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

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About: Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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. 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. (en)
Title	Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia (en)
skos:prefLabel	Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia (en)
skos:notation	RIV/00064203:_____/10:6517!RIV11-MZ0-00064203
http://linked.open...avai/riv/aktivita	I
http://linked.open...avai/riv/aktivity	I
http://linked.open...iv/cisloPeriodika	9
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Starý, Jan
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	260729
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/10:6517
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	genotype-phenotype correlation; acute lymphoblastic-leukemia; colony-stimulating factor; acute myeloid-leukemia; gain-of-function; c-cbl; myeloproliferative disorder; hematopoietic-cells; ptpn11 mutations; noonan-syndrome (en)
http://linked.open.../riv/klicoveSlovo	c-cbl hematopoietic-cells colony-stimulating factor acute myeloid-leukemia acute lymphoblastic-leukemia myeloproliferative disorder gain-of-function genotype-phenotype correlation noonan-syndrome ptpn11 mutations
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[5E76C85BC0D3]
http://linked.open...i/riv/nazevZdroje	Nature Genetics
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	32 (xsd:int)
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	42
http://linked.open...iv/tvurceVysledku	Starý, Jan Locatelli, Franco Hasle, Henrik Loh, Mignon Archambeault, Sophie Braun, Benjamin Bunda, Severa Bunin, Nancy Chen, Leslie Corbacioglu, Selim Erlacher, Miriam Finklestein, Jerry Flotho, Christian Furlan, Ingrid Gorr, Thomas Heinzmann, Andrea Heuvel-Eibrink, Marry Kang, Michelle W. Klein, Christoph Kropshofer, Gabriele Lang, Peter Mehta, Parinda Niemeyer, Charlotte M. Ohh, Michael Russell, Ryan Sakai, Debbie Sakamoto, Kathleen Schlegel, Paul-Gerhard Schmid, Irene Schneider, Michaela Shin, Danielle H. Sybingco, Stephanie
http://linked.open...ain/vavai/riv/wos	000281388400018
issn	1061-4036
number of pages	8 (xsd:int)

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