(Q36528595)

14 August 2017

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title

Renal cystic diseases: diverse phenotypes converge on the cilium/centrosome complex (English)

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14 August 2017

Lisa M Guay-Woodford

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14 August 2017

language of work or name

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6 July 2006

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14 August 2017

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14 August 2017

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14 August 2017

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14 August 2017

page(s)

1369-1376

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Murine models of polycystic kidney disease: molecular and therapeutic insights

14 August 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS00467-006-0164-9

Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00467-006-0164-9

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

21 January 2018

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12 December 2020

Hypertension in autosomal dominant polycystic kidney disease

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12 December 2020

Genetic heterogeneity in neural tube defects

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12 December 2020

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

1 reference

12 December 2020

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

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12 December 2020

Combined cystic disease of the liver and kidney

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12 December 2020

Hereditary and acquired cystic disease of the kidney

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12 December 2020

A physiological view of the primary cilium

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12 December 2020

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

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12 December 2020

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

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12 December 2020

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

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12 December 2020

PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells

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12 December 2020

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12 December 2020

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12 December 2020

Autosomal Recessive Polycystic Kidney Disease: The Clinical Experience in North America

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12 December 2020

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

1 reference

12 December 2020

Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group

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12 December 2020

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

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12 December 2020

OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

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12 December 2020

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

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12 December 2020

Molecular pathogenesis of ADPKD: the polycystin complex gets complex

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12 December 2020

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

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12 December 2020

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

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12 December 2020

Clinical and genetic epidemiology of inherited renal disease in Newfoundland

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12 December 2020

Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype

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12 December 2020

Polycystic kidney disease

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12 December 2020

Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.

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12 December 2020

The centrosome in human genetic disease

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12 December 2020

The oligogenic properties of Bardet-Biedl syndrome

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12 December 2020

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

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12 December 2020

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology

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12 December 2020

An incredible decade for the primary cilium: a look at a once-forgotten organelle

1 reference

12 December 2020

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

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12 December 2020

The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.

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12 December 2020

Vasopressin antagonists in polycystic kidney disease

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12 December 2020

Intraflagellar transport and cilia-dependent diseases.

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12 December 2020

Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm

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12 December 2020

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

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12 December 2020

A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease

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12 December 2020

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study

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12 December 2020

Linking cilia to Wnts

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12 December 2020

Intraflagellar transport and cilia-dependent renal disease: the ciliary hypothesis of polycystic kidney disease.

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12 December 2020

Identification of the gene for oral-facial-digital type I syndrome

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12 December 2020

Lifting the lid on Pandora's box: the Bardet-Biedl syndrome

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12 December 2020

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

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12 December 2020

Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases

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12 December 2020

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

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12 December 2020

10.1007/S00467-006-0164-9

Identifiers

DOI

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14 August 2017

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