Details of Disease

Disease Name

Fanconi anemia complementation group A

Fanconi Anemia, Estren-Dameshek variant; Fanconi anemia, complementation group A; Estren-Dameshek variant of Fanconi Anaemia; Estren-Dameshek variant of Fanconi Anemia; Estren-Dameshek variant of Fanconi pancytopenia; Fanconi Anemia; Fanconi Anaemia; FANCA; Fanconi Anemia, complementation group type a; FANCA Fanconi anaemia; Fanconi anemia caused by mutation in FANCA; Fanconi anaemia caused by mutation in FANCA; Fanconi anaemia complementation group type A; FANCA Fanconi anemia; Fanconi anemia complementation group A; Fanconi anemia complementation group type A

Definition

Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.

Disease Hierarchy

DIS5M94B: Non-syndromic limb reduction defect

DISGW6Q8: Fanconi's anemia

DIS8PZLI: Fanconi anemia complementation group A

Disease Identifiers

MONDO ID

MONDO_0009215

UMLS CUI

C3469521

OMIM ID

227650

MedGen ID

483333

General Information of Disease (ID: DIS8PZLI)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 28 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATR	TT8ZYBQ	Limited	Posttranslational Modification	[1]
CHEK1	TTTU902	Limited	Biomarker	[2]
DLK1	TTF4AVB	Limited	Biomarker	[3]
FANCF	TTNZKFJ	Limited	Genetic Variation	[4]
RAD51	TTC0G1L	Limited	Genetic Variation	[5]
CD34	TTZAVYN	Disputed	Biomarker	[6]
ALDH2	TTFLN4T	Strong	Genetic Variation	[7]
BACH1	TT2ME4S	Strong	Biomarker	[8]
CENPE	TTZD5QR	Strong	Biomarker	[9]
GGH	TTZJRL0	Strong	Biomarker	[10]
GLRX	TTRJCNG	Strong	Biomarker	[11]
GPR132	TTNBW4F	Strong	Biomarker	[12]
IL3RA	TTENHJ0	Strong	Biomarker	[13]
INHBA	TTVB30D	Strong	Altered Expression	[14]
KITLG	TTDJ51N	Strong	Biomarker	[15]
MAPKAPK2	TTMUG9D	Strong	Biomarker	[16]
MCM6	TTQGKSD	Strong	Biomarker	[17]
MYH2	TTBIL13	Strong	Altered Expression	[18]
NPM1	TTHBS98	Strong	Biomarker	[19]
PMS1	TTX1ISF	Strong	Biomarker	[20]
PRTN3	TT5MLC4	Strong	Biomarker	[21]
SCT	TTOBVIN	Strong	Genetic Variation	[22]
SLC1A3	TT8WRDA	Strong	Altered Expression	[23]
SPTBN1	TTS9BDA	Strong	Genetic Variation	[24]
TP53BP1	TTX4UE9	Strong	Biomarker	[25]
UBE2T	TT0A1R8	Strong	Genetic Variation	[10]
USP1	TTG9MT5	Strong	Biomarker	[26]
FANCA	TTV5HJS	Definitive	Autosomal recessive	[27]
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⏷ Show the Full List of 28 DTT(s)

This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ADH5	DEIOH6A	Strong	Biomarker	[28]
HPRT1	DEVXTP5	Strong	Genetic Variation	[29]
ME1	DE97WM8	Strong	Biomarker	[2]
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This Disease Is Related to 97 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FAAP20	OTDI1MIV	Limited	Biomarker	[30]
FAH	OTGZA1YR	Limited	Altered Expression	[31]
FANCB	OTMZTXB5	Limited	Biomarker	[32]
FANCI	OTW8E3SC	Limited	Biomarker	[33]
FANCL	OTJC7QPQ	Limited	Genetic Variation	[34]
PALB2	OT6DNDBG	Limited	Biomarker	[35]
RAD51C	OTUD6SY5	Limited	Biomarker	[36]
RNF8	OTRR43PZ	Limited	Biomarker	[37]
RPS19	OTBKGP48	Limited	Genetic Variation	[38]
SLX4	OTF6236I	Limited	Biomarker	[39]
SNU13	OTH56TIH	Limited	Biomarker	[3]
BLM	OTEJOAJX	Disputed	Biomarker	[40]
RECQL4	OT59LSW7	moderate	Genetic Variation	[41]
ANXA7	OTLMD0TK	Strong	Biomarker	[42]
ATAD5	OTI8ABKF	Strong	Biomarker	[43]
BABAM1	OTCFPER6	Strong	Biomarker	[44]
BCL2L12	OTS6IFZY	Strong	Biomarker	[45]
BMF	OT90NSLI	Strong	Biomarker	[46]
BRAP	OTB7BAFQ	Strong	Genetic Variation	[47]
BRCA1	OT5BN6VH	Strong	Autosomal recessive	[48]
BRMS1	OTV5A6LL	Strong	Biomarker	[33]
CBLL2	OTB4AD3V	Strong	Biomarker	[49]
CD48	OT83ZNPP	Strong	Biomarker	[50]
CDK10	OTKP7TTR	Strong	Genetic Variation	[51]
CENPX	OTG1RAKJ	Strong	Biomarker	[52]
CHMP1A	OTVQ5UWX	Strong	Genetic Variation	[51]
COL11A2	OT3BQUBH	Strong	Biomarker	[53]
COX4I1	OTU0FC24	Strong	Genetic Variation	[54]
CPNE3	OTCR3WG2	Strong	Altered Expression	[55]
CT55	OTQC0H27	Strong	Biomarker	[56]
CTBP1	OTVYH2DH	Strong	Altered Expression	[57]
CUL4B	OT2QX4DO	Strong	Biomarker	[58]
DCLRE1A	OT68PVSD	Strong	Biomarker	[59]
DCLRE1B	OT2LFW7A	Strong	Biomarker	[60]
DDX11	OT1WR3MD	Strong	Biomarker	[61]
DNA2	OT4DJFFU	Strong	Biomarker	[62]
DONSON	OTN5HE0W	Strong	Genetic Variation	[63]
EFCAB6	OT5G7GKB	Strong	Genetic Variation	[64]
ELOVL6	OTB26UJJ	Strong	Genetic Variation	[65]
EXO1	OTI87RS5	Strong	Biomarker	[59]
FAAP100	OT7VJXAT	Strong	Biomarker	[66]
FAAP24	OTW6CO2I	Strong	Biomarker	[67]
FAM120B	OTGYUFOJ	Strong	Genetic Variation	[68]
FANCE	OTKRPBW1	Strong	Biomarker	[69]
GABRB1	OT4L2SSB	Strong	Altered Expression	[70]
GABRG1	OT1NGUYY	Strong	Biomarker	[71]
GINS2	OT974IYI	Strong	Biomarker	[72]
GOLGA4	OTCMEHNJ	Strong	Altered Expression	[73]
GYPA	OTABU4YV	Strong	Genetic Variation	[74]
GYPB	OTESHUIX	Strong	Genetic Variation	[75]
GYPE	OTBHAG6A	Strong	Genetic Variation	[75]
H2AX	OT18UX57	Strong	Biomarker	[76]
IL17RB	OT0KDNSF	Strong	Biomarker	[58]
IL3	OT0CQ35N	Strong	Biomarker	[13]
IMMT	OTBDSLE7	Strong	Biomarker	[77]
KAT5	OTL7257A	Strong	Biomarker	[78]
MAD2L2	OT24ZO59	Strong	Altered Expression	[25]
MCM10	OTV0O3JN	Strong	Biomarker	[17]
MEF2C	OTZGF1Y5	Strong	Altered Expression	[18]
MKS1	OT83W5PB	Strong	Biomarker	[2]
MRE11	OTGU8TZM	Strong	Biomarker	[79]
MUL1	OT2JC9YR	Strong	Biomarker	[49]
MYH4	OT4657W4	Strong	Altered Expression	[18]
NBN	OT73B5MD	Strong	Biomarker	[79]
NEIL1	OTHBU5DJ	Strong	Altered Expression	[80]
NLN	OTFRITPU	Strong	Biomarker	[81]
NLRP2	OTJA81JU	Strong	Biomarker	[79]
OPN4	OT1LZ7TS	Strong	Biomarker	[81]
PARPBP	OTPZDGW7	Strong	Biomarker	[82]
PHF1	OTW2PSIR	Strong	Genetic Variation	[83]
PMS2	OTNLWTMI	Strong	Biomarker	[84]
POLD1	OTWO4UCJ	Strong	Altered Expression	[85]
PRDX6	OTS8KC8A	Strong	Biomarker	[21]
PRKN	OTJBN41W	Strong	Biomarker	[49]
PSMA7	OTPHI6ST	Strong	Genetic Variation	[86]
PSPH	OTV1PVAX	Strong	Altered Expression	[87]
RAD18	OTQ9PLNT	Strong	Altered Expression	[88]
RAD50	OTYMU9G1	Strong	Biomarker	[79]
RAD51D	OTKOU5XN	Strong	Genetic Variation	[89]
RAD52	OT0OTDHI	Strong	Biomarker	[90]
RBBP8	OTRHJ3GI	Strong	Biomarker	[91]
REV1	OTHIKICX	Strong	Biomarker	[92]
REV3L	OT0OP8EJ	Strong	Genetic Variation	[93]
RFWD3	OTDUULBQ	Strong	Genetic Variation	[94]
RNF168	OT6AZXX8	Strong	Biomarker	[95]
RNF4	OTCMXQRE	Strong	Biomarker	[96]
ROMO1	OTIEYVBW	Strong	Altered Expression	[97]
SETBP1	OTKGCOSR	Strong	Genetic Variation	[98]
SNX5	OT6ZOWMU	Strong	Biomarker	[42]
SPTA1	OT1YMP65	Strong	Altered Expression	[99]
SPTAN1	OT6VY3A3	Strong	Biomarker	[100]
SYF2	OTY2ZW1H	Strong	Biomarker	[21]
TELO2	OT2YQ9L8	Strong	Biomarker	[101]
TIGAR	OTR7NMRJ	Strong	Biomarker	[102]
TIMM8A	OTDX9687	Strong	Biomarker	[103]
FANCA	OTPEFJD4	Definitive	Autosomal recessive	[27]
FANCC	OTTIDM3P	Definitive	Biomarker	[104]
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⏷ Show the Full List of 97 DOT(s)

References

1	FANCI Regulates Recruitment of the FA Core Complex at Sites of DNA Damage Independently of FANCD2.PLoS Genet. 2015 Oct 2;11(10):e1005563. doi: 10.1371/journal.pgen.1005563. eCollection 2015 Oct.
2	Suppression of the FA pathway combined with CHK1 inhibitor hypersensitize lung cancer cells to gemcitabine.Sci Rep. 2017 Nov 8;7(1):15031. doi: 10.1038/s41598-017-15172-4.
3	Parallel genome-wide screens identify synthetic viable interactions between the BLM helicase complex and Fanconi anemia.Nat Commun. 2017 Nov 1;8(1):1238. doi: 10.1038/s41467-017-01439-x.
4	A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report.BMC Med Genet. 2019 Jul 9;20(1):122. doi: 10.1186/s12881-019-0855-2.
5	A Japanese patient with RAD51-associated Fanconi anemia.Am J Med Genet A. 2019 Jun;179(6):900-902. doi: 10.1002/ajmg.a.61130. Epub 2019 Mar 25.
6	Novel lineage depletion preserves autologous blood stem cells for gene therapy of Fanconi anemia complementation group A.Haematologica. 2018 Nov;103(11):1806-1814. doi: 10.3324/haematol.2018.194571. Epub 2018 Jul 5.
7	Associations of complementation group, ALDH2 genotype, and clonal abnormalities with hematological outcome in Japanese patients with Fanconi anemia.Ann Hematol. 2019 Feb;98(2):271-280. doi: 10.1007/s00277-018-3517-0. Epub 2018 Oct 27.
8	FANCJ helicase operates in the Fanconi Anemia DNA repair pathway and the response to replicational stress. Curr Mol Med. 2009 May;9(4):470-82.
9	Identification of FANCA as a protein interacting with centromere-associated protein E.Acta Biochim Biophys Sin (Shanghai). 2009 Oct;41(10):816-21. doi: 10.1093/abbs/gmp074.
10	Deficiency of the Fanconi anemia E2 ubiqitin conjugase UBE2T only partially abrogates Alu-mediated recombination in a new model of homology dependent recombination.Nucleic Acids Res. 2019 Apr 23;47(7):3503-3520. doi: 10.1093/nar/gkz026.
11	Microarray mRNA expression analysis of Fanconi anemia fibroblasts.Cytogenet Genome Res. 2008;121(1):10-3. doi: 10.1159/000124375. Epub 2008 May 7.
12	Flow cytometry for diepoxybutane test analysis.Genet Mol Res. 2008;7(4):1353-9. doi: 10.4238/vol7-4gmr510.
13	Overexpression of IL-3R on CD34+CD38- stem cells defines leukemia-initiating cells in Fanconi anemia AML.Blood. 2011 Apr 21;117(16):4243-52. doi: 10.1182/blood-2010-09-309179. Epub 2011 Feb 17.
14	Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity.Blood. 1996 May 15;87(10):4424-32.
15	Transduction of CD34-enriched human peripheral and umbilical cord blood progenitors using a retroviral vector with the Fanconi anemia group C gene.J Investig Med. 1995 Aug;43(4):379-85.
16	p38 MAPK inhibition suppresses the TLR-hypersensitive phenotype in FANCC- and FANCA-deficient mononuclear phagocytes.Blood. 2012 Mar 1;119(9):1992-2002. doi: 10.1182/blood-2011-06-354647. Epub 2012 Jan 10.
17	Tumor treating fields cause replication stress and interfere with DNA replication fork maintenance: Implications for cancer therapy.Transl Res. 2020 Mar;217:33-46. doi: 10.1016/j.trsl.2019.10.003. Epub 2019 Oct 21.
18	Ferulic acid regulates muscle fiber type formation through the Sirt1/AMPK signaling pathway.Food Funct. 2019 Jan 22;10(1):259-265. doi: 10.1039/c8fo01902a.
19	Cytoplasmic FANCA-FANCC complex interacts and stabilizes the cytoplasm-dislocalized leukemic nucleophosmin protein (NPMc).J Biol Chem. 2010 Nov 26;285(48):37436-44. doi: 10.1074/jbc.M110.113209. Epub 2010 Sep 23.
20	Hereditary breast and ovarian cancer susceptibility genes (review).Oncol Rep. 2013 Sep;30(3):1019-29. doi: 10.3892/or.2013.2541. Epub 2013 Jun 19.
21	Disruption of murine mp29/Syf2/Ntc31 gene results in embryonic lethality with aberrant checkpoint response.PLoS One. 2012;7(3):e33538. doi: 10.1371/journal.pone.0033538. Epub 2012 Mar 20.
22	Increased apoptosis is linked to severe acute GVHD in patients with Fanconi anemia.Bone Marrow Transplant. 2013 Jun;48(6):849-53. doi: 10.1038/bmt.2012.237. Epub 2012 Dec 10.
23	Focal adhesion molecules regulate astrocyte morphology and glutamate transporters to suppress seizure-like behavior.Proc Natl Acad Sci U S A. 2018 Oct 30;115(44):11316-11321. doi: 10.1073/pnas.1800830115. Epub 2018 Oct 16.
24	Normal and cancer-prone human cells respond differently to extremely low frequency magnetic fields.FEBS Lett. 2001 Jan 5;487(3):397-403. doi: 10.1016/s0014-5793(00)02376-0.
25	Biallelic inactivation of REV7 is associated with Fanconi anemia. J Clin Invest. 2016 Sep 1;126(9):3580-4. doi: 10.1172/JCI88010. Epub 2016 Aug 8.
26	Blockade of Deubiquitylating Enzyme USP1 Inhibits DNA Repair and Triggers Apoptosis in Multiple Myeloma Cells.Clin Cancer Res. 2017 Aug 1;23(15):4280-4289. doi: 10.1158/1078-0432.CCR-16-2692. Epub 2017 Mar 7.
27	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
28	Genotoxicity of tetrahydrofolic acid to hematopoietic stem and progenitor cells.Cell Death Differ. 2018 Nov;25(11):1967-1979. doi: 10.1038/s41418-018-0089-4. Epub 2018 Mar 6.
29	Molecular spectra of HPRT deletion mutations in circulating T-lymphocytes in Fanconi anemia patients.Mutat Res. 1999 Dec 17;431(2):341-50. doi: 10.1016/s0027-5107(99)00177-3.
30	Prolyl isomerization of FAAP20 catalyzed by PIN1 regulates the Fanconi anemia pathway.PLoS Genet. 2019 Feb 21;15(2):e1007983. doi: 10.1371/journal.pgen.1007983. eCollection 2019 Feb.
31	Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome.Am J Med Genet. 1999 Apr 23;83(5):388-91. doi: 10.1002/(sici)1096-8628(19990423)83:5<388::aid-ajmg9>3.0.co;2-1.
32	Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.Mol Genet Genomic Med. 2018 Jan;6(1):77-91. doi: 10.1002/mgg3.350. Epub 2017 Nov 30.
33	BRMS1 participates in regulating cell sensitivity to DNA interstrand crosslink damage by interacting with FANCI.Oncol Rep. 2019 Jan;41(1):552-558. doi: 10.3892/or.2018.6816. Epub 2018 Oct 24.
34	A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.Hum Mutat. 2020 Jan;41(1):122-128. doi: 10.1002/humu.23914. Epub 2019 Sep 26.
35	Novel RNA and DNA strand exchange activity of the PALB2 DNA binding domain and its critical role for DNA repair in cells.Elife. 2019 Apr 29;8:e44063. doi: 10.7554/eLife.44063.
36	A phthalimidoalkanamide derived novel DNMT inhibitor enhanced radiosensitivity of A549 cells by inhibition of homologous recombination of DNA damage.Invest New Drugs. 2019 Dec;37(6):1158-1165. doi: 10.1007/s10637-019-00730-6. Epub 2019 Feb 22.
37	Coordination of the recruitment of the FANCD2 and PALB2 Fanconi anemia proteins by an ubiquitin signaling network.Chromosoma. 2017 Jun;126(3):417-430. doi: 10.1007/s00412-016-0602-9. Epub 2016 Jun 8.
38	Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.Pediatr Blood Cancer. 2018 Jan;65(1):10.1002/pbc.26757. doi: 10.1002/pbc.26757. Epub 2017 Aug 12.
39	Upregulated LINE-1 Activity in the Fanconi Anemia Cancer Susceptibility Syndrome Leads to Spontaneous Pro-inflammatory Cytokine Production.EBioMedicine. 2016 Jun;8:184-194. doi: 10.1016/j.ebiom.2016.05.005. Epub 2016 May 6.
40	The FANCM-BLM-TOP3A-RMI complex suppresses alternative lengthening of telomeres (ALT).Nat Commun. 2019 May 28;10(1):2252. doi: 10.1038/s41467-019-10180-6.
41	Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.Mod Pathol. 2018 Dec;31(12):1787-1800. doi: 10.1038/s41379-018-0103-x. Epub 2018 Jul 4.
42	SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein.Biochem Biophys Res Commun. 1999 Nov 30;265(3):630-5. doi: 10.1006/bbrc.1999.1731.
43	Elg1, a central player in genome stability.Mutat Res Rev Mutat Res. 2015 Jan-Mar;763:267-79. doi: 10.1016/j.mrrev.2014.11.007. Epub 2014 Nov 24.
44	MERIT40 cooperates with BRCA2 to resolve DNA interstrand cross-links.Genes Dev. 2015 Sep 15;29(18):1955-68. doi: 10.1101/gad.264192.115. Epub 2015 Sep 3.
45	Bcl2L12 plays a critical role in the development of intestinal allergy.Immunol Lett. 2018 Nov;203:87-94. doi: 10.1016/j.imlet.2018.09.001. Epub 2018 Sep 5.
46	Hematopoietic cell transplantation in Fanconi anemia: current evidence, challenges and recommendations.Expert Rev Hematol. 2017 Jan;10(1):81-97. doi: 10.1080/17474086.2016.1268048. Epub 2016 Dec 21.
47	Screening for large genomic rearrangements of the BRIP1 and CHK1 genes in Finnish breast cancer families.Fam Cancer. 2010 Dec;9(4):537-40. doi: 10.1007/s10689-010-9360-7.
48	Fanconi Anaemia, Childhood Cancer and the BRCA Genes. Genes (Basel). 2021 Sep 27;12(10):1520. doi: 10.3390/genes12101520.
49	High expression of UBE2T predicts poor prognosis and survival in multiple myeloma.Cancer Gene Ther. 2019 Nov;26(11-12):347-355. doi: 10.1038/s41417-018-0070-x. Epub 2019 Jan 9.
50	Evolutionary clues to the molecular function of fanconi anemia genes.Acta Haematol. 2002;108(4):231-6. doi: 10.1159/000065659.
51	Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer.Genomics. 1998 May 15;50(1):1-8. doi: 10.1006/geno.1998.5316.
52	MHF1-MHF2, a histone-fold-containing protein complex, participates in the Fanconi anemia pathway via FANCM.Mol Cell. 2010 Mar 26;37(6):879-86. doi: 10.1016/j.molcel.2010.01.036.
53	Veliparib Alone or in Combination with Mitomycin C in Patients with Solid Tumors With Functional Deficiency in Homologous Recombination Repair.J Natl Cancer Inst. 2016 Feb 4;108(7):djv437. doi: 10.1093/jnci/djv437. Print 2016 Jul.
54	Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures. Am J Med Genet A. 2019 Oct;179(10):2138-2143. doi: 10.1002/ajmg.a.61288. Epub 2019 Jul 10.
55	CPNE3 promotes migration and invasion in non-small cell lung cancer by interacting with RACK1 via FAK signaling activation.J Cancer. 2018 Oct 20;9(22):4215-4222. doi: 10.7150/jca.25872. eCollection 2018.
56	Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.Nat Genet. 2007 Feb;39(2):159-61. doi: 10.1038/ng1942. Epub 2006 Dec 31.
57	The Fanconi anemia pathway has a dual function in Dickkopf-1 transcriptional repression.Proc Natl Acad Sci U S A. 2014 Feb 11;111(6):2152-7. doi: 10.1073/pnas.1314226111. Epub 2014 Jan 27.
58	CRL4 ubiquitin ligase stimulates Fanconi anemia pathway-induced single-stranded DNA-RPA signaling.BMC Cancer. 2019 Nov 5;19(1):1042. doi: 10.1186/s12885-019-6305-x.
59	Components of a Fanconi-like pathway control Pso2-independent DNA interstrand crosslink repair in yeast.PLoS Genet. 2012;8(8):e1002884. doi: 10.1371/journal.pgen.1002884. Epub 2012 Aug 9.
60	The SNM1B/APOLLO DNA nuclease functions in resolution of replication stress and maintenance of common fragile site stability.Hum Mol Genet. 2013 Dec 15;22(24):4901-13. doi: 10.1093/hmg/ddt340. Epub 2013 Jul 17.
61	Warsaw breakage syndrome DDX11 helicase acts jointly with RAD17 in the repair of bulky lesions and replication through abasic sites.Proc Natl Acad Sci U S A. 2018 Aug 14;115(33):8412-8417. doi: 10.1073/pnas.1803110115. Epub 2018 Jul 30.
62	DNA2 and EXO1 in replication-coupled, homology-directed repair and in the interplay between HDR and the FA/BRCA network.Cell Cycle. 2012 Nov 1;11(21):3983-96. doi: 10.4161/cc.22215. Epub 2012 Sep 17.
63	Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings.Eur J Hum Genet. 2018 Sep;26(9):1282-1287. doi: 10.1038/s41431-018-0128-0. Epub 2018 May 14.
64	Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome.Mol Genet Genomic Med. 2019 Jul;7(7):e00694. doi: 10.1002/mgg3.694. Epub 2019 May 23.
65	The genomic organization of the Fanconi anemia group A (FAA) gene.Genomics. 1997 May 1;41(3):309-14. doi: 10.1006/geno.1997.4675.
66	Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility.PLoS Genet. 2018 Dec 12;14(12):e1007821. doi: 10.1371/journal.pgen.1007821. eCollection 2018 Dec.
67	Fatal Lymphoproliferative Disease in Two Siblings Lacking Functional FAAP24.J Clin Immunol. 2016 Oct;36(7):684-92. doi: 10.1007/s10875-016-0317-y. Epub 2016 Jul 29.
68	A senataxin-associated exonuclease SAN1 is required for resistance to DNA interstrand cross-links.Nat Commun. 2018 Jul 3;9(1):2592. doi: 10.1038/s41467-018-05008-8.
69	Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.Cancer. 2017 Oct 15;123(20):3943-3954. doi: 10.1002/cncr.30802. Epub 2017 Jul 5.
70	The effect of folic acid on GABA(A)-B 1 receptor subunit. Adv Exp Med Biol. 2013;775:101-9. doi: 10.1007/978-1-4614-6130-2_8.
71	Identification of cytosolic proteins that bind to the Fanconi anemia complementation group C polypeptide in vitro. Evidence for a multimeric complex.J Biol Chem. 1995 Apr 28;270(17):9876-82. doi: 10.1074/jbc.270.17.9876.
72	Physical and functional crosstalk between Fanconi anemia core components and the GINS replication complex.DNA Repair (Amst). 2011 Feb 7;10(2):149-58. doi: 10.1016/j.dnarep.2010.10.006. Epub 2010 Nov 24.
73	Human alpha spectrin II and the Fanconi anemia proteins FANCA and FANCC interact to form a nuclear complex.J Biol Chem. 1999 Nov 12;274(46):32904-8. doi: 10.1074/jbc.274.46.32904.
74	Use of the glycophorin A somatic mutation assay for rapid, unambiguous identification of Fanconi anemia homozygotes regardless of GPA genotype.Am J Med Genet A. 2005 May 15;135(1):59-65. doi: 10.1002/ajmg.a.30687.
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76	RAD6B is a major mediator of triple negative breast cancer cisplatin resistance: Regulation of translesion synthesis/Fanconi anemia crosstalk and BRCA1 independence.Biochim Biophys Acta Mol Basis Dis. 2020 Jan 1;1866(1):165561. doi: 10.1016/j.bbadis.2019.165561. Epub 2019 Oct 19.
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