• No results found

Fanconi Anemia

Mutated Fanconi anemia pathway in non-Fanconi anemia cancers

Mutated Fanconi anemia pathway in non-Fanconi anemia cancers

... with Fanconi Anemia (FA) have marked it to be a unique genetic model system to study human cancer etiology and treatment, which has emerged an intense area of investigation in cancer ...

8

Fanconi Anemia Genes and Reactive Oxygen Species in Cancer Development

Fanconi Anemia Genes and Reactive Oxygen Species in Cancer Development

... The most important discovery in FA molecular mechanisms was the identification of Fanconi anemia genes responsible for synthesis of special FA proteins FANC (among them FANCA, FANCB, FANCC, FANCE, FANCF, ...

7

Case series of Fanconi anemia in Hevi pediatric hospital-Duhok

Case series of Fanconi anemia in Hevi pediatric hospital-Duhok

... Fanconi anemia is an inherited recessive disorder that leads to bone marrow failure (aplastic anemia. The description of the natural history of FA patients was potentially limited due to a small ...

9

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia

... recombination (HR). Here we have shown that an RFWD3 mutation within the WD40 domain is connected to the genetic disease Fanconi anemia (FA). An individual presented with congenital abnormalities ...

16

RNF4 mediated polyubiquitination regulates the Fanconi anemia/BRCA pathway

RNF4 mediated polyubiquitination regulates the Fanconi anemia/BRCA pathway

... (Fanconi Anemia Research Fund), FAAP20 (Sigma-Aldrich), FANCD2 (FI-17, Santa Cruz), Flag (M2, Sigma-Aldrich), Myc (9E10, Sigma-Aldrich), HA (6E2, Cell Signal- ing), β-actin (Cell Signaling), β-tubulin ...

11

Skin and Mucosal Human Papillomavirus Seroprevalence in Persons with Fanconi Anemia

Skin and Mucosal Human Papillomavirus Seroprevalence in Persons with Fanconi Anemia

... with Fanconi anemia (FA) are at risk for human papillomavirus (HPV)-associated cancers; however, their natural HPV exposure and infection rates are unknown as is the adequacy with which they mount ...

8

Loss of Dependence on Continued Expression of the Human Papillomavirus 16 E7 Oncogene in Cervical Cancers and Precancerous Lesions Arising in Fanconi Anemia Pathway Deficient Mice

Loss of Dependence on Continued Expression of the Human Papillomavirus 16 E7 Oncogene in Cervical Cancers and Precancerous Lesions Arising in Fanconi Anemia Pathway Deficient Mice

... IMPORTANCE Fanconi anemia (FA) patients are at high risk for developing squamous cell carcinoma (SCC) at sites where high- risk human papillomaviruses (HPVs) frequently cause ...

7

Fanconi anemia signaling network regulates the spindle assembly checkpoint

Fanconi anemia signaling network regulates the spindle assembly checkpoint

... Fanconi anemia (FA) is a genetic disorder resulting from germline mutations in 1 out of 15 known FA or FA-like genes (FANCA–FANCP) (1–3). In addition to bone marrow failure and congenital malformations, ...

10

Cytoplasmic localization of FAC is essential for the correction of a prerepair defect in Fanconi anemia group C cells

Cytoplasmic localization of FAC is essential for the correction of a prerepair defect in Fanconi anemia group C cells

... in Fanconi anemia comple- mentation group C, FAC , are responsible for a subset of Fanconi anemia, a group of autosomal recessive disorders characterized by chromosomal instability, ...

9

An Algorithm for Target Identification of Fanconi Anemia in Drug Discovery

An Algorithm for Target Identification of Fanconi Anemia in Drug Discovery

... place. Fanconi Anemia is one of the unusual disorders which arises by the means of blockage of DNA ...of Fanconi Anemia is cancer which is sometimes exacerbated and no other remedy found even ...

6

A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing

A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing

... A nine years old male child was brought to us one year ago for opinion and advice. He was already seen in many other tertiary care centres and was diagnosed to have Fanconi Anemia (FA) at 8 years of age. ...

8

Fanconi anemia pathway–deficient tumor cells are hypersensitive to inhibition of ataxia telangiectasia mutated

Fanconi anemia pathway–deficient tumor cells are hypersensitive to inhibition of ataxia telangiectasia mutated

... The Fanconi anemia (FA) pathway is one of the DNA damage response mechanisms frequently lost in ...monoubiquitinates Fanconi anemia complementation group D2 (FANCD2), resulting in its associa- ...

11

Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup

Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup

... Fig. 7 Fanconi Anemia Pathway. Endogenous and exogenous agent cause interstrand crosslink lesions (ICL). When an ICL occurs, the replication fork is stalled and the FA pathway is activated with the ...

13

Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis

Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis

... of anemia, has recently been recognized as a marker of chronic inflammation and high levels of oxidative stress ...(OS). Fanconi anemia (FA) is a genetic disorder associated to redox imbalance and ...

10

Fanconi anemia cells with unrepaired DNA damage activate components of the checkpoint recovery process

Fanconi anemia cells with unrepaired DNA damage activate components of the checkpoint recovery process

... and Fanconi anemia (FA) [12] whose phenotype results from mutations in any of the genes that conform the FA/BRCA pathway [13–19] and consists of chromatidic breaks, iso-chromatidic breaks and radial ...

22

Evaluation of Growth and Hormonal Status in Patients Referred to the International Fanconi Anemia Registry

Evaluation of Growth and Hormonal Status in Patients Referred to the International Fanconi Anemia Registry

... Conclusion. Endocrinopathies are a common feature of FA, primarily manifesting as glucose/insulin abnor- malities, GH insufficiency, and hypothyroidism. Al- though short stature is a well-recognized feature of FA, 23 ...

13

Fanconi anemia genes in lung adenocarcinoma- a pathway-wide study on cancer susceptibility

Fanconi anemia genes in lung adenocarcinoma- a pathway-wide study on cancer susceptibility

... The Fanconi anemia (FA) pathway regulates the repair of DNA cross- linking damage [14–16], and it is tempting to speculate on a possible lung tumorigenic role of this ...

11

Fanconi anemia manifesting as a squamous cell carcinoma of the hard palate: a case report

Fanconi anemia manifesting as a squamous cell carcinoma of the hard palate: a case report

... poxybutane (DEB) and mitomycin (MML). Presence of mutations of in one of the different FA genes, FA can be divided into eight complementary groups (A, B, C, D1, D2, E, F, G), with each group having in common the cel- ...

5

Fanconi anemia: young patients at high risk for squamous cell carcinoma

Fanconi anemia: young patients at high risk for squamous cell carcinoma

... Fanconi anemia is a rare inherited condition with an incidence of approximately 1 in 200,000 births and a median life expectancy in the mid-1920s. With the exception of the X-chromosomal FANCB gene, ...

6

Fanconi anemia genes are highly expressed in primitive CD34+hematopoietic cells

Fanconi anemia genes are highly expressed in primitive CD34+hematopoietic cells

... This work was supported by grants from the Canadian Institutes of Health Research (CIHR), the Fanconi anemia Research Fund inc., the Fanconi Canada foundation, a CIHR junior investigator award (M.C.) ...

9

Show all 2081 documents...

Related subjects