| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1050038873 |
| P356 | DOI | 10.1038/NG.2347 |
| P932 | PMC publication ID | 3412140 |
| P698 | PubMed publication ID | 22772369 |
| P5875 | ResearchGate publication ID | 228443895 |
| P50 | author | Sabine Janssen | Q47502676 |
| Ferruh Artunc | Q87907089 | ||
| Holger Moch | Q90210393 | ||
| Hany Soliman | Q110687140 | ||
| Agata Smogorzewska | Q29839145 | ||
| Edgar A. Otto | Q30348357 | ||
| Shawn Levy | Q39444311 | ||
| P2093 | author name string | Friedhelm Hildebrandt | |
| Joseph Washburn | |||
| Susan J Allen | |||
| Weibin Zhou | |||
| Amiya K Ghosh | |||
| Andrew Cluckey | |||
| Gisela G Slaats | |||
| Gokul Ramaswami | |||
| Heon Yung Gee | |||
| Moumita Chaki | |||
| Rachel H Giles | |||
| Rannar Airik | |||
| Sivakumar Natarajan | |||
| Toby W Hurd | |||
| Tobias B Huber | |||
| Francis P Lach | |||
| Kerstin Amann | |||
| Jaap A Joles | |||
| Roel Goldschmeding | |||
| Michael J Mihatsch | |||
| Thorsten Wiech | |||
| Michel Godin | |||
| Andreas Friedl | |||
| Gianna Mazzucco | |||
| Ronald C Newland | |||
| Stefan Zschiedrich | |||
| Joanne Dixon | |||
| Guido Monga | |||
| Jerome Verine | |||
| Felix Burkhalter | |||
| Denes Kiss | |||
| Geoffrey R Bennett | |||
| Katrina Diaz | |||
| Martin Spoendlin | |||
| Richard Reade | |||
| Supawat Thongthip | |||
| Uma Veturi | |||
| P2860 | cites work | A systematic approach to mapping recessive disease genes in individuals from outbred populations | Q21145017 |
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| The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 | Q24336477 | ||
| Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2 | Q24337575 | ||
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| KIAA1018/FAN1 nuclease protects cells against genomic instability induced by interstrand cross-linking agents | Q34152331 | ||
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| The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair | Q41914934 | ||
| Knockdown of zebrafish Fancd2 causes developmental abnormalities via p53-dependent apoptosis | Q41921644 | ||
| Systemic karyomegaly associated with chronic interstitial nephritis. A new disease entity? | Q42096974 | ||
| Perinatal micronutrient supplements ameliorate hypertension and proteinuria in adult fawn-hooded hypertensive rats | Q43111530 | ||
| Prevalence of chronic kidney disease and decreased kidney function in the adult US population: Third National Health and Nutrition Examination Survey | Q44261213 | ||
| Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens | Q44896035 | ||
| P433 | issue | 8 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | kidney failure | Q476921 |
| interstitial nephritis | Q1424106 | ||
| DNA damage | Q5205747 | ||
| chronic kidney failure | Q65464902 | ||
| karyomegalic interstitial nephritis | Q32136929 | ||
| P304 | page(s) | 910-915 | |
| P577 | publication date | 2012-07-08 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair | |
| P478 | volume | 44 |
| Q28115483 | A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination |
| Q39879248 | A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis |
| Q41369694 | A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents |
| Q35221299 | A network-based approach to dissect the cilia/centrosome complex interactome |
| Q42045020 | A new cellular stress response that triggers centriolar satellite reorganization and ciliogenesis |
| Q28507428 | ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis |
| Q28299636 | Advances in understanding the complex mechanisms of DNA interstrand cross-link repair |
| Q90707170 | Case report: a 58 -year -old man with small kidneys and elevated liver enzymes |
| Q34394094 | Causes and consequences of replication stress |
| Q35207826 | Cell cycle arrest and the evolution of chronic kidney disease from acute kidney injury |
| Q26747601 | Ciliogenesis and the DNA damage response: a stressful relationship |
| Q92068732 | Clinical Significance Of Linc00342 Expression In The Peripheral Blood Lymphocytes Of Patients With Chronic Kidney Disease |
| Q38131466 | Contribution of genetics and epigenetics to progression of kidney fibrosis |
| Q90210269 | Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout |
| Q28492645 | Crystal structure of a Fanconi anemia-associated nuclease homolog bound to 5' flap DNA: basis of interstrand cross-link repair by FAN1. |
| Q35143119 | Crystal structure of human Fanconi-associated nuclease 1. |
| Q24311957 | DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling |
| Q53320581 | DNA double-strand breaks induced intractable glomerular fibrosis in renal allografts. |
| Q39039735 | DNA repair in the trinucleotide repeat disorders |
| Q24307525 | DNA repair. Mechanism of DNA interstrand cross-link processing by repair nuclease FAN1 |
| Q36106080 | DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome |
| Q38577654 | Decade in review--genetics of kidney diseases: Genetic dissection of kidney disorders |
| Q26997852 | Diseases associated with defective responses to DNA damage |
| Q34495943 | Endogenous Formaldehyde Is a Hematopoietic Stem Cell Genotoxin and Metabolic Carcinogen. |
| Q30234614 | Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing |
| Q90246026 | Epithelial Cell Cycle Behaviour in the Injured Kidney |
| Q26801593 | Exploiting the Fanconi Anemia Pathway for Targeted Anti-Cancer Therapy |
| Q94464433 | Extensive Inter-Cyst DNA Methylation Variation in Autosomal Dominant Polycystic Kidney Disease Revealed by Genome Scale Sequencing |
| Q24300106 | FAN1 activity on asymmetric repair intermediates is mediated by an atypical monomeric virus-type replication-repair nuclease domain |
| Q42380577 | FAN1 interaction with ubiquitylated PCNA alleviates replication stress and preserves genomic integrity independently of BRCA2 |
| Q57791632 | FAN1 modifies Huntington's disease progression by stabilising the expanded HTT CAG repeat |
| Q89499950 | FAN1 protects against repeat expansions in a Fragile X mouse model |
| Q34487349 | FANCD2-associated nuclease 1, but not exonuclease 1 or flap endonuclease 1, is able to unhook DNA interstrand cross-links in vitro |
| Q38964784 | FANCD2-controlled chromatin access of the Fanconi-associated nuclease FAN1 is crucial for the recovery of stalled replication forks |
| Q36715607 | Fan1 deficiency results in DNA interstrand cross-link repair defects, enhanced tissue karyomegaly, and organ dysfunction |
| Q28283549 | Fanconi anaemia and the repair of Watson and Crick DNA crosslinks |
| Q42151966 | Genetic and physical interactions between the yeast ELG1 gene and orthologs of the Fanconi anemia pathway |
| Q84605705 | Genetics: FAN1 mutations result in defective DNA damage repair and karyomegalic interstitial nephritis |
| Q84630228 | Genome stability, progressive kidney failure and aging |
| Q37162595 | Genomic Integrity Is Favourably Affected by High-Intensity Interval Training in an Animal Model of Early-Stage Chronic Kidney Disease. |
| Q37187170 | Human DNA helicase HELQ participates in DNA interstrand crosslink tolerance with ATR and RAD51 paralogs. |
| Q35617226 | Human FAN1 promotes strand incision in 5'-flapped DNA complexed with RPA. |
| Q52666466 | Importance of homo-dimerization of Fanconi-associated nuclease 1 in DNA flap cleavage. |
| Q47239342 | Insights from human genetic studies of lung and organ fibrosis |
| Q100960868 | Interrupting sequence variants and age of onset in Huntington's disease: clinical implications and emerging therapies |
| Q36993022 | Karyomegalic Interstitial Nephritis: A Case Report and Review of the Literature |
| Q39338268 | Karyomegalic interstitial nephritis and DNA damage-induced polyploidy in Fan1 nuclease-defective knock-in mice |
| Q89945080 | Karyomegalic interstitial nephritis with a novel FAN1 gene mutation and concurrent ALECT2 amyloidosis |
| Q38545689 | Karyomegalic interstitial nephritis with focal segmental glomerulosclerosis: A rare association |
| Q41902339 | Karyomegalic interstitial nephropathy following ifosfamide therapy |
| Q38593910 | LORD-Q: a long-run real-time PCR-based DNA-damage quantification method for nuclear and mitochondrial genome analysis |
| Q41611551 | Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease. |
| Q37658498 | Maintenance of genome stability by Fanconi anemia proteins |
| Q26865523 | Mechanism and regulation of incisions during DNA interstrand cross-link repair |
| Q38341214 | Mechanisms of maladaptive repair after AKI leading to accelerated kidney ageing and CKD. |
| Q38135685 | Mechanisms of vascular calcification in CKD-evidence for premature ageing? |
| Q39476064 | Mouse SLX4 is a tumor suppressor that stimulates the activity of the nuclease XPF-ERCC1 in DNA crosslink repair |
| Q32884490 | Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. |
| Q35129273 | Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features |
| Q57151123 | Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome |
| Q41883398 | NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies |
| Q36205224 | NEK8 regulates DNA damage-induced RAD51 foci formation and replication fork protection |
| Q36598338 | Nek1 kinase associates with ATR-ATRIP and primes ATR for efficient DNA damage signaling |
| Q90570989 | Northern lights assay: a versatile method for comprehensive detection of DNA damage |
| Q39231616 | Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network |
| Q47582220 | Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies |
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| Q90555446 | Proximal tubule ATR regulates DNA repair to prevent maladaptive renal injury responses |
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| Q64886758 | Replication Fork Reversal during DNA Interstrand Crosslink Repair Requires CMG Unloading. |
| Q28069800 | Role of cytogenetic biomarkers in management of chronic kidney disease patients: A review |
| Q93180057 | SLX4IP acts with SLX4 and XPF-ERCC1 to promote interstrand crosslink repair |
| Q30717096 | Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism |
| Q38252562 | Stress and DNA repair biology of the Fanconi anemia pathway |
| Q34453444 | Structural insights into 5' flap DNA unwinding and incision by the human FAN1 dimer |
| Q52689255 | Structural mechanism of DNA interstrand cross-link unhooking by the bacterial FAN1 nuclease. |
| Q58700192 | Structure-specific endonuclease activity of SNM1A enables processing of a DNA interstrand crosslink |
| Q92684874 | Susceptible loci associated with autoimmune disease as potential biomarkers for checkpoint inhibitor-induced immune-related adverse events |
| Q85436008 | The Case. Unusual cause of chronic renal failure with elevated liver enzymes |
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| Q36003176 | The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees |
| Q38125937 | The application of next-generation sequencing in the autozygosity mapping of human recessive diseases |
| Q35499334 | The leukemia-associated Rho guanine nucleotide exchange factor LARG is required for efficient replication stress signaling |
| Q38300405 | The nuclease FAN1 is involved in DNA crosslink repair in Arabidopsis thaliana independently of the nuclease MUS81. |
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