FAQ

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

Known as: FAD1, FANCD1 
Fanconi anemia caused by mutations of the BRCA2 gene.

Topic mentions per year

Topic mentions per year

1955-2018
012319552017

Related topics

Related topics

13 relations
AnemiaAnus, ImperforateAutosomal recessive inheritanceBRCA2 Protein
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Broader (1)

Fanconi Anemia

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
Anemia
Bone Marrow
Autosomal recessive inheritance
MYELODYSPLASTIC SYNDROME
Fanconi Anemia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
[Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene--Case Report].
Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical… (More)
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2013
2013
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
Current methods for detecting mutations in Fanconi anemia (FA)-suspected patients are inefficient and often miss mutations. We… (More)
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2009
2009
Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction.
Fanconi anemia is a cancer-prone inherited bone marrow failure and cancer susceptibility syndrome with at least 13… (More)
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2008
2008
Genetic subtyping of Fanconi anemia by comprehensive mutation screening.
Fanconi anemia (FA) is a recessively inherited syndrome with predisposition to bone marrow failure and malignancies… (More)
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2006
2006
Tetratricopeptide-motif-mediated interaction of FANCG with recombination proteins XRCC3 and BRCA2.
Fanconi anaemia is an inherited chromosomal instability disorder characterised by cellular sensitivity to DNA interstrand… (More)
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Highly Cited
2004
Highly Cited
2004
Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.
The breast cancer susceptibility gene BRCA2 has recently been identified as identical to the Fanconi anemia (FA) gene FANCD1… (More)
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Highly Cited
2003
Highly Cited
2003
Disruption of the Fanconi anemia–BRCA pathway in cisplatin-sensitive ovarian tumors
Ovarian tumor cells are often genomically unstable and hypersensitive to cisplatin. To understand the molecular basis for this… (More)
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2002
2002
Impaired DNA damage-induced nuclear Rad51 foci formation uniquely characterizes Fanconi anemia group D1
Fanconi anemia is a hereditary cancer susceptibility disorder characterized at the cellular level by spontaneous chromosomal… (More)
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1995
1995
Cloning and characterization of FAD1, the structural gene for flavin adenine dinucleotide synthetase of Saccharomyces cerevisiae.
The FAD1 gene of Saccharomyces cerevisiae has been selected from a genomic library on the basis of its ability to partially… (More)
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1992
1992
Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases.
A genetic locus associated with familial Alzheimer disease (FAD) and a candidate gene, APP, encoding the amyloid protein… (More)
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