Joosten P.H., Toepoel M., Mariman E.C., Van Zoelen E.J.

Nat. Genet. 27:215-217(2001) GAD 132448 GeneRIF 5156 · Mapped (1)
Associated with DEVELOPMENTAL: neural tube defects; GAD 132448 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 5156

Bruck P., Wassmann B., Lopez E.R., Hoelzer D., Ottmann O.G.

Leuk. Res. 28:1153-1157(2004) GAD 132447 GeneRIF 5156 · Mapped (5)
Not Associated with UNKNOWN: tyrosine kinase inhibitor pharmacokinetics; GAD 132447 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 5156

Tambur A.R., Pamboukian S., Costanzo M.R., Heroux A.

J. Heart Lung Transplant. 25:690-698(2006) GAD 152474 GeneRIF 5156 · Mapped (47)
Associated with CARDIOVASCULAR: heart transplant complications; GAD 152474 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 5156

Sanna S., Jackson A.U., Nagaraja R., Willer C.J., Chen W.M., Bonnycastle L.L., Shen H., Timpson N., Lettre G., Usala G. et al.

Nat. Genet. 40:198-203(2008) GAD 599277 · Mapped (21)
Associated with DEVELOPMENTAL: height; GAD 599277

Ribom D., Andrae J., Frielingsdorf M., Hartman M., Nister M., Smits A.

J. Neurol. Neurosurg. Psychiatr. 72:782-787(2002) GeneRIF 5156 · Mapped (1)
high expression associated with long survival in patients with grade 2 astrocytomas and oligoastrocytomas GeneRIF 5156

Andrae J., Molander C., Smits A., Funa K., Nister M.

Biochem. Biophys. Res. Commun. 296:604-611(2002) GeneRIF 5156 · UniProtKB (1) · Mapped (10)
PDGFRA is endogenenously activated in medulloblastoma tumor cell lines GeneRIF 5156

Pardanani A., Ketterling R.P., Brockman S.R., Flynn H.C., Paternoster S.F., Shearer B.M., Reeder T.L., Li C.Y., Cross N.C., Cools J. et al.

Blood 102:3093-3096(2003) GeneRIF 5156 · Mapped (7)
observations suggest that the FIP1L1-PDGFRA rearrangement occurs in an early hematopoietic progenitor and suggests that the molecular pathogenesis for a subset of SMCD patients is similar to that of HES GeneRIF 5156

Cools J., Quentmeier H., Huntly B.J., Marynen P., Griffin J.D., Drexler H.G., Gilliland D.G.

Blood 103:2802-2805(2004) GeneRIF 5156 · Mapped (8)
results indicate that the fusion of FIP1L1 to PDGFRA occurs rarely in leukemia cell lines GeneRIF 5156

Zhu H., Wicker N.J., Volcik K., Zhang J., Shaw G.M., Lammer E.J., Suarez L., Canfield M., Finnell R.H.

Mol. Genet. Metab. 81:127-132(2004) GeneRIF 5156 · Mapped (1)
Result from our case-control study demonstrated that the frequencies of haplotypes with low transcription activity were significantly higher in NTD mothers than that observed in control mothers (odds ratio=2.2 95% CI=1.0-4.6). GeneRIF 5156

Al-Ali H.K., Heinrich M.C., Lange T., Krahl R., Mueller M., Muller C., Niederwieser D., Druker B.J., Deininger M.W.

Hematol. J. 5:55-60(2004) GeneRIF 5156 · Mapped (25)
results confirm the high frequency of BCR-ABL kinase domain mutations in patients with secondary resistance to imatinib and exclude mutations of the activation loops of KIT PDGFRA and PDGFRB as causes of resistance in patients without ABL mutations GeneRIF 5156

Afink G., Westermark U.K., Lammerts E., Nister M.

Biochem. Biophys. Res. Commun. 315:313-318(2004) GeneRIF 5156 · Mapped (3)
PDGFRa expression is regulated by C-EBP GeneRIF 5156

Wasag B., Debiec-Rychter M., Pauwels P., Stul M., Vranckx H., Oosterom A.V., Hagemeijer A., Sciot R.

Mod. Pathol. 17:889-894(2004) GeneRIF 5156 · Mapped (8)
PDGFRA mutations were found in 7 (25.0%)gastrointestinal stromal tumors (GISTs) carrying either D842 V mutations or exon 18 deletions. GeneRIF 5156

Pardanani A., Brockman S.R., Paternoster S.F., Flynn H.C., Ketterling R.P., Lasho T.L., Ho C.L., Li C.Y., Dewald G.W., Tefferi A.

Blood 104:3038-3045(2004) GeneRIF 5156 · Mapped (8)
FIP1L1-PDGFRA is a relatively infrequent but treatment-relevant mutation in primary eosinophilia that is indicative of an underlying systemic mastocytosis. GeneRIF 5156

Subramanian S., West R.B., Corless C.L., Ou W., Rubin B.P., Chu K.M., Leung S.Y., Yuen S.T., Zhu S., Hernandez-Boussard T. et al.

Oncogene 23:7780-7790(2004) GeneRIF 5156 · Mapped (8)
gene expression profiling of 26 gastrointesstinsal stromsal tumors with known KIT and PDGFRA mutational status GeneRIF 5156

Sakurai S., Hasegawa T., Sakuma Y., Takazawa Y., Motegi A., Nakajima T., Saito K., Fukayama M., Shimoda T.

Hum. Pathol. 35:1223-1230(2004) GeneRIF 5156 · Mapped (1)
These results suggest that myxoid epithelioid GISTs are a distinct subtype of GISTs that are closely correlated with the PDGFRA gene mutation GeneRIF 5156

De Bustos C., Smits A., Stromberg B., Collins V.P., Nister M., Afink G.

J. Med. Genet. 42:31-37(2005) GeneRIF 5156 · Mapped (1)
link between single nucleotide polymorphisms (SNPs) within the PDGFRalpha gene promoter and the occurrence of brain tumours GeneRIF 5156

Hiwatari M., Taki T., Tsuchida M., Hanada R., Hongo T., Sako M., Hayashi Y.

Leukemia 19:476-477(2005) GeneRIF 5156 · Mapped (1)
The Receptor PDGF alpha (PDGFRA)is implicated in the pathogenesis of AML and the mechanisms of cytogenetic progression and oncoprotein-driven function may be similar in AML expressing oncogenic forms of PDGFRA. GeneRIF 5156

Debiec-Rychter M., Cools J., Dumez H., Sciot R., Stul M., Mentens N., Vranckx H., Wasag B., Prenen H., Roesel J. et al.

Gastroenterology 128:270-279(2005) GeneRIF 5156 · Mapped (8)
High sensitivity of the imatinib-resistant KIT -T670I and KIT -V654A and of PDGFRA -D842V mutants to PKC412 in gastrointestinal stromal tumors. GeneRIF 5156

Wilczynski S.P., Chen Y.Y., Chen W., Howell S.B., Shively J.E., Alberts D.S.

Hum. Pathol. 36:242-249(2005) GeneRIF 5156 · Mapped (17)
study demonstrates that platelet-derived growth factor receptor alpha and beta and c-kit protein are expressed in a high percentage of epithelial ovarian cancers GeneRIF 5156

Nazarova N., Golovko O., Blauer M., Tuohimaa P.

J. Steroid Biochem. Mol. Biol. 94:189-196(2005) GeneRIF 5156 · Mapped (5)
Western blot showed a high amount of PDGFRalpha and beta proteins in primary stromal cells that could not be detected in prostatic cancer cells. GeneRIF 5156

Morelli P.I., Martinsson S., Ostergren-Lunden G., Friden V., Moses J., Bondjers G., Krettek A., Lustig F.

Atherosclerosis 184:39-47(2006) GeneRIF 5156 · Mapped (1)
In human ASMCs IFNgamma again stimulated a transient STAT1-binding to the PDGF-Ralpha promoter. GeneRIF 5156

Yi E.S., Strong C.R., Piao Z., Perucho M., Weidner N.

Appl. Immunohistochem. Mol. Morphol. 13:157-161(2005) GeneRIF 5156 · Mapped (1)
single example of Gastrointestinal Stromal Tumor with activating mutation and immunoreactivity without CD117 positivity GeneRIF 5156

Takazawa Y., Sakurai S., Sakuma Y., Ikeda T., Yamaguchi J., Hashizume Y., Yokoyama S., Motegi A., Fukayama M.

Am. J. Surg. Pathol. 29:755-763(2005) GeneRIF 5156 · Mapped (8)
The point mutations of c-kit and platelet- derived growth factor receptor alpha genes may play a limited role in the tumorigenesis of type 1 neurofibromatosis-associated gastrointestinal stromal tumors. GeneRIF 5156

Nemchenko I.S., Khoroshko N.D., Turkina A.G., Sokolova M.A., Kokhno A.V., Semenova E.A., Zakharova A.V.

Ter. Arkh. 77:90-92(2005) GeneRIF 5156 · Mapped (1)
The hypereosinophilic syndrome may result from a novel fusion tyrosine kinase - FIP1L1-PDGFRalpha - that is a consequence of an interstitial chromosomal deletion. GeneRIF 5156

Martin J., Poveda A., Llombart-Bosch A., Ramos R., Lopez-Guerrero J.A., Garcia del Muro J., Maurel J., Calabuig S., Gutierrez A., Gonzalez de Sande J.L. et al.

J. Clin. Oncol. 23:6190-6198(2005) GeneRIF 5156 · Mapped (8)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 5156