(Q37585088)

21 August 2017

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title

Inherited cerebrorenal syndromes (English)

1 reference

21 August 2017

Scott J Schurman

1

1 reference

PubMed ID

19701229

21 August 2017

Steven J Scheinman

series ordinal

2

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PubMed ID

19701229

21 August 2017

language of work or name

English

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publication date

1 September 2009

1 reference

Nature Reviews Nephrology

21 August 2017

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21 August 2017

5

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21 August 2017

529-538

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21 August 2017

9

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https://scigraph.springernature.com/pub.10.1038/nrneph.2009.124

21 August 2017

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cites work

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Urographic findings in the Bardet-Biedl syndrome, formerly the Laurence-Moon-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

In utero detection of fetal cataracts

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Glaucoma with the oculocerebrorenal syndrome of Lowe

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Fanconi or not Fanconi? Lowe syndrome revisited

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Early proximal tubular dysfunction in Lowe's syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Lysosomal enzymuria is a feature of hereditary Fanconi syndrome and is related to elevated CI-mannose-6-P-receptor excretion.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Glomerular protein sieving and implications for renal failure in Fanconi syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Eruptive vellus hair cysts in a patient with Lowe syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Arthropathy of Lowe's (oculocerebrorenal) syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Structure and function of the Lowe syndrome protein OCRL1.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Nephronophthisis-associated ciliopathies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Bardet-Biedl syndrome: beyond the cilium.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Cilia and Hedgehog responsiveness in the mouse

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Wnt/beta-catenin/Tcf signaling induces the transcription of Axin2, a negative regulator of the signaling pathway

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

31 March 2020

Linking cilia to Wnts

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Molecular pathogenesis of ADPKD: the polycystin complex gets complex

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Genotypes and phenotypes of Joubert syndrome and related disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Joubert syndrome (and related disorders) (OMIM 213300).

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Clinical features and revised diagnostic criteria in Joubert syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Joubert syndrome: monozygotic twins with discordant phenotypes.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Follow-up in children with Joubert syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Oromotor and communication findings in joubert syndrome: further evidence of multisystem apraxia.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Rate of deterioration of renal function in juvenile nephronophthisis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Genetic complexity in Joubert syndrome and related disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Energy metabolism in Bardet–Biedl syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Antenatal renal sonographic anomalies and postnatal follow-up of renal involvement in Bardet-Biedl syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

The Spectrum of Renal Disease in Laurence–Moon–Biedl Syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

31 March 2020

Intraflagellar transport

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Cilia: tuning in to the cell's antenna.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Hereditary renal dysplasia and blindness

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: Insights from molecular screening

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2009.124

Congenital ocular motor apraxia: imaging findings.

31 March 2020

1 reference

12 December 2020

Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity

1 reference

12 December 2020

Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndrome

1 reference

12 December 2020

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

1 reference

12 December 2020

Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis

1 reference

12 December 2020

Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis

1 reference

12 December 2020

The oculocerebrorenal syndrome of Lowe

1 reference

12 December 2020

Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome.

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRNEPH.2009.124

1 reference

21 August 2017

1 reference

PubMed ID

19701229