Chronic myeloproliferative disorders: molecular markers and pathogenesis

Skoda, Radek C.

doi:10.1038/sj.thj.6200437

Hematol J

2004

DOI: 10.1038/sj.thj.6200437

|View full text |Cite

Chronic myeloproliferative disorders: molecular markers and pathogenesis

Radek C. Skoda¹

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2005

2013

Publication Types

Select...

Article2

Relationship

Self Cite0

Independent2

Authors

Journals

Cited by 2 publications

(1 citation statement)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…[11][12][13][14][15] Hyperactivation of JAK2 due to a mutation, valine-tophenylalanine substitution at amino acid position 617, is associated with over 90% of polycythemia vera cases and contributes to massive hematopoiesis by increasing hypersensitivity to EPO and other cytokines through constitutive tyrosine phosphorylation activity. 12,16,17 Considering that JAK2 is a key protein in the signaling cascade of erythropoiesis, in this study we aimed to identify whether there is an activating mutation (V617F) of the JAK2 protein in the etiology of neonatal polycythemia, as well as polycythaemia vera. …”

mentioning

confidence: 99%

Neonatal Polycythemia May be Free of JAK2V617F Mutation

Akalın¹,

Armangil²,

Durmuş³

2013

Turkiye Klinikleri J Med Sci

View full text Add to dashboard Cite

A AB BS ST TR RA AC CT T O Ob bj je ec ct ti iv ve e: : Polycythemia is known as increased erythrocytosis and is linked to the erythropoiesis cascade including erythropoietin, erythropoietin receptor and intracellular signaling proteins. The Janus kinase 2 (JAK2) is the key signal transducer in the erythropoiesis cascade. A function gain mutation (V617F) at JAK2 gene has been identified in polycythemia vera in adults. On the other hand, the molecular etiology of neonatal polycythemia has not been elucidated well. Thus, the aim of this randomized controlled study was to investigate the role of JAK2 V617F mutation in the etiology of neonatal polycythemia similar to polycythemia vera. M Ma at te er ri ia al l a an nd d M Me et th ho od ds s: : Fifty-one neonates diagnosed with polycythemia according to venous hematocrit level over 65% and 26 healthy neonates as the control group were enrolled in the study in addition to 43 adult patients diagnosed with polycythemia vera. JAK2 V617F mutation analysis was performed using Real-Time PCR system. R Re es su ul lt ts s: : All the neonatal polycythemia patients were negative for the specific mutation JAK2 V617F, as well as 26 control neonates, whereas in 31 (72%) out of 43 adult polycythemia vera patients, JAK2 V617F mutation was present. C Co on nc cl lu us si io on n: : This is the first report showing that JAK2-V617F mutation may be an acquired somatic mutation instead of congenital and neonatal polycythemia is not related to the disrupted erythropoiesis cascade.K Ke ey y W Wo or rd ds s: : Polycythemia; polycythemia vera; janus kinase 2; infant, newborn; mutation Ö ÖZ ZE ET T A Am ma aç ç: : Polisitemi artmış eritrositoz olarak bilinmektedir ve eritropoetin, eritropoetin reseptörü ve hücre içi sinyal proteinlerini kapsayan eritropoez zinciri ile bağlantılıdır. Janus kinaz 2 (JAK2), eritropoez zincirindeki anahtar sinyal iletim proteini olup, eritropoezin tek hücre içi kinaz proteinidir. Erişkinlerde görülen polisitemi vera hastalığının moleküler zemininde JAK2 geninde bir fonksiyon kazanım mutasyonu olan v617f tanımlanmıştır. Diğer taraftan, yenidoğan polisitemisinin moleküler etiyolojisi çok iyi aydınlatılamamıştır. Bu randomize kontrollü çalışmanın amacı, polisitemi verada olduğu gibi Janus Kinaz 2 (JAK2) V617F mutasyonunun yenidoğan polisitemisinin de etyolojisinde etken olup olmadığını araştırmaktır. G Ge er re eç ç v ve e Y Yö ön n--t te em ml le er r: : Venöz hematokrit düzeyi %65'in üzerinde olmasına göre polisitemi tanısı konulan 51 yenidoğan hasta ile kontrol grubu olarak 26 sağlıklı yenidoğan çocuk çalışılmıştır. Ek olarak, polisitemi vera tanısı almış 43 erişkin hasta çalışmaya dahil edilmiştir. JAK2 V617F mutasyon analizi gerçek zamanlı polimeraz zincir reaksiyonu yöntemi ile yapılmıştır. B Bu ul lg gu ul la ar r: : Yenidoğan polisitemisi olan 51 hasta, kontrol grubundaki 26 yenidoğana benzer şekilde, özgül JAK2 V617F mutasyonu açısından negatif bulundu. Ancak, 43 erişkin polisitemi vera hastasından 31 (%72)'inde JAK2 V617F mutasyonu tespit edildi. S So on ...

show abstract

mentioning

confidence: 99%

Neonatal Polycythemia May be Free of JAK2V617F Mutation

Akalın¹,

Armangil²,

Durmuş³

2013

Turkiye Klinikleri J Med Sci

View full text Add to dashboard Cite

show abstract

Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders

et al. 2005

View full text Add to dashboard Cite

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Chronic myeloproliferative disorders: molecular markers and pathogenesis

Cited by 2 publications

References 21 publications

Neonatal Polycythemia May be Free of JAK2V617F Mutation

Neonatal Polycythemia May be Free of JAK2V617F Mutation

Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders

Contact Info

Product

Resources

About