Kidney disease in nail-patella syndrome (Q37184178)

18 August 2017

6 references

12 March 2019

13 March 2019

22 April 2019

17 June 2019

29 May 2020

6 July 2020

Kidney disease in nail-patella syndrome (English)

1 reference

18 August 2017

6 references

12 March 2019

13 March 2019

22 April 2019

17 June 2019

29 May 2020

6 July 2020

nail-patella syndrome

6 references

12 March 2019

13 March 2019

22 April 2019

17 June 2019

29 May 2020

6 July 2020

Kevin V Lemley

1

1 reference

18 August 2017

6 June 2008

1 reference

PMCID

2770138

18 August 2017

1 December 2009

6 references

12 March 2019

13 March 2019

22 April 2019

17 June 2019

29 May 2020

6 July 2020

6 references

18 August 2017

12 March 2019

13 March 2019

22 April 2019

17 June 2019

6 July 2020

24

1 reference

18 August 2017

12

1 reference

18 August 2017

2345-2354

1 reference

https://scigraph.springernature.com/pub.10.1007/s00467-008-0836-8

18 August 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Skeletal integrity in patients with nail patella syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

The human LMX1B gene: transcription unit, promoter, and pathogenic mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Genetical linkage between the ABO and nail-patella loci

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Nail-patella syndrome. Overview on clinical and molecular findings

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

LMX1B transactivation and expression in nail-patella syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Mutation analysis of LMX1B gene in nail-patella syndrome patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Collagen type III glomerulopathy: a new type of hereditary nephropathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Structural basis for reduced glomerular filtration capacity in nephrotic humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Linkage of the loci for the nail-patella syndrome and adenylate kinase

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Longitudinal studies on the rate of decline in renal function with age.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

The Effect of Age on Creatinine Clearance in Men: A Cross-sectional and Longitudinal Study

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

The podocyte-specific inactivation of Lmx1b, Ldb1 and E2a yields new insight into a transcriptional network in podocytes.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Cyclosporin therapy in patients with Alport syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Nail patella syndrome revisited: 50 years after linkage.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Nail-patella glomerulopathy without associated constitutional abnormalities.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Nail-patella syndrome: evidence for modification by alleles at the main locus.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Standardizing mutation nomenclature: why bother?

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770138

Microalbuminuria as a predictor of clinical nephropathy in insulin-dependent diabetes mellitus

3 September 2018

1 reference

12 December 2020

Bilateral renal stones associated with nail-patella syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns

1 reference

12 December 2020

Early detection of patients at risk of developing diabetic nephropathy. A longitudinal study of urinary albumin excretion

1 reference

12 December 2020

Long-term effects of cyclosporine A in Alport's syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Nail-patella syndrome and pre-eclampsia

1 reference

12 December 2020

Prenatal diagnosis of nail-patella syndrome

1 reference

12 December 2020

Randomised placebo-controlled trial of effect of ramipril on decline in glomerular filtration rate and risk of terminal renal failure in proteinuric, non-diabetic nephropathy. The GISEN Group (Gruppo Italiano di Studi Epidemiologici in Nefrologia)

1 reference

12 December 2020

The use of plasma creatinine concentration for estimating glomerular filtration rate in infants, children, and adolescents

1 reference

12 December 2020

Functional characterization of LMX1B mutations associated with nail-patella syndrome

1 reference

12 December 2020

10.1007/S00467-008-0836-8

Identifiers

DOI

1 reference

18 August 2017

1 reference

18 August 2017

1 reference

PMCID

2770138