Is the genetic basis of DiGeorge syndrome in HAND?

被引：11

作者：

Baldini, A ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

来源：

NATURE GENETICS | 1999年 / 21卷 / 03期

关键词：

D O I：

10.1038/6750

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：246 / 247

页数：2

共 17 条

[1] DEPENDENCE OF THYMUS DEVELOPMENT ON DERIVATIVES OF THE NEURAL CREST [J].

BOCKMAN, DE ;

KIRBY, ML .

SCIENCE, 1984, 223 (4635) :498-500

[2] CLONING A BALANCED TRANSLOCATION ASSOCIATED WITH DIGEORGE-SYNDROME AND IDENTIFICATION OF A DISRUPTED CANDIDATE GENE [J].

BUDARF, ML ;

COLLINS, J ;

GONG, WL ;

ROE, B ;

WANG, ZL ;

BAILEY, LC ;

SELLINGER, B ;

MICHAUD, D ;

DRISCOLL, DA ;

EMANUEL, BS .

NATURE GENETICS, 1995, 10 (03) :269-278

[3]

DiGeorge AM, 1968, BIRTH DEFECTS OAS, VIV, P116

[4] Mutation of the angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation [J].

Jiang, YH ;

Armstrong, D ;

Albrecht, U ;

Atkins, CM ;

Noebels, JL ;

Eichele, G ;

Sweatt, JD ;

Beaudet, AL .

NEURON, 1998, 21 (04) :799-811

[5] A PROTEOLYTIC PATHWAY THAT RECOGNIZES UBIQUITIN AS A DEGRADATION SIGNAL [J].

JOHNSON, ES ;

MA, PCM ;

OTA, IM ;

VARSHAVSKY, A .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (29) :17442-17456

[6] UBE3A/E6-AP mutations cause Angelman syndrome [J].

Kishino, T ;

Lalande, M ;

Wagstaff, J .

NATURE GENETICS, 1997, 15 (01) :70-73

[7] Congenital heart defects and 22q11 deletions: which genes count? [J].

Lindsay, EA ;

Baldini, A .

MOLECULAR MEDICINE TODAY, 1998, 4 (08) :350-357

[8] De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome [J].

Matsuura, T ;

Sutcliffe, JS ;

Fang, P ;

Galjaard, RJ ;

Jiang, YH ;

Benton, CS ;

Rommens, JM ;

Beaudet, AL .

NATURE GENETICS, 1997, 15 (01) :74-77

[9] Direct selection of conserved cDNAs from the DiGeorge critical region: Isolation of a novel CDC45-like gene [J].

McKie, JM ;

Wadey, RB ;

Sutherland, HF ;

Taylor, CL ;

Scambler, PJ .

GENOME RESEARCH, 1998, 8 (08) :834-841

[10] UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome [J].

Pizzuti, A ;

Novelli, G ;

Ratti, A ;

Amati, F ;

Mari, A ;

Calabrese, G ;

Nicolis, S ;

Silani, V ;

Marino, B ;

Scarlato, G ;

Ottolenghi, S ;

Dallapiccola, B .

HUMAN MOLECULAR GENETICS, 1997, 6 (02) :259-265

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