Rare inherited kidney diseases: challenges, opportunities, and perspectives (Q34054113)

30 July 2017

title

Rare inherited kidney diseases: challenges, opportunities, and perspectives (English)

1 reference

30 July 2017

1 reference

1

Olivier Devuyst

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Giuseppe Remuzzi

object named as

Giuseppe Remuzzi

3

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author name string

Nine V A M Knoers

2

1 reference

30 July 2017

Franz Schaefer

4

1 reference

30 July 2017

Board of the Working Group for Inherited Kidney Diseases of the European Renal Association and European Dialysis and Transplant Association

5

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30 July 2017

language of work or name

English

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publication date

1 May 2014

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30 July 2017

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30 July 2017

volume

383

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30 July 2017

issue

9931

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30 July 2017

page(s)

1844-1859

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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

30 July 2017

cites work

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Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression

28 July 2018

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Single-cell sequencing-based technologies will revolutionize whole-organism science

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28 July 2018

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Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

28 July 2018

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Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

28 July 2018

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Design of the Nephrotic Syndrome Study Network (NEPTUNE) to evaluate primary glomerular nephropathy by a multidisciplinary approach

28 July 2018

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28 July 2018

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28 July 2018

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Cubilin and amnionless mediate protein reabsorption in Drosophila nephrocytes

28 July 2018

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Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy

28 July 2018

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28 July 2018

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STEC-HUS, atypical HUS and TTP are all diseases of complement activation

28 July 2018

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28 July 2018

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Retake the center stage--new development of rat genetics

28 July 2018

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Adolescent views on transition in diabetes and nephrology.

28 July 2018

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The need for worldwide policy and action plans for rare diseases

28 July 2018

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Inducible podocyte injury and proteinuria in transgenic zebrafish

28 July 2018

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INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

28 July 2018

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V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists

28 July 2018

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Advances in Alport syndrome diagnosis using next-generation sequencing

28 July 2018

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Investigating mechanisms of chronic kidney disease in mouse models

28 July 2018

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Renal involvement in mitochondrial cytopathies

28 July 2018

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The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease.

28 July 2018

1 reference

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Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects

28 July 2018

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CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia

28 July 2018

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CUBN is a gene locus for albuminuria

28 July 2018

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Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

28 July 2018

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Multicentric validation of proteomic biomarkers in urine specific for diabetic nephropathy

28 July 2018

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28 July 2018

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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

28 July 2018

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28 July 2018

Genetic kidney diseases

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Integrative urinary peptidomics in renal transplantation identifies biomarkers for acute rejection

28 July 2018

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28 July 2018

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Intracellular activation of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus by nonpeptide agonists

28 July 2018

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Challenges of translating genetic tests into clinical and public health practice

28 July 2018

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The insect nephrocyte is a podocyte-like cell with a filtration slit diaphragm

28 July 2018

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Why rare diseases are an important medical and social issue

28 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

28 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome

28 July 2018

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High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

Gene expression profiling analysis in nephrology: towards molecular definition of renal disease

28 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

Kidney development and disease in the zebrafish

28 July 2018

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Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants

28 July 2018

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Renal physiology of the mouse

28 July 2018

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A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

28 July 2018

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Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2

28 July 2018

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A common molecular basis for three inherited kidney stone diseases

28 July 2018

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Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

28 July 2018

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Identification of mutations in the COL4A5 collagen gene in Alport syndrome

28 July 2018

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Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

28 July 2018

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28 July 2018

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Providing guidance in the dark: rare renal diseases and the challenge to improve the quality of evidence.

28 October 2018

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MicroRNA-29c in urinary exosome/microvesicle as a biomarker of renal fibrosis

28 October 2018

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Urinary exosomal Wilms' tumor-1 as a potential biomarker for podocyte injury.

28 October 2018

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Whole-rat conditional gene knockout via genome editing

28 October 2018

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Evolving importance of kidney disease: from subspecialty to global health burden

28 October 2018

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Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome

28 October 2018

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Vasopressin/oxytocin-related signaling regulates gustatory associative learning in C. elegans

28 October 2018

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Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies

28 October 2018

1 reference

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Pathogenesis of the C3 glomerulopathies and reclassification of MPGN.

28 October 2018

1 reference

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Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

28 October 2018

1 reference

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Transcutaneous measurement of renal function in conscious mice.

28 October 2018

1 reference

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Next-generation sequencing: ready for the clinics?

28 October 2018

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Mutations in CYP24A1 and idiopathic infantile hypercalcemia

28 October 2018

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Mouse models to study kidney development, function and disease

28 October 2018

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Caenorhabditis elegans, a model organism for kidney research: from cilia to mechanosensation and longevity

28 October 2018

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Patient organizations and research on rare diseases.

28 October 2018

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A cross-national comparative study of orphan drug policies in the United States, the European Union, and Japan: towards a made-in-China orphan drug policy.

28 October 2018

1 reference

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Single photon emission-computed tomography (SPECT) for functional investigation of the proximal tubule in conscious mice

28 October 2018

1 reference

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Successful treatment of the murine model of cystinosis using bone marrow cell transplantation.

28 October 2018

1 reference

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Characterization of PKD protein-positive exosome-like vesicles

28 October 2018

1 reference

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Comprehensive analysis of microRNA expression patterns in renal biopsies of lupus nephritis patients.

28 October 2018

1 reference

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Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

Big biology: The 'omes puzzle

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

28 October 2018

Orphan Kidney Diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

The ERA-EDTA Working Group on inherited kidney disorders

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

Urinary Proteome Analysis to Exclude Severe Vesicoureteral Reflux

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

Evidence of Oligogenic Inheritance in Nephronophthisis

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135047

35 years of Japanese policy on rare diseases

28 October 2018

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https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960659-0

7 January 2021

EUNEFRON, the European Network for the Study of Orphan Nephropathies

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https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960659-0

7 January 2021

Cystic fibrosis is associated with a defect in apical receptor-mediated endocytosis in mouse and human kidney

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7 January 2021

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

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https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960659-0

7 January 2021

Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960659-0

7 January 2021

Studying cilia in zebrafish

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https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960659-0

7 January 2021

Primary hyperoxaluria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960659-0

7 January 2021

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960659-0

7 January 2021

Empowerment of patients: lessons from the rare diseases community

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2814%2960659-0

7 January 2021

10.1016/S0140-6736(14)60659-0

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DOI

1 reference

30 July 2017

1 reference

30 July 2017

1 reference