Molecular pathogenesis of Fanconi anemia: recent progress

T Taniguchi, AD D'Andrea - Blood, 2006 - ashpublications.org
A rare genetic disease, Fanconi anemia (FA), now attracts broader attention from cancer
biologists and basic researchers in the DNA repair and ubiquitin biology fields as well as …

Fanconi anemia

GC Bagby, BP Alter - Seminars in hematology, 2006 - Elsevier
Fanconi anemia (FA) is a rare hereditary disease characterized by bone marrow failure and
developmental anomalies; a high incidence of myelodysplasia (MDS), acute nonlymphocytic …

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

S Reid, D Schindler, H Hanenberg, K Barker, S Hanks… - Nature …, 2007 - nature.com
PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2
mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood …

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study

BP Alter, N Giri, SA Savage, JA Peters… - British journal of …, 2010 - Wiley Online Library
Fanconi anaemia (FA), dyskeratosis congenita (DC), Diamond‐Blackfan anaemia (DBA),
and Shwachman‐Diamond syndrome (SDS) comprise major inherited bone marrow failure …

BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ

R Litman, M Peng, Z **, F Zhang, J Zhang, S Powell… - Cancer cell, 2005 - cell.com
We showed in this study that cells deficient of the BRCA1-associated BACH1 helicase, also
known as BRIP1, failed to elicit homologous recombination (HR) after DNA double-stranded …

BLAP18/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase–double Holliday junction dissolvasome

TR Singh, AM Ali, V Busygina, S Raynard… - Genes & …, 2008 - genesdev.cshlp.org
Bloom Syndrome is an autosomal recessive cancer-prone disorder caused by mutations in
the BLM gene. BLM encodes a DNA helicase of the RECQ family, and associates with Topo …

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations

M Castella, R Pujol, E Callén, JP Trujillo… - Blood, The Journal …, 2011 - ashpublications.org
Fanconi anemia is characterized by congenital abnormalities, bone marrow failure, and
cancer predisposition. To investigate the origin, functional role, and clinical impact of FANCA …

The FANCJ/MutLα interaction is required for correction of the cross‐link response in FA‐J cells

M Peng, R Litman, J **e, S Sharma, RM Brosh Jr… - The EMBO …, 2007 - embopress.org
FANCJ also called BACH1/BRIP1 was first linked to hereditary breast cancer through its
direct interaction with BRCA1. FANCJ was also recently identified as a Fanconi anemia (FA) …

FAAP100 is essential for activation of the Fanconi anemia‐associated DNA damage response pathway

C Ling, M Ishiai, AM Ali, AL Medhurst, K Neveling… - The EMBO …, 2007 - embopress.org
The Fanconi anemia (FA) core complex plays a central role in the DNA damage response
network involving breast cancer susceptibility gene products, BRCA1 and BRCA2. The …

Overcoming reprogramming resistance of Fanconi anemia cells

LUW Müller, MD Milsom, CE Harris… - Blood, The Journal …, 2012 - ashpublications.org
Fanconi anemia (FA) is a recessive syndrome characterized by progressive fatal BM failure
and chromosomal instability. FA cells have inactivating mutations in a signaling pathway that …