A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

被引：119

作者：

Merienne, K

Jacquot, S

Pannetier, S

Zeniou, M

Bankier, A

Gecz, J

Mandel, JL

Mulley, J

Sassone-Corsi, P

Hanauer, A ^{[1
]}

机构：

[1] ULP, CNRS, INSERM, Inst Genet & Biol Mol & Cellulaire, F-67404 Illkirch, CU Strasbourg, France

[2] Murdoch Inst, Victorian Clin Genet Serv, Royal Childrens Hosp Genet Clin, Melbourne, Vic, Australia

[3] Womens & Childrens Hosp, Ctr Med Genet, Dept Cytogenet & Mol Genet, Adelaide, SA, Australia

[4] Univ Adelaide, Dept Genet, Adelaide, SA, Australia

[5] Univ Adelaide, Dept Paediat, Adelaide, SA, Australia

来源：

NATURE GENETICS | 1999年 / 22卷 / 01期

关键词：

D O I：

10.1038/8719

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：13 / 14

页数：2

共 15 条

[1] CHOO KH, 1984, LANCET, V11, P349
[2] Identification of regulatory phosphorylation sites in mitogen-activated protein kinase (MAPK)-activated protein kinase-1a/p90rsk that are inducible by MAPK
Dalby, KN
Morrice, N
Caudwell, FB
Avruch, J
Cohen, P
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1998, 273 (03) : 1496 - 1505
[3] Rsk-2 activity is necessary for epidermal growth factor-induced phosphorylation of CREB protein and transcription of c-fos gene
De Cesare, D
Jacquot, S
Hanauer, A
Sassone-Corsi, P
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (21) : 12202 - 12207
[4] REGIONAL LOCALIZATION OF A NONSPECIFIC X-LINKED MENTAL-RETARDATION GENE (MRX19) TO XP22
DONNELLY, AJ
CHOO, KHA
KOZMAN, HM
GEDEON, AK
DANKS, DM
MULLEY, JC
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 51 (04): : 581 - 585
[5] NONSPECIFIC X-LINKED MENTAL-RETARDATION - LINKAGE ANALYSIS IN MRX2 AND MRX4 FAMILIES REVISITED
HU, LJ
BLUMENFELDHEYBERGER, S
HANAUER, A
WEISSENBACH, J
MANDEL, JL
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 51 (04): : 569 - 574
[6] Mutation analysis of the RSK2 gene in Coffin-Lowry patients: Extensive allelic heterogeneity and a high rate of de novo mutations
Jacquot, S
Merienne, K
De Cesare, D
Pannetier, S
Mandel, JL
Sassone-Corsi, P
Hanauer, A
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (06) : 1631 - 1640
[7] STRUCTURE, LOCALIZATION AND TRANSCRIPTIONAL PROPERTIES OF 2 CLASSES OF RETINOIC ACID RECEPTOR-ALPHA FUSION PROTEINS IN ACUTE PROMYELOCYTIC LEUKEMIA (APL) - STRUCTURAL SIMILARITIES WITH A NEW FAMILY OF ONCOPROTEINS
KASTNER, P
PEREZ, A
LUTZ, Y
ROCHETTEEGLY, C
GAUB, MP
DURAND, B
LANOTTE, M
BERGER, R
CHAMBON, P
[J]. EMBO JOURNAL, 1992, 11 (02) : 629 - 642
[8] MAPPING OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION - EVIDENCE FOR LINKAGE TO CHROMOSOMAL REGION XP21.1-XP22.3
KOZAK, L
CHIURAZZI, P
GENUARDI, M
POMPONI, MG
ZOLLINO, M
NERI, G
[J]. JOURNAL OF MEDICAL GENETICS, 1993, 30 (10) : 866 - 869
[9] Lubs HA, 1996, AM J MED GENET, V64, P147, DOI 10.1002/(SICI)1096-8628(19960712)64:1<147::AID-AJMG25>3.0.CO
[10] 2-M

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