(Q34286677)

1 August 2017

title

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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2

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1 August 2017

43

Agata Smogorzewska

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Sabine Janssen

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Sabine Janssen

16

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Shawn Levy

object named as

Shawn Levy

42

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Ferruh Artunc

31

object named as

Ferruh Artunc

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25

Hany Soliman

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21

Holger Moch

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Weibin Zhou

1

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Andrew Cluckey

3

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Rannar Airik

4

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Toby W Hurd

5

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Moumita Chaki

6

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Katrina Diaz

7

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Francis P Lach

8

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Geoffrey R Bennett

9

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Heon Yung Gee

10

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Amiya K Ghosh

11

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Sivakumar Natarajan

12

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Supawat Thongthip

13

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Uma Veturi

14

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Susan J Allen

15

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Gokul Ramaswami

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Joanne Dixon

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Felix Burkhalter

19

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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

26

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Denes Kiss

27

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Guido Monga

28

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Gianna Mazzucco

29

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Kerstin Amann

30

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Ronald C Newland

32

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Thorsten Wiech

33

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Stefan Zschiedrich

34

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Tobias B Huber

35

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1 August 2017

Andreas Friedl

36

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Gisela G Slaats

37

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Jaap A Joles

38

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Roel Goldschmeding

39

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Joseph Washburn

40

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Rachel H Giles

41

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Friedhelm Hildebrandt

44

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1 August 2017

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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1 August 2017

volume

44

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1 August 2017

issue

8

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1 August 2017

page(s)

910-915

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Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

FAN1 Acts with FANCI-FANCD2 to Promote DNA Interstrand Cross-Link Repair

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

Nephrocystin-3 is required for ciliary function in zebrafish embryos

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

Fanconi anemia and its diagnosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

Accurate whole human genome sequencing using reversible terminator chemistry

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

Hedgehog signalling in the mouse requires intraflagellar transport proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

Allegro, a new computer program for multipoint linkage analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

Parametric and nonparametric linkage analysis: a unified multipoint approach

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

Karyomegalic interstitial nephritis: a pitfall in urine cytology.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412140

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

28 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Karyomegalic interstitial nephritis

1 reference

12 December 2020

Karyomegalic tubulointerstitial nephritis--a case report

1 reference

12 December 2020

[Karyomegalic interstitial nephritis: A new French case]

1 reference

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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