How clinicians add to knowledge of development

被引：11

作者：

Donnai, D ^{[1
]}

Read, AP

机构：

[1] Univ Manchester, Acad Unit Med Genet, Manchester M13 0JH, Lancs, England

[2] Cent Manchester & Manchester Childrens Univ Hosp, St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, England

来源：

LANCET | 2003年 / 362卷 / 9382期

关键词：

D O I：

10.1016/S0140-6736(03)14076-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Studies of human birth defects and developmental disorders have made major contributions to our understanding of development. Rare human syndromes have allowed identification of important developmental genes, and revealed mechanisms such as uniparental disomy and unstable trinucleotide repeats that were not suspected from animal studies. Some aspects of development, in particular cognitive development, can only be studied in human beings. Basic developmental mechanisms are very highly conserved across a very wide range of animals, making for a rich interplay between animal and human studies. Often, clinical studies identify a gene, or suggest a hypothesis, that can then be investigated in animals.

引用

页码：477 / 484

页数：8

共 71 条

[1] A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family [J].

Abdelhak, S ;

Kalatzis, V ;

Heilig, R ;

Compain, S ;

Samson, D ;

Vincent, C ;

Weil, D ;

Cruaud, C ;

Sahly, I ;

Leibovici, M ;

BitnerGlindzicz, M ;

Francis, M ;

Lacombe, D ;

Vigneron, J ;

Charachon, R ;

Boven, K ;

Bedbeder, P ;

VanRegemorter, N ;

Weissenbach, J ;

Petit, C .

NATURE GENETICS, 1997, 15 (02) :157-164

[2]

[Anonymous], OMIM ONLINE MENDELIA

[3]

ANTONARAKIS SE, 2002, PRINCIPLES PRACTICE, P86

[4] IDENTIFICATION OF MUTATIONS IN THE COL4A5 COLLAGEN GENE IN ALPORT SYNDROME [J].

BARKER, DF ;

HOSTIKKA, SL ;

ZHOU, J ;

CHOW, LT ;

OLIPHANT, AR ;

GERKEN, SC ;

GREGORY, MC ;

SKOLNICK, MH ;

ATKIN, CL ;

TRYGGVASON, K .

SCIENCE, 1990, 248 (4960) :1224-1227

[5] Molecular cell biology of Charcot-Marie-Tooth disease [J].

Berger, P ;

Young, P ;

Suter, U .

NEUROGENETICS, 2002, 4 (01) :1-15

[6] ASPM is a major determinant of cerebral cortical size [J].

Bond, J ;

Roberts, E ;

Mochida, GH ;

Hampshire, DJ ;

Scott, S ;

Askham, JM ;

Springell, K ;

Mahadevan, M ;

Crow, YJ ;

Markham, AF ;

Walsh, CA ;

Woods, CG .

NATURE GENETICS, 2002, 32 (02) :316-320

[7] Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway [J].

Brown, KW ;

Villar, AJ ;

Bickmore, W ;

ClaytonSmith, J ;

Catchpoole, D ;

Maher, ER ;

Reik, W .

HUMAN MOLECULAR GENETICS, 1996, 5 (12) :2027-2032

[8] The mouse: Genetics meets behaviour [J].

Bucan, M ;

Abel, T .

NATURE REVIEWS GENETICS, 2002, 3 (02) :114-123

[9] INHERITED MICRODELETIONS IN THE ANGELMAN AND PRADER-WILLI SYNDROMES DEFINE AN IMPRINTING CENTER ON HUMAN-CHROMOSOME-15 [J].

BUITING, K ;

SAITOH, S ;

GROSS, S ;

DITTRICH, B ;

SCHWARTZ, S ;

NICHOLLS, RD ;

HORSTHEMKE, B .

NATURE GENETICS, 1995, 9 (04) :395-400

[10] Collagens: building blocks at the end of the development line [J].

Byers, PH .

CLINICAL GENETICS, 2000, 58 (04) :270-279

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