Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F10%3A6517" target="_blank" >RIV/00064203:_____/10:6517 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/10:6517

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

Original language description

CBL encodes a member of the Cbl family of proteins, which functions as an E3 ubiquitin ligase. We describe a dominant developmental disorder resulting from germline missense CBL mutations, which is characterized by impaired growth, developmental delay, cryptorchidism and a predisposition to juvenile myelomonocytic leukemia (JMML). We conclude that germline CBL mutations have developmental, tumorigenic and functional consequences that resemble disorders that are caused by hyperactive Ras/Raf/MEK/ERK signaling and include neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome and Legius syndrome.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FD - Oncology and haematology

OECD FORD branch

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Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2010

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Nature Genetics

ISSN

1061-4036

e-ISSN

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Volume of the periodical

42

Issue of the periodical within the volume

9

Country of publishing house

US - UNITED STATES

Number of pages

8

Pages from-to

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UT code for WoS article

000281388400018

EID of the result in the Scopus database

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