258 related articles for article (PubMed ID: 20543203)
1. Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.
Pérez B; Mechinaud F; Galambrun C; Ben Romdhane N; Isidor B; Philip N; Derain-Court J; Cassinat B; Lachenaud J; Kaltenbach S; Salmon A; Désirée C; Pereira S; Menot ML; Royer N; Fenneteau O; Baruchel A; Chomienne C; Verloes A; Cavé H
J Med Genet; 2010 Oct; 47(10):686-91. PubMed ID: 20543203
[TBL] [Abstract][Full Text] [Related]
2. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
Niemeyer CM; Kang MW; Shin DH; Furlan I; Erlacher M; Bunin NJ; Bunda S; Finklestein JZ; Gorr TA; Mehta P; Schmid I; Kropshofer G; Corbacioglu S; Lang PJ; Klein C; Schlegel PG; Heinzmann A; Schneider M; Starý J; van den Heuvel-Eibrink MM; Hasle H; Locatelli F; Sakai D; Archambeault S; Chen L; Russell RC; Sybingco SS; Ohh M; Braun BS; Flotho C; Loh ML
Nat Genet; 2010 Sep; 42(9):794-800. PubMed ID: 20694012
[TBL] [Abstract][Full Text] [Related]
3. Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.
Pathak A; Pemov A; McMaster ML; Dewan R; Ravichandran S; Pak E; Dutra A; Lee HJ; Vogt A; Zhang X; Yeager M; Anderson S; Kirby M; ; ; Caporaso N; Greene MH; Goldin LR; Stewart DR
Hum Genet; 2015 Jul; 134(7):775-87. PubMed ID: 25939664
[TBL] [Abstract][Full Text] [Related]
4. Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia.
Muramatsu H; Makishima H; Jankowska AM; Cazzolli H; O'Keefe C; Yoshida N; Xu Y; Nishio N; Hama A; Yagasaki H; Takahashi Y; Kato K; Manabe A; Kojima S; Maciejewski JP
Blood; 2010 Mar; 115(10):1969-75. PubMed ID: 20008299
[TBL] [Abstract][Full Text] [Related]
5. Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy.
Muraoka M; Okuma C; Kanamitsu K; Ishida H; Kanazawa Y; Washio K; Seki M; Kato M; Takita J; Sato Y; Ogawa S; Tsukahara H; Oda M; Shimada A
J Hum Genet; 2016 Jun; 61(6):523-6. PubMed ID: 26911351
[TBL] [Abstract][Full Text] [Related]
6. Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia.
Pérez B; Kosmider O; Cassinat B; Renneville A; Lachenaud J; Kaltenbach S; Bertrand Y; Baruchel A; Chomienne C; Fontenay M; Preudhomme C; Cavé H
Br J Haematol; 2010 Dec; 151(5):460-8. PubMed ID: 20955399
[TBL] [Abstract][Full Text] [Related]
7. Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder.
Hyakuna N; Muramatsu H; Higa T; Chinen Y; Wang X; Kojima S
Pediatr Blood Cancer; 2015 Mar; 62(3):542-4. PubMed ID: 25283271
[TBL] [Abstract][Full Text] [Related]
8. Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
Loh ML; Sakai DS; Flotho C; Kang M; Fliegauf M; Archambeault S; Mullighan CG; Chen L; Bergstraesser E; Bueso-Ramos CE; Emanuel PD; Hasle H; Issa JP; van den Heuvel-Eibrink MM; Locatelli F; Stary J; Trebo M; Wlodarski M; Zecca M; Shannon KM; Niemeyer CM
Blood; 2009 Aug; 114(9):1859-63. PubMed ID: 19571318
[TBL] [Abstract][Full Text] [Related]
9. Primary Graft Failure but Treatment Success: A Case of Reversion to Heterozygosity After Allogeneic Hematopoietic Cell Transplantation With Autologous Hematopoietic Recovery in a Child With CBL-related Juvenile Myelomonocytic Leukemia.
Oshrine B
J Pediatr Hematol Oncol; 2021 Apr; 43(3):e426-e428. PubMed ID: 32032248
[TBL] [Abstract][Full Text] [Related]
10. Juvenile myelomonocytic leukaemia-associated mutation in Cbl promotes resistance to apoptosis via the Lyn-PI3K/AKT pathway.
Bunda S; Qin K; Kommaraju K; Heir P; Ohh M
Oncogene; 2015 Feb; 34(6):789-97. PubMed ID: 24469048
[TBL] [Abstract][Full Text] [Related]
11. [Juvenile myelomonocytic leukemias].
Lachenaud J; Strullu M; Baruchel A; Cavé H
Bull Cancer; 2014 Mar; 101(3):302-13. PubMed ID: 24691193
[TBL] [Abstract][Full Text] [Related]
12. VAV1-Cre mediated hematopoietic deletion of CBL and CBL-B leads to JMML-like aggressive early-neonatal myeloproliferative disease.
An W; Mohapatra BC; Zutshi N; Bielecki TA; Goez BT; Luan H; Iseka F; Mushtaq I; Storck MD; Band V; Band H
Oncotarget; 2016 Sep; 7(37):59006-59016. PubMed ID: 27449297
[TBL] [Abstract][Full Text] [Related]
13. Management of Two Juvenile Myelomonocytic Leukemia Patients According to Clinical and Genetic Features.
Tüfekçi Ö; Ören H; Demir Yenigürbüz F; Gözmen S; Karapınar TH; İrken G
Turk J Haematol; 2015 Jun; 32(2):175-9. PubMed ID: 26316488
[TBL] [Abstract][Full Text] [Related]
14. Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia.
Hecht A; Meyer JA; Behnert A; Wong E; Chehab F; Olshen A; Hechmer A; Aftandilian C; Bhat R; Choi SW; Chonat S; Farrar JE; Fluchel M; Frangoul H; Han JH; Kolb EA; Kuo DJ; MacMillan ML; Maese L; Maloney KW; Narendran A; Oshrine B; Schultz KR; Sulis ML; Van Mater D; Tasian SK; Hofmann WK; Loh ML; Stieglitz E
Haematologica; 2022 Jan; 107(1):178-186. PubMed ID: 33375775
[TBL] [Abstract][Full Text] [Related]
15. In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signature of juvenile myelo-monocytic leukemia.
Strullu M; Caye A; Cassinat B; Fenneteau O; Touzot F; Blauwblomme T; Rodriguez R; Latour S; Petit A; Barlogis V; Galambrun C; Leblanc T; Baruchel A; Chomienne C; Cavé H
Leukemia; 2013 Dec; 27(12):2404-7. PubMed ID: 23823657
[No Abstract] [Full Text] [Related]
16. A case of splenomegaly in CBL syndrome.
Coe RR; McKinnon ML; Tarailo-Graovac M; Ross CJ; Wasserman WW; Friedman JM; Rogers PC; van Karnebeek CDM
Eur J Med Genet; 2017 Jul; 60(7):374-379. PubMed ID: 28414188
[TBL] [Abstract][Full Text] [Related]
17. Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants.
Baccelli F; Leardini D; Muratore E; Messelodi D; Bertuccio SN; Chiriaco M; Cancrini C; Conti F; Castagnetti F; Pedace L; Pession A; Yoshimi A; Niemeyer C; Tartaglia M; Locatelli F; Masetti R
Hum Genomics; 2022 Sep; 16(1):40. PubMed ID: 36123612
[TBL] [Abstract][Full Text] [Related]
18. Transient immune deficiency accompanied with homozygous CBL rare variant.
Morishita A; Yeh TW; Tomari K; Furuichi M; Kashimada K; Morio T; Takagi M; Imai K
Pediatr Int; 2023 Jan; 65(1):e15439. PubMed ID: 36495474
[TBL] [Abstract][Full Text] [Related]
19. Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23.
Hanson HL; Wilson MJ; Short JP; Chioza BA; Crosby AH; Nash RM; Marks KJ; Mansour S
Am J Med Genet A; 2014 Apr; 164A(4):1003-9. PubMed ID: 24458550
[TBL] [Abstract][Full Text] [Related]
20. CBL linker region and RING finger mutations lead to enhanced granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling via elevated levels of JAK2 and LYN.
Javadi M; Richmond TD; Huang K; Barber DL
J Biol Chem; 2013 Jul; 288(27):19459-70. PubMed ID: 23696637
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]