RSH/Smith-Lemli-Opitz syndrome: Mutations and metabolic morphogenesis

被引:54
作者
Kelley, RI
机构
[1] Johns Hopkins Univ, Sch Med, Kennedy Krieger Inst, Baltimore, MD 21205 USA
[2] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA
关键词
D O I
10.1086/301987
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:322 / 326
页数:5
相关论文
共 44 条
[31]   THE PRODUCT OF HEDGEHOG AUTOPROTEOLYTIC CLEAVAGE ACTIVE IN LOCAL AND LONG-RANGE SIGNALING [J].
PORTER, JA ;
VONKESSLER, DP ;
EKKER, SC ;
YOUNG, KE ;
LEE, JJ ;
MOSES, K ;
BEACHY, PA .
NATURE, 1995, 374 (6520) :363-366
[32]   Cholesterol modification of hedgehog signaling proteins in animal development [J].
Porter, JA ;
Young, KE ;
Beachy, PA .
SCIENCE, 1996, 274 (5285) :255-259
[33]   Hedgehog patterning activity: Role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain [J].
Porter, JA ;
Ekker, SC ;
Park, WJ ;
vonKessler, DP ;
Young, KE ;
Chen, CH ;
Ma, Y ;
Woods, AS ;
Cotter, RJ ;
Koonin, EV ;
Beachy, PA .
CELL, 1996, 86 (01) :21-34
[34]   Mutations in the human Sonic hedgehog gene cause holoprosencephaly [J].
Roessler, E ;
Belloni, E ;
Gaudenz, K ;
Jay, P ;
Berta, P ;
Scherer, SW ;
Tsui, LC ;
Muenke, M .
NATURE GENETICS, 1996, 14 (03) :357-360
[35]   SMITH-LEMLI-OPITZ SYNDROME - PRENATAL-DIAGNOSIS BY QUANTIFICATION OF CHOLESTEROL PRECURSORS IN AMNIOTIC-FLUID [J].
ROSSITER, JP ;
HOFMAN, KJ ;
KELLEY, RI .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 56 (03) :272-275
[36]   TERATOGENIC EFFECT OF AN INHIBITOR OF CHOLESTEROL-SYNTHESIS (AY-9944) IN RATS - CORRELATION WITH MATERNAL CHOLESTEROLEMIA [J].
ROUX, C ;
DUPUIS, R ;
HORVATH, C ;
TALBOT, JN .
JOURNAL OF NUTRITION, 1980, 110 (11) :2310-2312
[37]  
ROUX C, 1966, CR SOC BIOL, V160, P1353
[38]   NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES [J].
SMITH, DW ;
LEMLI, L ;
OPITZ, JM .
JOURNAL OF PEDIATRICS, 1964, 64 (02) :210-+
[39]   The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog [J].
Stone, DM ;
Hynes, M ;
Armanini, M ;
Swanson, TA ;
Gu, QM ;
Johnson, RL ;
Scott, MP ;
Pennica, D ;
Goddard, A ;
Phillips, H ;
Noll, M ;
Hooper, JE ;
deSauvage, F ;
Rosenthal, A .
NATURE, 1996, 384 (6605) :129-134
[40]   CORRELATION OF SEVERITY AND OUTCOME WITH PLASMA STEROL LEVELS IN VARIANTS OF THE SMITH-LEMLI-OPITZ SYNDROME [J].
TINT, GS ;
SALEN, G ;
BATTA, AK ;
SHEFER, S ;
IRONS, M ;
ELIAS, ER ;
ABUELO, DN ;
JOHNSON, VP ;
LAMBERT, M ;
LUTZ, R ;
SCHANEN, C ;
MORRIS, CA ;
HOGANSON, G ;
HUGHESBENZIE, R .
JOURNAL OF PEDIATRICS, 1995, 127 (01) :82-87