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SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo
American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2204-2213
Baradaran-Heravi, Alireza
Raams, Anja
Lubieniecka, Joanna
Cho, Kyoung Sang
DeHaai, Kristi A.
Basiratnia, Mitra
Mari, Pierre-Olivier
Xue, Yutong
Rauth, Michael
Olney, Ann Haskins
Shago, Mary
Choi, Kunho
Weksberg, Rosanna A.
Nowaczyk, Malgorzata J.M.
Wang, Weidong
Jaspers, Nicolaas G.J.
Boerkoel, Cornelius F.
2012
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Baradaran-Heravi, Alireza
Raams, Anja
Lubieniecka, Joanna
Cho, Kyoung Sang
DeHaai, Kristi A.
Basiratnia, Mitra
Mari, Pierre-Olivier
Xue, Yutong
Rauth, Michael
Olney, Ann Haskins
Shago, Mary
Choi, Kunho
Weksberg, Rosanna A.
Nowaczyk, Malgorzata J.M.
Wang, Weidong
Jaspers, Nicolaas G.J.
Boerkoel, Cornelius F.
Titel
SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo
Ist Teil von
American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2204-2213
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2012
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
Schimke immuno‐osseous dysplasia (SIOD) is a multisystemic disorder with prominent skeletal, renal, immunological, and ectodermal abnormalities. It is caused by mutations of SMARCAL1 (SWI/SNF‐related, matrix‐associated, actin‐dependent regulator of chromatin, subfamily a‐like 1), which encodes a DNA stress response protein. To determine the relationship of this function to the SIOD phenotype, we profiled the cancer prevalence in SIOD and assessed if defects of nucleotide excision repair (NER) and nonhomologous end joining (NHEJ), respectively, explained the ectodermal and immunological features of SIOD. Finally, we determined if Smarcal1del/del mice had hypersensitivity to irinotecan (CPT‐11), etoposide, and hydroxyurea (HU) and whether exposure to these agents induced features of SIOD. Among 71 SIOD patients, three had non‐Hodgkin lymphoma (NHL) and one had osteosarcoma. We did not find evidence of defective NER or NHEJ; however, Smarcal1‐deficient mice were hypersensitive to several genotoxic agents. Also, CPT‐11, etoposide, and HU caused decreased growth and loss of growth plate chondrocytes. These data, which identify an increased prevalence of NHL in SIOD and confirm hypersensitivity to DNA damaging agents in vivo, provide guidance for the management of SIOD patients. © 2012 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.35532
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3429644
Format
–
Schlagworte
Animals
,
Antineoplastic Combined Chemotherapy Protocols - therapeutic use
,
Cell Line
,
DNA End-Joining Repair
,
DNA Helicases - genetics
,
DNA Repair
,
genotoxic agents
,
Humans
,
In Situ Nick-End Labeling
,
Lymphoma, Non-Hodgkin - drug therapy
,
Lymphoma, Non-Hodgkin - genetics
,
Mice
,
non-Hodgkin lymphoma
,
Schimke immuno-osseous dysplasia
,
T-cell immunodeficiency
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