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Pregled bibliografske jedinice broj: 715461

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Lessel, Davor; Vaz, Bruno; Halder, Swagata; Lockhart, Paul J.; Marinović-Terzić, Ivana; Lopez-Mosqueda, Jaime; Philipp, Melanie; Sim, Joe C.H.; Smith, Katherine R.; Oehler, Judith et al.
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features // Nature genetics, 46 (2014), 11; 1239-1244 doi:10.1038/ng.3103 (međunarodna recenzija, članak, znanstveni)

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Naslov
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Autori
Lessel, Davor ; Vaz, Bruno ; Halder, Swagata ; Lockhart, Paul J. ; Marinović-Terzić, Ivana ; Lopez-Mosqueda, Jaime ; Philipp, Melanie ; Sim, Joe C.H. ; Smith, Katherine R. ; Oehler, Judith ; Cabrera, Elisa ; Freire, Raimundo ; Pope, Kate ; Nahid, Amsha ; Norris, Fiona ; Leventer, Richard J. ; Delatycki, Martin B. ; Barbi, Gotthold ; von Ameln, Simon ; Högel, Josef ; Degoricija, Marina ; Fertig, Regina ; Burkhalter, Martin D. ; Hofmann, Kay ; Thiele, Holger ; Altmüller, Janine ; Nürnberg, Gudrun ; Nürnberg, Peter ; Bahlo, Melanie ; Martin, George M. ; Aalfs, Cora M. ; Oshima, Junko ; Terzić, Janoš ; Amor, David J. ; Đikić, Ivan ; Ramadan, Kristijan ; Kubisch, Christian

Izvornik
Nature genetics (1061-4036) 46 (2014), 11; 1239-1244

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
hepatocellular carcinoma; progeria; DVC1; DNA repair; Spartan; genomic instability

Sažetak
Age-related degenerative and malignant diseases represent major challenges for health care systems. Elucidation of the molecular mechanisms underlying carcinogenesis and age-associated pathologies is thus of growing biomedical relevance. We identified biallelic germline mutations in SPRTN (also called C1orf124 or DVC1) in three patients from two unrelated families. All three patients are affected by a new segmental progeroid syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma. SPRTN was recently proposed to have a function in translesional DNA synthesis and the prevention of mutagenesis. Our in vivo and in vitro characterization of identified mutations has uncovered an essential role for SPRTN in the prevention of DNA replication stress during general DNA replication and in replication-related G2/M-checkpoint regulation. In addition to demonstrating the pathogenicity of identified SPRTN mutations, our findings provide a molecular explanation of how SPRTN dysfunction causes accelerated aging and susceptibility toward carcinoma.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA

Projekti:
216-0000000-3348 - ULOGA UPALNIH PROCESA U NASTANKU MALIGNIH TUMORA (Terzić, Janoš, MZOS ) ( CroRIS)

Ustanove:
Medicinski fakultet, Split

Profili:

Avatar Url Marina Degoricija (autor)

Avatar Url Kristijan Ramadan (autor)

Avatar Url Ivana Marinović Terzić (autor)

Avatar Url Janoš Terzić (autor)

Avatar Url Ivan Đikić (autor)

Poveznice na cjeloviti tekst rada:

doi www.nature.com

Citiraj ovu publikaciju:

Lessel, Davor; Vaz, Bruno; Halder, Swagata; Lockhart, Paul J.; Marinović-Terzić, Ivana; Lopez-Mosqueda, Jaime; Philipp, Melanie; Sim, Joe C.H.; Smith, Katherine R.; Oehler, Judith et al.
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features // Nature genetics, 46 (2014), 11; 1239-1244 doi:10.1038/ng.3103 (međunarodna recenzija, članak, znanstveni)
Lessel, D., Vaz, B., Halder, S., Lockhart, P., Marinović-Terzić, I., Lopez-Mosqueda, J., Philipp, M., Sim, J., Smith, K. & Oehler, J. (2014) Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nature genetics, 46 (11), 1239-1244 doi:10.1038/ng.3103.
@article{article, author = {Lessel, Davor and Vaz, Bruno and Halder, Swagata and Lockhart, Paul J. and Marinovi\'{c}-Terzi\'{c}, Ivana and Lopez-Mosqueda, Jaime and Philipp, Melanie and Sim, Joe C.H. and Smith, Katherine R. and Oehler, Judith and Cabrera, Elisa and Freire, Raimundo and Pope, Kate and Nahid, Amsha and Norris, Fiona and Leventer, Richard J. and Delatycki, Martin B. and Barbi, Gotthold and von Ameln, Simon and H\"{o}gel, Josef and Degoricija, Marina and Fertig, Regina and Burkhalter, Martin D. and Hofmann, Kay and Thiele, Holger and Altm\"{u}ller, Janine and N\"{u}rnberg, Gudrun and N\"{u}rnberg, Peter and Bahlo, Melanie and Martin, George M. and Aalfs, Cora M. and Oshima, Junko and Terzi\'{c}, Jano\v{s} and Amor, David J. and \DJiki\'{c}, Ivan and Ramadan, Kristijan and Kubisch, Christian}, year = {2014}, pages = {1239-1244}, DOI = {10.1038/ng.3103}, keywords = {hepatocellular carcinoma, progeria, DVC1, DNA repair, Spartan, genomic instability}, journal = {Nature genetics}, doi = {10.1038/ng.3103}, volume = {46}, number = {11}, issn = {1061-4036}, title = {Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features}, keyword = {hepatocellular carcinoma, progeria, DVC1, DNA repair, Spartan, genomic instability} }
@article{article, author = {Lessel, Davor and Vaz, Bruno and Halder, Swagata and Lockhart, Paul J. and Marinovi\'{c}-Terzi\'{c}, Ivana and Lopez-Mosqueda, Jaime and Philipp, Melanie and Sim, Joe C.H. and Smith, Katherine R. and Oehler, Judith and Cabrera, Elisa and Freire, Raimundo and Pope, Kate and Nahid, Amsha and Norris, Fiona and Leventer, Richard J. and Delatycki, Martin B. and Barbi, Gotthold and von Ameln, Simon and H\"{o}gel, Josef and Degoricija, Marina and Fertig, Regina and Burkhalter, Martin D. and Hofmann, Kay and Thiele, Holger and Altm\"{u}ller, Janine and N\"{u}rnberg, Gudrun and N\"{u}rnberg, Peter and Bahlo, Melanie and Martin, George M. and Aalfs, Cora M. and Oshima, Junko and Terzi\'{c}, Jano\v{s} and Amor, David J. and \DJiki\'{c}, Ivan and Ramadan, Kristijan and Kubisch, Christian}, year = {2014}, pages = {1239-1244}, DOI = {10.1038/ng.3103}, keywords = {hepatocellular carcinoma, progeria, DVC1, DNA repair, Spartan, genomic instability}, journal = {Nature genetics}, doi = {10.1038/ng.3103}, volume = {46}, number = {11}, issn = {1061-4036}, title = {Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features}, keyword = {hepatocellular carcinoma, progeria, DVC1, DNA repair, Spartan, genomic instability} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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