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Akademický článek

Multifocal Neuroblastoma and Central Hypoventilation in An Infant with Germline ALK F1174I Mutation

Autor: Anna Djos, Diana Treis, Susanne Fransson, Lena Gordon Murkes, Sandra Wessman, Jurate Ásmundsson, Agneta Markström, Per Kogner, Tommy Martinsson

Publikováno v: Diagnostics, Vol 12, Iss 9, p 2260 (2022)

A preterm infant with central hypoventilation was diagnosed with multifocal neuroblastoma. Congenital anomalies of the autonomic nervous system in association with neuroblastoma are commonly associated with germline mutations in PHOX2B. Further, the

Externí odkaz: https://doaj.org/article/adca38d569f04e61bc19932c66f1b595

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Neuroblastoma Heterogeneity, Plasticity, and Emerging Therapies

Autor: Kristina Ihrmark Lundberg, Diana Treis, John Inge Johnsen

Publikováno v: Current oncology reportsPapers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance. 24(8)

Purpose of Review The evolving information of the initiation, tumor cell heterogeneity, and plasticity of childhood neuroblastoma has opened up new perspectives for developing therapies based on detailed knowledge of the disease. Recent Findings The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6f9d88eb07132e194fa7f55b0201171
https://pubmed.ncbi.nlm.nih.gov/35362827

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Sustained Response to Entrectinib in an Infant With a Germline ALKAL2 Variant and Refractory Metastatic Neuroblastoma With Chromosomal 2p Gain and Anaplastic Lymphoma Kinase and Tropomyosin Receptor Kinase Activation

Autor: Diana, Treis, Ganesh, Umapathy, Susanne, Fransson, Jikui, Guan, Patricia, Mendoza-García, Joachim T, Siaw, Sandra, Wessman, Lena, Gordon Murkes, Jakob J E, Stenman, Anna, Djos, Lotta H M, Elfman, John Inge, Johnsen, Bengt, Hallberg, Ruth H, Palmer, Tommy, Martinsson, Per, Kogner

Publikováno v: JCO precision oncology. 6

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e6ce67e1285fd4db5f0d2812b61db5dd
https://pubmed.ncbi.nlm.nih.gov/35085006

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PPM1D Is a Therapeutic Target in Childhood Neural Tumors

Autor: Johnsen, Jelena Milosevic, Diana Treis, Susanne Fransson, Gabriel Gallo-Oller, Baldur Sveinbjörnsson, Nina Eissler, Keiji Tanino, Kazuyasu Sakaguchi, Tommy Martinsson, Malin Wickström, Per Kogner, John Inge

Publikováno v: Cancers; Volume 13; Issue 23; Pages: 6042

Childhood medulloblastoma and high-risk neuroblastoma frequently present with segmental gain of chromosome 17q corresponding to aggressive tumors and poor patient prognosis. Located within the 17q-gained chromosomal segments is PPM1D at chromosome 17

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=multidiscipl::22759e6bdb432ed205bc1baeedcf8942

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PPM1D Is a Therapeutic Target in Childhood Neural Tumors

Autor: Jelena Milosevic, Diana Treis, Susanne Fransson, Gabriel Gallo-Oller, Baldur Sveinbjörnsson, Nina Eissler, Keiji Tanino, Kazuyasu Sakaguchi, Tommy Martinsson, Malin Wickström, Per Kogner, John Inge Johnsen

Publikováno v: Cancers
Cancers, Vol 13, Iss 6042, p 6042 (2021)

Simple Summary Medulloblastoma and neuroblastoma are childhood tumors of the central nervous system or the peripheral nervous system, respectively. These are the most common and deadly tumors of childhood. A common genetic feature of medulloblastoma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a8d84050e9449441681474ab925a196d
http://europepmc.org/articles/PMC8657050

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The ENaC-overexpressing mouse as a model of cystic fibrosis lung disease

Autor: Susanne C. Schubert, Simon Y. Graeber, Maria Harm, Carsten Schultz, Zhe Zhou, Diana Treis, Marcus A. Mall, Alexander H. Dalpke, Julia Duerr, Bjarki Johannesson

Publikováno v: Journal of Cystic Fibrosis. 10:S172-S182

Chronic lung disease remains the major cause of morbidity and mortality of cystic fibrosis (CF) patients. Cftr mutant mice developed severe intestinal obstruction, but did not exhibit the characteristic CF ion transport defects (i.e. deficient cAMP-d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::417fbfe43a5d967f884970d73eeb05d3

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Preventive but Not Late Amiloride Therapy Reduces Morbidity and Mortality of Lung Disease in βENaC-overexpressing Mice

Autor: Stephanie Hirtz, Zhe Zhou, Marcus A. Mall, Maria Harm, Jolanthe Schatterny, Diana Treis, Julia Duerr, Richard C. Boucher, Susanne C. Schubert

Publikováno v: American Journal of Respiratory and Critical Care Medicine. 178:1245-1256

Rationale: Increased airway Na+ absorption mediated by epithelial Na1 channels (ENaC) is a characteristic abnormality in the pathogenesis of cystic fibrosis (CF) lung disease. However, inhalation therapy with the ENaC blocker amiloride did not have t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0c59cf63675151c34564e5411659028
https://doi.org/10.1164/rccm.200803-442oc

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