Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2

2006 ◽  
Vol 601 (1-2) ◽  
pp. 191-201 ◽  
Author(s):  
Barbara C. Godthelp ◽  
Paul P.W. van Buul ◽  
Nicolaas G.J. Jaspers ◽  
Elhaam Elghalbzouri-Maghrani ◽  
Annemarie van Duijn-Goedhart ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Complementation Group

scholarly journals Identification and characterization of mutations in FANCL gene: A second case of Fanconi anemia belonging to FA-L complementation group

2009 ◽  
Vol 30 (7) ◽  
pp. E761-E770 ◽  
Author(s):  
Abdullah Mahmood Ali ◽  
Michelle Kirby ◽  
Michael Jansen ◽  
Francis P. Lach ◽  
Jennifer Schulte ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Complementation Group ◽  
Identification And Characterization

scholarly journals A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M

2005 ◽  
Vol 37 (9) ◽  
pp. 958-963 ◽  
Author(s):  
Amom Ruhikanta Meetei ◽  
Annette L Medhurst ◽  
Chen Ling ◽  
Yutong Xue ◽  
Thiyam Ramsing Singh ◽  
...  
Keyword(s):  
Dna Repair ◽  
Fanconi Anemia ◽  
Complementation Group ◽  
Repair Protein ◽  
Dna Repair Protein ◽  
Human Ortholog

Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway

Blood ◽  
2005 ◽  
Vol 105 (3) ◽  
pp. 1329-1336 ◽  
Author(s):  
Jean Soulier ◽  
Thierry Leblanc ◽  
Jérôme Larghero ◽  
Hélène Dastot ◽  
Akiko Shimamura ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Cancer Susceptibility ◽  
Bone Marrow Failure ◽  
Somatic Mosaicism ◽  
Chromosome Breakage ◽  
Peripheral Blood Lymphocytes ◽  
Specific Analysis ◽  
Number Of Patients ◽  
Chromosome Fragility

AbstractFanconi anemia (FA) is characterized by congenital abnormalities, bone marrow failure, chromosome fragility, and cancer susceptibility. Eight FA-associated genes have been identified so far, the products of which function in the FA/BRCA pathway. A key event in the pathway is the monoubiquitination of the FANCD2 protein, which depends on a multiprotein FA core complex. In a number of patients, spontaneous genetic reversion can correct FA mutations, leading to somatic mosaicism. We analyzed the FA/BRCA pathway in 53 FA patients by FANCD2 immunoblots and chromosome breakage tests. Strikingly, FANCD2 monoubiquitination was detected in peripheral blood lymphocytes (PBLs) in 8 (15%) patients. FA reversion was further shown in these patients by comparison of primary fibro-blasts and PBLs. Reversion was associated with higher blood counts and clinical stability or improvement. Once constitutional FANCD2 patterns were determined, patients could be classified based on the level of FA/BRCA pathway disruption, as “FA core” (upstream inactivation; n = 47, 89%), FA-D2 (n = 4, 8%), and an unidentified downstream group (n = 2, 4%). FA-D2 and unidentified group patients were therefore relatively common, and they had more severe congenital phenotypes. These results show that specific analysis of the FA/BRCA pathway, combined with clinical and chromosome breakage data, allows a comprehensive characterization of FA patients.

scholarly journals Identification of Cytosolic Proteins That Bind to the Fanconi Anemia Complementation Group C Polypeptidein Vitro

1995 ◽  
Vol 270 (17) ◽  
pp. 9876-9882 ◽  
Author(s):  
Hagop Youssoufian ◽  
Arleen D. Auerbach ◽  
Peter C. Verlander ◽  
Viktor Steimle ◽  
Bernard Mach
Keyword(s):  
Fanconi Anemia ◽  
Complementation Group ◽  
Cytosolic Proteins

Associations of complementation group, ALDH2 genotype, and clonal abnormalities with hematological outcome in Japanese patients with Fanconi anemia

2018 ◽  
Vol 98 (2) ◽  
pp. 271-280 ◽  
Author(s):  
Miharu Yabe ◽  
Takashi Koike ◽  
Keisuke Ohtsubo ◽  
Eri Imai ◽  
Tsuyoshi Morimoto ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Japanese Patients ◽  
Complementation Group ◽  
Clonal Abnormalities

SNX5, a New Member of the Sorting Nexin Family, Binds to the Fanconi Anemia Complementation Group A Protein

1999 ◽  
Vol 265 (3) ◽  
pp. 630-635 ◽  
Author(s):  
Tetsuya Otsuki ◽  
Sachiko Kajigaya ◽  
Keiya Ozawa ◽  
Johnson M. Liu
Keyword(s):  
Fanconi Anemia ◽  
Complementation Group ◽  
Sorting Nexin ◽  
Group A
Sign in / Sign up

Export Citation Format

Share Document