SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

被引：0

作者：

Chantal Stoepker

Karolina Hain

Beatrice Schuster

Yvonne Hilhorst-Hofstee

Martin A Rooimans

Jurgen Steltenpool

Anneke B Oostra

Katharina Eirich

Elisabeth T Korthof

Aggie W M Nieuwint

Nicolaas G J Jaspers

Thomas Bettecken

Hans Joenje

Detlev Schindler

John Rouse

Johan P de Winter

机构：

[1] Vrije Universiteit (VU) Medical Center,Department of Clinical Genetics

[2] Medical Research Council Protein Phosphorylation Unit,Department of Human Genetics

[3] College of Life Sciences,Department of Clinical Genetics

[4] University of Dundee,Department of Genetics

[5] Dundee,undefined

[6] Scotland,undefined

[7] UK.,undefined

[8] University of Wuerzburg,undefined

[9] Biozentrum,undefined

[10] Wuerzburg,undefined

[11] Germany.,undefined

[12] Leiden University Medical Center,undefined

[13] Erasmus Medical Center,undefined

[14] Center for Applied Genotyping Munich,undefined

[15] Max-Planck-Institut für Psychiatrie,undefined

来源：

Nature Genetics | 2011年 / 43卷

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摘要：

Johan P de Winter and colleagues report the identification of mutations in SLX4 in a new Fanconi anemia subtype. SLX4 regulates structure-specific endonucleases, important enzymes in the DNA damage response.

引用

页码：138 / 141

页数：3

共 21 条

[1] SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype
Stoepker, Chantal
Hain, Karolina
Schuster, Beatrice
Hilhorst-Hofstee, Yvonne
Rooimans, Martin A.
Steltenpool, Jurgen
Oostra, Anneke B.
Eirich, Katharina
Korthof, Elisabeth T.
Nieuwint, Aggie W. M.
Jaspers, Nicolaas G. J.
Bettecken, Thomas
Joenje, Hans
Schindler, Detlev
Rouse, John
de Winter, Johan P.
NATURE GENETICS, 2011, 43 (02) : 138 - U85
[2] Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia
Gerry P Crossan
Louise van der Weyden
Ivan V Rosado
Frederic Langevin
Pierre-Henri L Gaillard
Rebecca E McIntyre
Ferdia Gallagher
Mikko I Kettunen
David Y Lewis
Kevin Brindle
Mark J Arends
David J Adams
Ketan J Patel
Nature Genetics, 2011, 43 : 147 - 152
[3] Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia
Crossan, Gerry P.
van der Weyden, Louise
Rosado, Ivan V.
Langevin, Frederic
Gaillard, Pierre-Henri L.
McIntyre, Rebecca E.
Project, Sanger Mouse Genetics
Gallagher, Ferdia
Kettunen, Mikko I.
Lewis, David Y.
Brindle, Kevin
Arends, Mark J.
Adams, David J.
Patel, Ketan J.
NATURE GENETICS, 2011, 43 (02) : 147 - U99
[4] Cancel all Hollidays for SLX4 mutations: identification of a new Fanconi anemia subtype, FANCP
Kang, M. H.
CLINICAL GENETICS, 2011, 80 (01) : 28 - 30
[5] Mutations of the SLX4 gene in Fanconi anemia
Kim, Yonghwan
Lach, Francis P.
Desetty, Rohini
Hanenberg, Helmut
Auerbach, Arleen D.
Smogorzewska, Agata
NATURE GENETICS, 2011, 43 (02) : 142 - U91
[6] Mutations of the SLX4 gene in Fanconi anemia
Yonghwan Kim
Francis P Lach
Rohini Desetty
Helmut Hanenberg
Arleen D Auerbach
Agata Smogorzewska
Nature Genetics, 2011, 43 : 142 - 146
[7] A novel function of Slx4, structure-specific endonuclease regulator subunit, in meiotic prophase
Higashide, Mika
Shinohara, Akira
Shinohara, Miki
GENES & GENETIC SYSTEMS, 2013, 88 (06) : 375 - 375
[8] Distinct functional roles for the two SLX4 ubiquitin-binding UBZ domains mutated in Fanconi anemia
Lachaud, Christophe
Castor, Dennis
Hain, Karolina
Munoz, Ivan
Wilson, Jamie
MacArtney, Thomas J.
Schindler, Detlev
Rouse, John
JOURNAL OF CELL SCIENCE, 2014, 127 (13) : 2811 - 2817
[9] Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4
Kim, Yonghwan
Spitz, Gabriella S.
Veturi, Uma
Lach, Francis P.
Auerbach, Arleen D.
Smogorzewska, Agata
BLOOD, 2013, 121 (01) : 54 - 63
[10] Case Report: A Novel Homozygous Variant in the SLX4 Gene Causes Fanconi Anemia
Eisazaei, Sepideh
Naderi, Majid
Tamandani, Dor Mohammad Kordi
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2025, 29 (01) : 7 - 11

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