anti-Fanconi Anemia, Complementation Group L (FANCL) Antibodies

Human Fanconi Anemia, Complementation Group L (FANCL) interaction partners

1. A novel homozygous mutation c.822_823insCTTTCAGG (p.Asp275LeufsX13) in the FANCL gene identified in a Chinese patient with Fanconi anemia (show PALB2 Antibodies).

2. Using small interfering RNA (siRNA), knockdown of FANCF (show FANCF Antibodies), FANCL, or FANCD2 (show FANCD2 Antibodies) inhibited function of the FA/BRCA pathway in A549, A549/DDP (show TIMM8A Antibodies) and SK-MES (show ME1 Antibodies)-1 cells, and potentiated sensitivity of the three cells to cisplatin.

3. Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia (show PALB2 Antibodies) Overlapping the VACTERL Association

4. a signal transduction pathway involved in self-renewal and survival of hematopoietic stem cells also functions to stabilize FANCL and suggesting that FANCL participates directly in support of stem cell function.

5. Suppression of FANCL expression in normal CD34(+) stem and (show CTNNB1 Antibodies)progenitor cells results in fewer beta-catenin active cells and inhibits expansion of multilineage progenitors.

6. FA DNA repair genes, FANCD2 (show FANCD2 Antibodies), FANCL, and FANCC (show FANCC Antibodies), are transcriptionally upregulated differently in melanoma compared with non-melanoma skin cancer

7. genetic diversity in FANCA (show FANCA Antibodies), FANCC (show FANCC Antibodies) and FANCL does not support an association of these genes with cervical cancer susceptibility in the Swedish population.

8. FANCL is associated with acute lung injury in mice

9. expression of a novel splice variant of FA complementation group L (FANCL), named FAVL, can impair the FA pathway in non-FA tumor cells and act as a tumor promoting factor

10. data suggest that PHF9 has a crucial role in the Fanconi anemia (show PALB2 Antibodies) pathway as the likely catalytic subunit required for monoubiquitination of FANCD2 (show FANCD2 Antibodies)

Mouse (Murine) Fanconi Anemia, Complementation Group L (FANCL) interaction partners

1. The authors report the structure of the human FANCL central domain and show that the RING domain is necessary and sufficient for E2 binding.

2. Using HeLa cells and lymphoblasts from Fanconi anemia (show PALB2 Antibodies) patients, the authors characterize PHF9 (FANCL) as a ubiquitin ligase (show RNF123 Antibodies) and show it is essential for FANCD2 (show FANCD2 Antibodies) monoubiquitination. The authors state that PHF9 is the human homolog of mouse Pog (Fancl).

3. FANCL increases the activity and expression of beta-catenin (show CTNNB1 Antibodies), a key pluripotency factor in hematopoietic stem cells.

4. UBE2W (show UBE2W Antibodies) regulates FANCD2 (show FANCD2 Antibodies) monoubiquitination by mechanisms different from UBE2T (show Ube2t Antibodies) and HRR6.

5. Fancl is associated with acute lung injury

6. expression of a novel splice variant of FA complementation group L (FANCL), named FAVL, can impair the FA pathway in non-FA tumor cells and act as a tumor promoting factor

7. Deletion of Pog causes germ cell deficiency, but is also accompanied by reduced embryonic body weight and sometimes lethality.

8. GGN1 and GGN3, interacted with POG, regulated the localization of POG, and played a role in spermatogenesis.

9. unlike in POG-deficient females, the germ cells in POG-deficient males eventually populate the seminiferous tubules at 9 wk, and fertility can be achieved by 12 wk.