Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Distinct developmental outcomes in DNA repair-deficient FANCC c.67delG mutant and FANCC-/- Mice.
Beesetti S et al.
Cell Death and Differentiation, 2025
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Update of the human and mouse Fanconi anemia genes.
Dong H et al.
Human Genomics, 2015
The Fanconi Anemia C Protein Binds to and Regulates Stathmin-1 Phosphorylation.
Magron A et al.
Plos One, 2015
The Fanconi anemia pathway has a dual function in Dickkopf-1 transcriptional repression.
Huard CC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
The Fanconi anemia group C protein interacts with uncoordinated 5A and delays apoptosis.
Huang F et al.
Plos One, 2014
BIK (NBK) is a mediator of the sensitivity of Fanconi anaemia group C lymphoblastoid cell lines to interstrand DNA cross-linking agents.
Prieto-Remón I et al.
The Biochemical Journal, 2012
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
Thompson ER et al.
Plos Genetics, 2012
Cytoplasmic FANCA-FANCC complex interacts and stabilizes the cytoplasm-dislocalized leukemic nucleophosmin protein (NPMc).
Du W et al.
The Journal of Biological Chemistry, 2010
TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells.
Vanderwerf SM et al.
Blood, 2009
Cellular and molecular consequences of defective Fanconi anemia proteins in replication-coupled DNA repair: mechanistic insights.
Thompson LH et al.
Mutation Research, 2009
Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer.
Berwick M et al.
Cancer Research, 2007
The nuclear accumulation of the Fanconi anemia protein FANCE depends on FANCC.
Léveillé F et al.
Dna Repair, 2006
The Fanconi anemia gene network is conserved from zebrafish to human.
Titus TA et al.
Gene, 2006
Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.
Yates J et al.
Human Mutation, 2006
The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR).
Zhang X et al.
The Journal of Biological Chemistry, 2004
Intermediate DNA repair activity associated with the 322delG allele of the fanconi anemia complementation group C gene.
Donahue SL et al.
Journal of Molecular Biology, 2004
The Fanconi anemia gene product FANCF is a flexible adaptor protein.
Léveillé F et al.
The Journal of Biological Chemistry, 2004
Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes.
Levitus M et al.
Blood, 2004
Deficient regulation of DNA double-strand break repair in Fanconi anemia fibroblasts.
Donahue SL et al.
The Journal of Biological Chemistry, 2003
Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems.
Gordon SM et al.
Blood, 2003
Constitutional sequence variation in the Fanconi anaemia group C (FANCC) gene in childhood acute myeloid leukaemia.
Barber LM et al.
British Journal of Haematology, 2003
A 20-year perspective on the International Fanconi Anemia Registry (IFAR).
Kutler DI et al.
Blood, 2003
A DNA double strand break repair defect in Fanconi anemia fibroblasts.
Donahue SL et al.
The Journal of Biological Chemistry, 2002
FANCE: the link between Fanconi anaemia complex assembly and activity.
Pace P et al.
The Embo Journal, 2002
The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality.
Pang Q et al.
Blood, 2001
Functional analysis of patient-derived mutations in the Fanconi anemia gene, FANCG/XRCC9.
Nakanishi K et al.
Experimental Hematology, 2001
Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes.
Yamashita T et al.
International Journal of Hematology, 2001
The emerging genetic and molecular basis of Fanconi anaemia.
Joenje H et al.
Nature Reviews. Genetics, 2001
The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.
de Winter JP et al.
Human Molecular Genetics, 2000
The Fanconi anemia protein FANCC binds to and facilitates the activation of STAT1 by gamma interferon and hematopoietic growth factors.
Pang Q et al.
Molecular and Cellular Biology, 2000
The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients.
Futaki M et al.
Blood, 2000
A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF.
Hoatlin ME et al.
Blood, 1999
Engraftment of hematopoietic progenitor cells transduced with the Fanconi anemia group C gene (FANCC).
Liu JM et al.
Human Gene Therapy, 1999
Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex.
Garcia-Higuera I et al.
Molecular and Cellular Biology, 1999
Fanconi's anemia: what have we learned from the genes so far?
Carreau M et al.
Molecular Medicine Today, 1998
The delta327 mutation in the Fanconi anemia group C gene generates a novel transcript lacking the first two coding exons.
Parker L et al.
Human Mutation, 1998
MxA overexpression reveals a common genetic link in four Fanconi anemia complementation groups.
Li Y et al.
The Journal of Clinical Investigation, 1997
The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex.
Kupfer GM et al.
Nature Genetics, 1997
Disorders of DNA replication and repair.
Auerbach AD et al.
Current Opinion in Pediatrics, 1997