Computational biology to the rescue: the ongoing quest to understand Bardet-Biedl syndrome

被引：1

作者：

Bhogal, AK

Leavitt, BR

机构：

来源：

CLINICAL GENETICS | 2004年 / 66卷 / 04期

关键词：

D O I：

10.1111/j.1399-0004.2004.00347c.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：296 / 298

页数：3

共 10 条

[1] Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome [J].

Ansley, SJ ;

Badano, JL ;

Blacque, OE ;

Hill, J ;

Hoskins, BE ;

Leitch, CC ;

Kim, JC ;

Ross, AJ ;

Eichers, ER ;

Teslovich, TM ;

Mah, AK ;

Johnsen, RC ;

Cavender, JC ;

Lewis, RA ;

Leroux, MR ;

Beales, PL ;

Katsanis, N .

NATURE, 2003, 425 (6958) :628-633

[2] Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2 [J].

Badano, JL ;

Ansley, SJ ;

Leitch, CC ;

Lewis, RA ;

Lupski, JR ;

Katsanis, N .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (03) :650-658

[3] Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder [J].

Katsanis, N ;

Ansley, SJ ;

Badano, JL ;

Eichers, ER ;

Lewis, RA ;

Hoskins, BE ;

Scambler, PJ ;

Davidson, WS ;

Beales, PL ;

Lupski, JR .

SCIENCE, 2001, 293 (5538) :2256-2259

[4] Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome [J].

Katsanis, N ;

Beales, PL ;

Woods, MO ;

Lewis, RA ;

Green, JS ;

Parfrey, PS ;

Ansley, SJ ;

Davidson, WS ;

Lupski, JR .

NATURE GENETICS, 2000, 26 (01) :67-70

[5] The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression [J].

Kim, JC ;

Badano, JL ;

Sibold, S ;

Esmail, MA ;

Hill, J ;

Hoskins, BE ;

Leitch, CC ;

Venner, K ;

Ansley, SJ ;

Ross, AJ ;

Leroux, MR ;

Katsanis, N ;

Beales, PL .

NATURE GENETICS, 2004, 36 (05) :462-470

[6]

LI, 2004, CELL, V117, P541

[7] Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome [J].

Mykytyn, K ;

Nishimura, DY ;

Searby, CC ;

Shastri, M ;

Yen, HJ ;

Beck, JS ;

Braun, T ;

Streb, LM ;

Cornier, AS ;

Cox, GF ;

Fulton, AB ;

Carmi, R ;

Lüleci, G ;

Chandrasekharappa, SC ;

Collins, FS ;

Jacobson, SG ;

Heckenlively, JR ;

Weleber, RG ;

Stone, EM ;

Sheffield, VC .

NATURE GENETICS, 2002, 31 (04) :435-438

[8] Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2) [J].

Nishimura, DY ;

Searby, CC ;

Carmi, R ;

Elbedour, K ;

Van Maldergem, L ;

Fulton, AB ;

Lam, BL ;

Powell, BR ;

Swiderski, RE ;

Bugge, KE ;

Haider, NB ;

Kwitek-Black, AE ;

Ying, LH ;

Duhl, DM ;

Gorman, SW ;

Heon, E ;

Iannaccone, A ;

Bonneau, D ;

Biesecker, LG ;

Jacobson, SG ;

Stone, EM ;

Sheffield, VC .

HUMAN MOLECULAR GENETICS, 2001, 10 (08) :865-874

[9]

Young TL, 1998, AM J MED GENET, V78, P461, DOI 10.1002/(SICI)1096-8628(19980806)78:5<461::AID-AJMG12>3.0.CO

[10]

2-D

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