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PI3K/mTOR is a therapeutically targetable genetic dependency in diffuse intrinsic pontine glioma

• Authors : Duchatel, RJ; Jackson, ER; Parackal, SG

Subjects: Cancer; Rare Diseases; Neurosciences

• Source: urn:ISSN:0021-9738 ; urn:ISSN:1558-8238 ; Journal of Clinical Investigation, 134, 6, e170329

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RUNX2 regulates leukemic cell metabolism and chemotaxis in high-risk T cell acute lymphoblastic leukemia

• Authors : Matthijssens, F; Sharma, ND; Nysus, M

Subjects: Rare Diseases; Cancer; Pediatric

• Source: urn:ISSN:0021-9738 ; urn:ISSN:1558-8238 ; Journal of Clinical Investigation, 131, 6

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Immune profiling of pediatric solid tumors

• Authors : Terry, RL; Meyran, D; Ziegler, DS

Subjects: Clinical Research; Biotechnology; Pediatric Research Initiative

• Source: urn:ISSN:0021-9738 ; urn:ISSN:1558-8238 ; Journal of Clinical Investigation, 130, 7, 3391-3402

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Synergism of FAK and tyrosine kinase inhibition in Ph+ B-ALL

• Authors : Churchman, ML; Evans, K; Richmond, J

Subjects: Rare Diseases; Pediatric; Childhood Leukemia

• Source: urn:ISSN:2379-3708 ; JCI Insight, 1, 4, e86082

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The potent bone-resorbing mediator of Actinobacillus actinomycetemcomitans is homologous to the molecular chaperone GroEL

• Authors : Kirby, AC; Meghji, S; Nair, SP

Subjects: Rare Diseases; 3 Good Health and Well Being; Aggregatibacter actinomycetemcomitans

• Source: urn:ISSN:0021-9738 ; urn:ISSN:1558-8238 ; Journal of Clinical Investigation, 96, 3, 1185-1194

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Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia.

• Authors : Pleines, Irina; Woods, Joanne; Chappaz, Stephane

Subjects: Animals; Blood Platelets; Genes

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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

• Authors : Gehin, Charlotte; Lone, Museer; Lee, Winston ...

Subjects: Homeòstasi; Esfingolípids - Metabolisme; Anomalies cromosòmiques

• Source: Scientia

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RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia

• Authors : Launay, Nathalie; Ruiz, Montserrat; Planas-Serra, Laura ...

Subjects: Neuroscience; Metabolism; Mitochondria

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Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

• Authors : Planas-Serra, Laura; Launay, Nathalie; Goicoechea, Leire ...

Subjects: Bioenergetics; Demyelinating disorders; Lipid rafts

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BCG therapy downregulates HLA-I on malignant cells to subvert antitumor immune responses in bladder cancer

• Authors : Rouanne, Mathieu; Adam, Julien; Radulescu, Camélia ...

Subjects: immunology; oncology; nonmuscle-invasive bladder cancer

• Source: ISSN: 0021-9738 ; Journal of Clinical Investigation ; https://hal.science/hal-03775092 ; Journal of Clinical Investigation, 2022, 132 (12), pp.e145666. ⟨10.1172/JCI145666⟩.

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