DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome

被引：31

作者：

Correa-Cerro, LS

Wassif, CA

Waye, JS

Krakowiak, PA

Cozma, D

Dobson, NR

Levin, SW

Anadiotis, G

Steiner, RD

Krajewska-Walasek, M

Nowaczyk, MJM

Porter, FD

机构：

[1] NICHD, Heritable Disorders Branch, NIH, DHHS,Unit Mol Dysmorphol, Bethesda, MD 20892 USA

[2] McMaster Univ, Dept Pathol & Mol Med & Pediat, Hamilton, ON, Canada

[3] Natl Naval Med Ctr, Dept Pediat, Bethesda, MD USA

[4] Walter Reed Army Med Ctr, Dept Pediat, Washington, DC 20307 USA

[5] Legacy Childrens Hosp, Portland, OR USA

[6] Oregon Hlth & Sci Univ, Doernbecher Childrens Hosp, Child Dev Rehabil Ctr, Dept Pediat, Portland, OR USA

[7] Oregon Hlth & Sci Univ, Doernbecher Childrens Hosp, Child Dev Rehabil Ctr, Dept Mol & Med Genet, Portland, OR USA

[8] Childrens Mem Hlth Inst, Dept Med Genet, Warsaw, Poland

来源：

JOURNAL OF MEDICAL GENETICS | 2005年 / 42卷 / 04期

关键词：

D O I：

10.1136/jmg.2004.022749

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：350 / 357

页数：8

共 40 条

[1] Carrier frequency of the common mutation IVS8-IG>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome [J].

Battaile, KP ;

Battaile, BC ;

Merkens, LS ;

Maslen, CL ;

Steiner, RD .

MOLECULAR GENETICS AND METABOLISM, 2001, 72 (01) :67-71

[2]

CHAM BE, 1976, J LIPID RES, V17, P176

[3] Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis [J].

Clancy, JP ;

Bobök, Z ;

Ruiz, F ;

King, C ;

Jones, J ;

Walker, L ;

Greer, H ;

Hong, J ;

Wing, L ;

Macaluso, M ;

Lyrene, R ;

Sorscher, EJ ;

Bedwell, DM .

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2001, 163 (07) :1683-1692

[4] A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis [J].

Cooper, MK ;

Wassif, CA ;

Krakowiak, PA ;

Taipale, J ;

Gong, RY ;

Kelley, RI ;

Porter, FD ;

Beachy, PA .

NATURE GENETICS, 2003, 33 (04) :508-513

[5]

de Jong G, 1998, AM J MED GENET, V75, P283, DOI 10.1002/(SICI)1096-8628(19980123)75:3<283::AID-AJMG11>3.0.CO

[6]

2-L

[7] Mutations in the Δ7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome [J].

Fitzky, BU ;

Witsch-Baumgartner, M ;

Erdel, M ;

Lee, JN ;

Paik, YK ;

Glossmann, H ;

Utermann, G ;

Moebius, FF .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (14) :8181-8186

[8] Nonsense-mediated mRNA decay in health and disease [J].

Frischmeyer, PA ;

Dietz, HC .

HUMAN MOLECULAR GENETICS, 1999, 8 (10) :1893-1900

[9] When should Smith-Lemli-Opitz syndrome be considered? A serie of 45 cases [J].

Goldenberg, A ;

Chevy, F ;

Bernard, C ;

Wolf, C ;

Cormier-Daire, V .

ARCHIVES DE PEDIATRIE, 2003, 10 (01) :4-10

[10] Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations [J].

Howard, M ;

Frizzell, DM ;

Bedwell, DM .

NATURE MEDICINE, 1996, 2 (04) :467-469

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