FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair (Q34286677)

1 August 2017

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair (English)

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1 August 2017

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interstitial nephritis

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karyomegalic interstitial nephritis

inferred from title

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inferred from title

chronic kidney failure

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1 August 2017

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Agata Smogorzewska

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Sabine Janssen

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Sabine Janssen

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Shawn Levy

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Shawn Levy

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Ferruh Artunc

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Ferruh Artunc

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Hany Soliman

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Holger Moch

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Weibin Zhou

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Andrew Cluckey

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Rannar Airik

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Toby W Hurd

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Moumita Chaki

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Katrina Diaz

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Francis P Lach

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Geoffrey R Bennett

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Heon Yung Gee

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Amiya K Ghosh

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Sivakumar Natarajan

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Supawat Thongthip

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Uma Veturi

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Susan J Allen

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Gokul Ramaswami

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Joanne Dixon

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Felix Burkhalter

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Martin Spoendlin

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Michael J Mihatsch

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Jerome Verine

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Richard Reade

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Michel Godin

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Denes Kiss

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Guido Monga

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Gianna Mazzucco

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Kerstin Amann

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Ronald C Newland

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Thorsten Wiech

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Stefan Zschiedrich

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Tobias B Huber

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Andreas Friedl

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Gisela G Slaats

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Jaap A Joles

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Roel Goldschmeding

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Joseph Washburn

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Rachel H Giles

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Friedhelm Hildebrandt

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language of work or name

English

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publication date

8 July 2012

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1 August 2017

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44

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910-915

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8

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https://scigraph.springernature.com/pub.10.1038/ng.2347

1 August 2017

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cites work

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1 reference

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KIAA1018/FAN1 nuclease protects cells against genomic instability induced by interstrand cross-linking agents

6 July 2018

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

6 July 2018

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FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair

6 July 2018

1 reference

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A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair

6 July 2018

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Deficiency of FANCD2-associated nuclease KIAA1018/FAN1 sensitizes cells to interstrand crosslinking agents

6 July 2018

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Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2

6 July 2018

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Nephrocystin-3 is required for ciliary function in zebrafish embryos

6 July 2018

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Zebrafish have a competent p53-dependent nucleotide excision repair pathway to resolve ultraviolet B-induced DNA damage in the skin

6 July 2018

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The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair

6 July 2018

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Fanconi anemia and its diagnosis

6 July 2018

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A systematic approach to mapping recessive disease genes in individuals from outbred populations

6 July 2018

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6 July 2018

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Genetic and physical interaction between the NPHP5 and NPHP6 gene products

6 July 2018

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

6 July 2018

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The DNA damage signaling pathway connects oncogenic stress to cellular senescence.

6 July 2018

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

6 July 2018

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

6 July 2018

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Knockdown of zebrafish Fancd2 causes developmental abnormalities via p53-dependent apoptosis

6 July 2018

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Hedgehog signalling in the mouse requires intraflagellar transport proteins

6 July 2018

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

6 July 2018

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Prevalence of chronic kidney disease and decreased kidney function in the adult US population: Third National Health and Nutrition Examination Survey

6 July 2018

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6 July 2018

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Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: application to mite sensitization

6 July 2018

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6 July 2018

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6 July 2018

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Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens

6 July 2018

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Systemic karyomegaly associated with chronic interstitial nephritis. A new disease entity?

6 July 2018

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Perinatal micronutrient supplements ameliorate hypertension and proteinuria in adult fawn-hooded hypertensive rats

6 July 2018

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A perinatal nitric oxide donor increases renal vascular resistance and ameliorates hypertension and glomerular injury in adult fawn-hooded hypertensive rats

28 October 2018

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Karyomegalic interstitial nephritis: a pitfall in urine cytology.

28 October 2018

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Karyomegalic interstitial nephritis: further support for a distinct entity and evidence for a genetic defect

28 October 2018

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Extreme dysplasia in renal epithelium of a young woman dying from hepatocarcinoma

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12 December 2020

[Systemic karyomegaly with chronic interstitial nephritis. Discussion of the disease picture based on an autopsy case]

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12 December 2020

Karyomegalic interstitial nephritis

1 reference

12 December 2020

Karyomegalic tubulointerstitial nephritis--a case report

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12 December 2020

[Karyomegalic interstitial nephritis: A new French case]

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12 December 2020

Identifiers

DOI

10.1038/NG.2347

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Dimensions Publication ID

1 August 2017

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1 August 2017

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