about
MiR-34a targeting of Notch ligand delta-like 1 impairs CD15+/CD133+ tumor-propagating cells and supports neural differentiation in medulloblastomaNew insights on hereditary erythrocyte membrane defectsMissense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells.The micro-RNA 199b-5p regulatory circuit involves Hes1, CD15, and epigenetic modifications in medulloblastoma.Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemiaPeroxiredoxin-2 plays a pivotal role as multimodal cytoprotector in the early phase of pulmonary hypertension.Diagnosis and management of congenital dyserythropoietic anemias.Trasferrin receptor 2 gene regulation by microRNA 221 in SH-SY5Y cells treated with MPP⁺ as Parkinson's disease cellular model.Rapid Cl⁻/HCO⁻₃exchange kinetics of AE1 in HEK293 cells and hereditary stomatocytosis red blood cells.The metallophosphodiesterase Mpped2 impairs tumorigenesis in neuroblastoma.Correlation of NM23-H1 cytoplasmic expression with metastatic stage in human prostate cancer tissue.Recommendations regarding splenectomy in hereditary hemolytic anemias.Inhibition of hypoxia inducible factors combined with all-trans retinoic acid treatment enhances glial transdifferentiation of neuroblastoma cells.Dietary ω-3 fatty acids protect against vasculopathy in a transgenic mouse model of sickle cell disease.Data demonstrating the role of peroxiredoxin 2 as important anti-oxidant system in lung homeostasis.Next generation research and therapy in red blood cell diseases.Hereditary xerocytosis revisitedRed cells in post-genomic era: impact of personalized medicine in the treatment of anemias.GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II.Hereditary stomatocytosis: An underdiagnosed condition.Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II.Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis.Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).Identification of ALK germline mutation (3605delG) in pediatric anaplastic medulloblastoma.Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.Chromosome 9q and 16q loss identified by genome-wide pooled-analysis are associated with tumor aggressiveness in patients with classic medulloblastoma.Resolution of sickle cell disease associated inflammation and tissue damage with 17R-Resolvin D1Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patientsHypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood CellsIdentification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 geneLabel-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited AnemiasGain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathwayGermline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predispositionAdvances in understanding the pathogenesis of red cell membrane disordersThe BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variantKinome multigenic panel identified novel druggable EPHB4-V871I somatic variant in high-risk neuroblastoma
P50
Q27320938-591379DD-642C-4876-A461-34B67670928BQ28076162-B214E39B-3978-4A8B-9FB9-608BDB1647E3Q30424018-E0BA381F-0A87-4145-ACA6-E97A3EC75AD7Q34032172-79EAAF0C-851F-430F-8104-2B1542B73E05Q35914487-3EFBE9FC-C926-43CF-BF44-9FB88EFA9C8AQ37140474-9C34CFFB-45B9-407E-A34C-117A2F148891Q38628344-37BE02C4-B3EF-4991-89BE-0D55554744D1Q38664955-88369A7F-039A-4D6E-8770-4167464477E0Q39093505-66637D9C-F68F-4651-9A1F-D42BC350F23AQ39127756-F420D24F-9EC9-45C2-9E6E-E7D35CE39CD0Q39409377-FB59A3EB-8B45-4044-B69A-E7E319E1BF1CQ39546238-940A2FB9-F918-481E-BC5B-65581C143242Q40196891-B877D176-35E2-4AD8-9757-4F0F2E7A3C2DQ40854486-3C92666C-0452-48B0-A49B-C9444487BF91Q40985507-EC7DAF6A-E5D6-43AD-98C9-C959BB12ADE2Q42374680-573A146F-F982-4C08-8833-D827D7C4BC63Q42399883-1EB4D510-6FC3-4736-9307-8E0178EB0D20Q42556185-FA3F31D9-7A9E-42D4-A683-A391F8CA1D34Q43087294-172B522A-22C5-438C-A86D-534A42A08B78Q47140486-26E79E19-F8B2-47F5-A65F-858EE50DE7C2Q47859778-BA824FFB-B1E6-4B37-8117-02A5800D1A6DQ48104799-7206991C-3DBC-44DE-8D42-065119915512Q48111504-E611EC9C-1B6C-457E-854C-F7529E762458Q48140970-1F990238-067B-49D3-A569-27BCA2F802A9Q48628796-C1C3C48A-456D-4E27-AFE4-C2D12990B433Q49388025-58ECE0EB-11D5-495C-86AB-B036984E16B3Q50440416-B45C7525-FA1C-47E2-8240-15D34C7A8D5EQ50794979-BB40B476-32D7-48BC-BF0A-4C2B8A558A30Q53086702-EAD75188-B2AC-4A09-9845-779FE1D7EF78Q55463364-84E9B008-E4F9-4BEB-BC1D-ED09BBB2B1B0Q58592833-4016D2C7-DF8F-49C7-B98E-76AB17FC532CQ60619255-B1F79DD4-43CA-4F27-AE76-40138DD0DA6DQ64087030-27AF007D-5678-4E4C-B6D8-6EF3EA8990B3Q87386240-ABB770A1-5778-4A2D-B502-8D7DD6D5197AQ88788450-D728A07A-3D56-41E2-BDA1-A33F5C8C47E6Q91320350-DC0D13F6-FDBB-471D-B563-3E657F89688BQ91669343-B56CC937-B86F-4C5A-8C02-5F1A7D147EFDQ92303301-ADCF2BD5-1332-427F-A170-EFF44F5831FCQ92537141-D66DE7AA-2E72-4AE4-A48A-41FEB3E13BDCQ93234734-5C32F03A-3F83-4958-AA3A-2DC47CB9740A
P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Immacolata Andolfo
@ast
Immacolata Andolfo
@en
Immacolata Andolfo
@es
Immacolata Andolfo
@nl
type
label
Immacolata Andolfo
@ast
Immacolata Andolfo
@en
Immacolata Andolfo
@es
Immacolata Andolfo
@nl
prefLabel
Immacolata Andolfo
@ast
Immacolata Andolfo
@en
Immacolata Andolfo
@es
Immacolata Andolfo
@nl
P106
P31
P496
0000-0003-0493-812X