Mechanisms of nephronophthisis and related ciliopathies - sprookjes - yvandenbroek - TriplyDB

Mechanisms of nephronophthisis and related ciliopathies

Mechanisms of nephronophthisis and related ciliopathies

http://www.wikidata.org/entity/Q24634201

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Scrutinizing ciliopathies by unraveling ciliary interaction networks The role of the cilium in normal and abnormal cell cycles: emphasis on renal cystic pathologies MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone Nephronophthisis and related syndromes Disruption of a ciliary B9 protein complex causes Meckel syndrome Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19 SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis.NPHP4 variants are associated with pleiotropic heart malformations.The exocyst and regulatory GTPases in urinary exosomes.Juvenile nephronophthisis and dysthyroidism: a rare association Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients.Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.Mammalian kidney development: principles, progress, and projections Loss of GM3 synthase gene, but not sphingosine kinase 1, is protective against murine nephronophthisis-related polycystic kidney disease.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Genetic background of nonmutant Piebald-Virol-Glaxo rats does not influence nephronophthisis phenotypes.Current insights into renal ciliopathies: what can genetics teach us?Rapidly Progressive Renal Dysfunction in Two Elderly Patients with Renal Enlargement and Medullary Cystic Kidney Disease-like Acute Tubulointerstitial Injury.Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition.Mammalian target of rapamycin and the kidney. II. Pathophysiology and therapeutic implications.Cell polarity and cystic kidney disease.The renal biopsy in the genomic era.The primary cilium: guardian of organ development and homeostasis.Next-generation sequencing for research and diagnostics in kidney disease.Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.Clinical and ultrasonographical characterization of childhood cystic kidney diseases in Egypt.Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis.Nephronophthisis: a genetically diverse ciliopathy Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.Expression profiles of NPHP1 in the germ cells in the semen of men with male factor infertility.Clinical and genetic characteristics of Japanese nephronophthisis patients.A truncating mutation of Alms1 reduces the number of hypothalamic neuronal cilia in obese mice.Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-Løken syndrome?Metabolic Phenotyping of Anks3 Depletion in mIMCD-3 cells - a Putative Nephronophthisis Candidate.Early presentation of cystic kidneys in a family with a homozygousINVSmutation Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy

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Mechanisms of nephronophthisis and related ciliopathies

http://www.wikidata.org/entity/Q24634201

description

2011 nî lūn-bûn

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2011 թուականին հրատարակուած գիտական յօդուած

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2011年の論文

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2011年论文

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name

Mechanisms of nephronophthisis and related ciliopathies

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Mechanisms of nephronophthisis and related ciliopathies

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Mechanisms of nephronophthisis and related ciliopathies

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Mechanisms of nephronophthisis and related ciliopathies

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Mechanisms of nephronophthisis and related ciliopathies

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Mechanisms of nephronophthisis and related ciliopathies

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prefLabel

Mechanisms of nephronophthisis and related ciliopathies

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Mechanisms of nephronophthisis and related ciliopathies

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Mechanisms of nephronophthisis and related ciliopathies

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Nephron Experimental Nephrology

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Mechanisms of nephronophthisis and related ciliopathies

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Toby W Hurd

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P2860

Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation

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

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

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

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

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

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

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

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

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

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e9-14

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scholarly article

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10.1159/000320888

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1

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118

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Friedhelm Hildebrandt

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