for extracting DNA from human nucleated cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

Induction of the LIM homeobox gene Lmx1 by WNT6a establishes dorsoventral pattern in the vertebrate limb

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

Nail-patella syndrome. Overview on clinical and molecular findings

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

Quaternary organization of the goodpasture autoantigen, the alpha 3(IV) collagen chain. Sequestration of two cryptic autoepitopes by intrapromoter interactions with the alpha4 and alpha5 NC1 domains.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

Human tissue distribution of novel basement membrane collagen

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

28 September 2017

DeLIMiting development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

Cosegregation of open-angle glaucoma and the nail-patella syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

Nail-Patella syndrome. Light and electron microscopic studies of the kidney

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

Nail-patella syndrome in a spontaneously aborted 18-week fetus: ultrastructural and immunofluorescent study of the kidneys

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

Congenital nephrotic syndrome in mice lacking CD2-associated protein

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

Dorsal cell fate specified by chick Lmx1 during vertebrate limb development

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868155

HEREDITARY OSTEO-ONYCHO-DYSPLASIA (HOOD)

28 November 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963638-3

Ultrastructure of the Kidney in the Nephropathy of the Nail-Patella Syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963638-3

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963638-3

Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963638-3

Establishment by the rat lymph node method of epitope-defined monoclonal antibodies recognizing the six different alpha chains of human type IV collagen

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963638-3

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963638-3

Glomerular extracellular matrix and growth factors in diffuse mesangial sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963638-3

Nephropathy of nail-patella syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963638-3

A model of autosomal recessive Alport syndrome in English cocker spaniel dogs

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963638-3

Collagen COL4A3 knockout: a mouse model for autosomal Alport syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963638-3

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963638-3

Goodpasture's syndrome in a patient with the Nail-Patella syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963638-3

7 January 2021

inferred from DOI database lookup

Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families

1 reference

12 December 2020

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria

1 reference

12 December 2020

Hereditary onycho-osteodysplasia (Nail-Patella syndrome). A report of nine kindreds

1 reference

12 December 2020

The glomerular basement membrane in the nail-patella syndrome

1 reference

12 December 2020

Renal histopathology of the nail-patella syndrome in a two-year-old boy

1 reference

12 December 2020