Rare variants in the Aicardi-Goutieres syndrome genes ADAR and RNASEH2B and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis

被引：0

作者：

Brand, F. ^{[1
]}

Beyer, U. ^{[1
]}

Martens, H. ^{[1
]}

Weder, J. ^{[2
]}

Christians, A. ^{[3
]}

Elyan, N. ^{[1
]}

Hentschel, B. ^{[4
]}

Westphal, M. ^{[5
]}

Schackert, G. ^{[6
]}

Pietsch, T. ^{[7
]}

Hong, B. ^{[8
]}

Krauss, J. K. ^{[8
]}

Samii, A. ^{[9
]}

Raab, P. ^{[10
]}

Das, A. ^{[11
]}

Dumitru, C. A. ^{[12
]}

Sandalcioglu, I. E. ^{[12
]}

Hakenberg, O. W. ^{[13
]}

Erbersdobler, A. ^{[14
]}

Lehmann, U. ^{[15
]}

Reifenberger, G. ^{[16
]}

Weller, M. ^{[17
,18
]}

Reijns, M. A. M. ^{[19
]}

Preller, M. ^{[2
]}

Wiese, B. ^{[20
]}

Hartmann, C.

Weber, R. G. ^{[1
]}

机构：

[1] Hannover Med Sch, Dept Human Genet, Hannover, Germany

[2] Hannover Med Sch, Inst Biophys Chem, Hannover, Germany

[3] Hannover Med Sch, Div Neuropathol, Hannover, Germany

[4] Univ Leipzig, Inst Med Informat Stat & Epidemiol, Leipzig, Germany

[5] Univ Med Ctr Hamburg Eppendorf, Dept Neurosurg, Hamburg, Germany

[6] Tech Univ Dresden, Dept Neurosurg, Dresden, Germany

[7] Univ Bonn, Med Sch, Dept Neuropathol, Bonn, Germany

[8] Hannover Med Sch, Dept Neurosurg, Hannover, Germany

[9] Int Neurosci Inst, Dept Neurosurg, Hannover, Germany

[10] Hannover Med Sch, Dept Neuroradiol, Hannover, Germany

[11] Hannover Med Sch, Dept Pediat Kidney Liver & Metab Dis, Hannover, Germany

[12] Nordstadt Hosp, Dept Neurosurg, Hannover, Germany

[13] Univ Rostock, Dept Urol, Rostock, Germany

[14] Univ Rostock, Dept Pathol, Rostock, Germany

[15] Hannover Med Sch, Dept Pathol, Hannover, Germany

[16] Heinrich Heine Univ, Dept Neuropathol, Dusseldorf, Germany

[17] Univ Hosp, Zurich, Switzerland

[18] Univ Zurich, Dept Neurol, Zurich, Switzerland

[19] Univ Edinburgh, Med Res Council, Human Genet Unit, MRC Inst Genet & Mol Med, Edinburgh, Midlothian, Scotland

[20] Diakovere Hosp, Dept Neurol, Henriettenstift, Hannover, Germany

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

C14.6

引用

页码：829 / 830

页数：2

共 18 条

[1] Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis
Beyer, Ulrike
Brand, Frank
Martens, Helge
Weder, Julia
Christians, Arne
Elyan, Natalie
Hentschel, Bettina
Westphal, Manfred
Schackert, Gabriele
Pietsch, Torsten
Hong, Bujung
Krauss, Joachim K.
Samii, Amir
Raab, Peter
Das, Anibh
Dumitru, Claudia A.
Sandalcioglu, I. Erol
Hakenberg, Oliver W.
Erbersdobler, Andreas
Lehmann, Ulrich
Reifenberger, Guido
Weller, Michael
Reijns, Martin A. M.
Preller, Matthias
Wiese, Bettina
Hartmann, Christian
Weber, Ruthild G.
ACTA NEUROPATHOLOGICA, 2017, 134 (06) : 905 - 922
[2] Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis
Ulrike Beyer
Frank Brand
Helge Martens
Julia Weder
Arne Christians
Natalie Elyan
Bettina Hentschel
Manfred Westphal
Gabriele Schackert
Torsten Pietsch
Bujung Hong
Joachim K. Krauss
Amir Samii
Peter Raab
Anibh Das
Claudia A. Dumitru
I. Erol Sandalcioglu
Oliver W. Hakenberg
Andreas Erbersdobler
Ulrich Lehmann
Guido Reifenberger
Michael Weller
Martin A. M. Reijns
Matthias Preller
Bettina Wiese
Christian Hartmann
Ruthild G. Weber
Acta Neuropathologica, 2017, 134 : 905 - 922
[3] Homozygous RNASEH2B Mutation Cause Aicardi-Goutieres Syndrome
Canbek, Sezin
EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 204 - 204
[4] Characterization of Mitochondrial Alterations in Aicardi-Goutieres Patients Mutated in RNASEH2A and RNASEH2B Genes
Dragoni, Francesca
Garau, Jessica
Sproviero, Daisy
Orcesi, Simona
Varesio, Costanza
De Siervi, Silvia
Gagliardi, Stella
Cereda, Cristina
Pansarasa, Orietta
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (22)
[5] Aicardi-Goutieres syndrome: a family case due to alteration of the RNASEH2B gene
Viguera-Elias, Diego
de la Iglesia-Nagore, Inaki
Toledo-Gotor, Cristina
Dominguez-Garrido, Elena
Luisa Poch-Olive, M.
REVISTA DE NEUROLOGIA, 2021, 72 (11) : 407 - 409
[6] Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutieres syndrome
Leung, Marco L.
Woodhull, Whitney
Uggenti, Carolina
Schord, Shauna
Mato, Raul Perez
Rodriguez, Diana P.
Ream, Margie
Mori, Mari
Crow, Yanick J.
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2023, 66 (04)
[7] Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature
Rice, Gillian I.
Kasher, Paul R.
Forte, Gabriella M. A.
Mannion, Niamh M.
Greenwood, Sam M.
Szynkiewicz, Marcin
Dickerson, Jonathan E.
Bhaskar, Sanjeev S.
Zampini, Massimiliano
Briggs, Tracy A.
Jenkinson, Emma M.
Bacino, Carlos A.
Battini, Roberta
Bertini, Enrico
Brogan, Paul A.
Brueton, Louise A.
Carpanelli, Marialuisa
De Laet, Corinne
de Lonlay, Pascale
del Toro, Mireia
Desguerre, Isabelle
Fazzi, Elisa
Garcia-Cazorla, Angels
Heiberg, Arvid
Kawaguchi, Masakazu
Kumar, Ram
Lin, Jean-Pierre S-M
Lourenco, Charles M.
Male, Alison M.
Marques, Wilson, Jr.
Mignot, Cyril
Olivieri, Ivana
Orcesi, Simona
Prabhakar, Prab
Rasmussen, Magnhild
Robinson, Robert A.
Rozenberg, Flore
Schmidt, Johanna L.
Steindl, Katharina
Tan, Tiong Y.
van der Merwe, William G.
Vanderver, Adeline
Vassallo, Grace
Wakeling, Emma L.
Wassmer, Evangeline
Whittaker, Elizabeth
Livingston, John H.
Lebon, Pierre
Suzuki, Tamio
McLaughlin, Paul J.
NATURE GENETICS, 2012, 44 (11) : 1243 - 1248
[8] Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi-Goutieres Syndrome
Garau, Jessica
Masnada, Silvia
Dragoni, Francesca
Sproviero, Daisy
Fogolari, Federico
Gagliardi, Stella
Izzo, Giana
Varesio, Costanza
Orcesi, Simona
Veggiotti, Pierangelo
Zuccotti, Gian Vincenzo
Pansarasa, Orietta
Tonduti, Davide
Cereda, Cristina
FRONTIERS IN IMMUNOLOGY, 2021, 12
[9] Molecular characterization of a novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome
Samaan, S.
Valence, S.
Renaldo, F.
Maalouf, C.
Dorboz, I.
Boussaid, K.
Elmaleh, M.
Rice, G.
Boespflug-Tanguy, O.
Crow, Y.
Rodriguez, D.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 249 - 249
[10] A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands
Ostergaard, Elsebet
Joensen, Frodi
Sundberg, Karin
Duno, Morten
Hansen, Flemming J.
Batbayli, Mustafa
Sorensen, Nicolina
Born, Alfred Peter
ACTA PAEDIATRICA, 2012, 101 (11) : e509 - e513

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