Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia | Zendy

B. Perez | Zendy; Françoise Méchinaud | Zendy; Claire Galambrun | Zendy; Neïla Ben Romdhane | Zendy; B. Isidor | Zendy; N. Philip | Zendy; J. Derain-Court | Zendy; Bruno Cassinat | Zendy; Julie Lachenaud | Zendy; Sophie Kaltenbach | Zendy; Alexandra Salmon | Zendy; Christelle Désirée | Zendy; Sérgio L. Pereira | Zendy; M L Menot | Zendy; Nicolas Royer | Zendy; Odile Fenneteau | Zendy; André Baruchel | Zendy; Christine Chomienne | Zendy; Alain Verloès | Zendy; Hélène Cavé | Zendy

Open Access

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia

Author(s) -

B. Perez,

Françoise Méchinaud,

Claire Galambrun,

Neïla Ben Romdhane,

B. Isidor,

N. Philip,

J. Derain-Court,

Bruno Cassinat,

Julie Lachenaud,

Sophie Kaltenbach,

Alexandra Salmon,

Christelle Désirée,

Sérgio L. Pereira,

M L Menot,

Nicolas Royer,

Odile Fenneteau,

André Baruchel,

Christine Chomienne,

Alain Verloès,

Hélène Cavé

Publication year - 2010

Publication title -

journal of medical genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.439

H-Index - 170

eISSN - 1468-6244

pISSN - 0022-2593

DOI - 10.1136/jmg.2010.076836

Subject(s) - juvenile myelomonocytic leukemia , loss of heterozygosity , germline , germline mutation , biology , missense mutation , cancer research , genetics , mutation , phenotype , gene , stem cell , allele , haematopoiesis

CBL missense mutations have recently been associated with juvenile myelomonocytic leukaemia (JMML), an aggressive myeloproliferative and myelodysplastic neoplasm of early childhood characterised by excessive macrophage/monocyte proliferation. CBL, an E3 ubiquitin ligase and a multi-adaptor protein, controls proliferative signalling networks by downregulating the growth factor receptor signalling cascades in various cell types.

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