Nephronophthisis (Q84587590)

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8 February 2020

review article

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title

Nephronophthisis (English)

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8 February 2020

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Matthias T F Wolf

1

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8 February 2020

Friedhelm Hildebrandt

series ordinal

2

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8 February 2020

publication date

22 July 2010

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8 February 2020

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8 February 2020

volume

26

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8 February 2020

issue

2

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8 February 2020

page(s)

181-194

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Nephronophthisis: disease mechanisms of a ciliopathy

8 February 2020

cites work

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12 December 2020

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

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12 December 2020

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

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12 December 2020

Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse

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12 December 2020

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

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12 December 2020

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

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12 December 2020

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

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12 December 2020

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

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12 December 2020

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

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12 December 2020

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation

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12 December 2020

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

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12 December 2020

Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia

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12 December 2020

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

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12 December 2020

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression

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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

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease

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12 December 2020

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

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12 December 2020

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

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12 December 2020

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

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12 December 2020

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

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12 December 2020

A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish

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12 December 2020

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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12 December 2020

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

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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

Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease

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12 December 2020

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

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12 December 2020

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

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12 December 2020

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12 December 2020

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

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12 December 2020

Proteomic characterization of the human centrosome by protein correlation profiling

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12 December 2020

Establishing a connection between cilia and 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

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

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12 December 2020

Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities

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12 December 2020

Nephronophthisis (medullary cystic disease of the kidney). A study using electron microscopy, immunofluorescence, and a review of the morphological findings.

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12 December 2020

The nephronophthisis complex. A clinicopathologic study in children

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12 December 2020

Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome)

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12 December 2020

Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders

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12 December 2020

Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?

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12 December 2020

Ultrasound findings in juvenile nephronophthisis

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12 December 2020

Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie

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12 December 2020

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

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12 December 2020

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

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12 December 2020

Nephronophthisis associated with Ellis-van Creveld syndrome

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12 December 2020

Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism

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12 December 2020

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

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12 December 2020

Familial congenital saccade initiation failure and isolated cerebellar vermis hypoplasia

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12 December 2020

Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups

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12 December 2020

[Familial, juvenile nephronophthisis (idiopathic parenchymal contracted kidney).]

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12 December 2020

Hereditary renal dysplasia and blindness

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12 December 2020

Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy

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12 December 2020

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

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12 December 2020

Expression and phenotype analysis of the nephrocystin-1 and nephrocystin-4 homologs in Caenorhabditis elegans

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12 December 2020

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

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12 December 2020

The centrosome in human genetic disease

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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

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12 December 2020

Linking cilia to Wnts

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12 December 2020

The C. elegans homologs of nephrocystin-1 and nephrocystin-4 are cilia transition zone proteins involved in chemosensory perception

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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

Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia

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12 December 2020

Defective planar cell polarity in polycystic kidney disease

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Retinitis pigmentosa and renal failure in a patient with mutations in INVS.

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12 December 2020

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

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12 December 2020

Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults.

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12 December 2020

Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia

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12 December 2020

Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine.

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12 December 2020

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

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12 December 2020

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

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12 December 2020

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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12 December 2020

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

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12 December 2020

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

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12 December 2020

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

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12 December 2020

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

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12 December 2020

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

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12 December 2020

The retinal ciliopathies.

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12 December 2020

Evidence of Oligogenic Inheritance in Nephronophthisis

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12 December 2020

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

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12 December 2020

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

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12 December 2020

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

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12 December 2020

Pkd1 and Nek8 mutations affect cell-cell adhesion and cilia in cysts formed in kidney organ cultures

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12 December 2020

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

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12 December 2020

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

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12 December 2020

Nek8 regulates the expression and localization of polycystin-1 and polycystin-2

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12 December 2020

The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure

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12 December 2020

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

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12 December 2020

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

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12 December 2020

Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct

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12 December 2020

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

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12 December 2020

Restoration of renal function in zebrafish models of ciliopathies

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12 December 2020

Jouberin localizes to collecting ducts and interacts with nephrocystin-1

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12 December 2020

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

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12 December 2020

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

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12 December 2020

10.1007/S00467-010-1585-Z

Identifiers

DOI

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Dimensions Publication ID

8 February 2020

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8 February 2020

PubMed publication ID

20652329

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