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

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Perinatal Micronutrient Supplements Ameliorate Hypertension and Proteinuria in Adult Fawn-Hooded Hypertensive Rats

(2010) M. P. Koeners et al.   AMERICAN JOURNAL OF HYPERTENSION

Néphrite interstitielle caryomégalique : un nouveau cas français

(2010) Jérôme Verine et al.   ANNALES DE PATHOLOGIE

Identification of KIAA1018/FAN1, a DNA Repair Nuclease Recruited to DNA Damage by Monoubiquitinated FANCD2

(2010) Craig MacKay et al.   CELL

Deficiency of FANCD2-Associated Nuclease KIAA1018/FAN1 Sensitizes Cells to Interstrand Crosslinking Agents

(2010) Katja Kratz et al.   CELL

A Genetic Screen Identifies FAN1, a Fanconi Anemia-Associated Nuclease Necessary for DNA Interstrand Crosslink Repair

(2010) Agata Smogorzewska et al.   MOLECULAR CELL

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

(2010) Edgar A Otto et al.   NATURE GENETICS

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

(2010) K. Yoshikiyo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2010) T. Liu et al.   SCIENCE

Zebrafish Have a Competent p53-Dependent Nucleotide Excision Repair Pathway to Resolve Ultraviolet B–Induced DNA Damage in the Skin

(2010) Zhiqiang Zeng et al.   Zebrafish

Fanconi anemia and its diagnosis

(2009) Arleen D. Auerbach   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

The Fanconi Anemia Pathway Promotes Replication-Dependent DNA Interstrand Cross-Link Repair

(2009) P. Knipscheer et al.   SCIENCE

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

(2009) Friedhelm Hildebrandt et al.   PLoS Genetics

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

(2008) Maarten P. Koeners et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

(2008) Tobias Schäfer et al.   HUMAN MOLECULAR GENETICS

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

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

(2007) Edgar A. Otto et al.   HUMAN MUTATION