Search Results - "Aslanyan, Mariam"
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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
Published in PLoS genetics (29-04-2019)“…PIK3C2A is a class II member of the phosphoinositide 3-kinase (PI3K) family that catalyzes the phosphorylation of phosphatidylinositol (PI) into PI(3)P and the…”
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Acquired mutations in TET2 are common in myelodysplastic syndromes
Published in Nature genetics (01-07-2009)“…Myelodysplastic syndromes (MDS) represent a heterogeneous group of neoplastic hematopoietic disorders. Several recurrent chromosomal aberrations have been…”
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Characterization of acute myeloid leukemia based on levels of global hydroxymethylation
Published in Blood (14-08-2014)“…Patients with acute myeloid leukemia (AML) frequently harbor mutations in genes involved in the DNA (hydroxy)methylation pathway (DNMT3A, TET2, IDH1, and…”
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DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2
Published in EMBO reports (11-07-2024)“…Polarized vesicular trafficking directs specific receptors and ion channels to cilia, but the underlying mechanisms are poorly understood. Here we describe a…”
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A targeted multi-proteomics approach generates a blueprint of the ciliary ubiquitinome
Published in Frontiers in cell and developmental biology (26-01-2023)“…Establishment and maintenance of the primary cilium as a signaling-competent organelle requires a high degree of fine tuning, which is at least in part…”
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TET proteins in malignant hematopoiesis
Published in Cell cycle (Georgetown, Tex.) (15-12-2009)“…Differentiation of hematopoietic stem cells into mature blood cells is a multistage process. During each stage, both extrinsic and intrinsic factors coordinate…”
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Clinical and biological impact of TET2 mutations and expression in younger adult AML patients treated within the EORTC/GIMEMA AML-12 clinical trial
Published in Annals of hematology (01-08-2014)“…We assessed the prognostic impact of TET2 mutations and mRNA expression in a prospective cohort of 357 adult AML patients < 60 years of age enrolled in the…”
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The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically
Published in Cilia (London) (25-04-2012)“…Mutations in the gene for Usher syndrome 2A (USH2A) are causative for non-syndromic retinitis pigmentosa and Usher syndrome, a condition that is the most…”
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9
Primary Cilia Change Protein Composition in Response to Glutamine Deprivation: FR-PO584
Published in Journal of the American Society of Nephrology (01-11-2023)Get full text
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Primary cilia sense glutamine availability and respond via asparagine synthetase
Published in Nature metabolism (01-03-2023)“…Depriving cells of nutrients triggers an energetic crisis, which is resolved by metabolic rewiring and organelle reorganization. Primary cilia are…”
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Aberrant 5-Hydroxymethylcytosine Levels Correlate With Poor Overall Survival In Acute Myeloid Leukemia
Published in Blood (15-11-2013)“…Patients with acute myeloid leukemia (AML) frequently harbor mutations in genes involved in the DNA (hydroxy)methylation pathway (DNMT3A, TET2, IDH1, and…”
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Journal Article