Jouberin localizes to collecting ducts and interacts with nephrocystin-1 (Q24314517)

GOA release 2020-03-11

author

Friedhelm Hildebrandt

5

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author name string

Lorraine Eley

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Christos Gabrielides

2

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Matthew Adams

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Colin A Johnson

4

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John A Sayer

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

6

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language of work or name

English

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publication date

November 2008

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published in

Kidney International

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volume

74

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issue

9

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page(s)

1139-49

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cites work

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Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation

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

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Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

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Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity

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Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

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Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis

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

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

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Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia

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A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints

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

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7 January 2021

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

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Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells

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

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Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

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7 January 2021

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Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

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Distinct ligand preferences of Src homology 3 domains from Src, Yes, Abl, Cortactin, p53bp2, PLCgamma, Crk, and Grb2.

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A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

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

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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

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

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

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Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity

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Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2

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Wnt4 inhibits beta-catenin/TCF signalling by redirecting beta-catenin to the cell membrane

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Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle

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The clinical utility of renal concentrating capacity in polycystic kidney disease.

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Adult polycystic kidney disease: Studies of the defect in urine concentration

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Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist

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Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease

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Therapies to slow polycystic kidney disease

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