Molecular Analysis of PRKAG2, LAMP2, and NKX2-5 Genes in a Cohort of 125 Patients With Accessory Atrioventricular Connection

被引：17

作者：

Esposito, Giorgia ^{[1
,2
,3
]}

Grutter, Giorgia ^{[4
]}

Drago, Fabrizio ^{[4
]}

Costa, Mauro W. ^{[5
,6
]}

De Santis, Antonella ^{[4
]}

Bosco, Giovanna ^{[7
]}

Marino, Bruno ^{[7
]}

Bellacchio, Emanuele ^{[1
,2
]}

Lepri, Francesca ^{[1
,2
]}

Harvey, Richard P. ^{[5
]}

Sarkozy, Anna ^{[1
,2
]}

Dallapiccola, Bruno ^{[1
,2
]}

机构：

[1] IRCCS Casa Sollievdo Sofferenza, Rome, Italy

[2] Casa Sollievdo Sofferenza Mendel Inst, Rome, Italy

[3] Univ Roma La Sapienza, Dept Expt Med & Pathol, Rome, Italy

[4] Bambino Gesu Pediat Hosp, IRCCS, Dept Pediat Cardiol, Rome, Italy

[5] Victor Chang Cardiac Res Inst, Sydney, NSW, Australia

[6] Univ Fed Rio de Janeiro, Inst Biofis Carlos Chagas Filho, BR-21941 Rio De Janeiro, Brazil

[7] Univ Roma La Sapienza, Dept Pediat, Pediat Cardiol Sect, Rome, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 07期

关键词：

TRANSCRIPTION FACTOR NKX2-5; CONGENITAL HEART-DISEASE; PARKINSON-WHITE-SYNDROME; HOMEODOMAIN FACTOR; MUTATIONS; CARDIOMYOPATHY; IDENTIFICATION;

D O I：

10.1002/ajmg.a.32907

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1574 / 1577

页数：4

共 25 条

[1] The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies:: Mutation or polymorphism? [J].

Akcaboy, M. I. ;

Cengiz, F. B. ;

Inceoglu, B. ;

Ucar, T. ;

Atalay, S. ;

Tutar, E. ;

Tekin, M. .

PEDIATRIC CARDIOLOGY, 2008, 29 (01) :126-129

[2] Glycogen storage diseases presenting as hypertrophic cardiomyopathy [J].

Arad, M ;

Maron, BJ ;

Gorham, JM ;

Johnson, WH ;

Saul, JP ;

Perez-Atayde, AR ;

Spirito, P ;

Wright, GB ;

Kanter, RJ ;

Seidman, CE ;

Seidman, JG .

NEW ENGLAND JOURNAL OF MEDICINE, 2005, 352 (04) :362-372

[3] Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways [J].

Benson, DW ;

Silberbach, GM ;

Kavanaugh-McHugh, A ;

Cottrill, C ;

Zhang, YZ ;

Riggs, S ;

Smalls, O ;

Johnson, MC ;

Watson, MS ;

Seidman, JG ;

Seidman, CE ;

Plowden, J ;

Kugler, JD .

JOURNAL OF CLINICAL INVESTIGATION, 1999, 104 (11) :1567-1573

[4] IDENTIFICATION OF NOVEL DNA-BINDING TARGETS AND REGULATORY DOMAINS OF A MURINE TINMAN HOMEODOMAIN FACTOR, NKX-2.5 [J].

CHEN, CY ;

SCHWARTZ, RJ .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (26) :15628-15633

[5] Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor [J].

Cuervo, AM ;

Mann, L ;

Bonten, EJ ;

d'Azzo, A ;

Dice, JF .

EMBO JOURNAL, 2003, 22 (01) :47-59

[6] A receptor for the selective uptake and degradation of proteins by lysosomes [J].

Cuervo, AM ;

Dice, JF .

SCIENCE, 1996, 273 (5274) :501-503

[7] WOLFF-PARKINSON-WHITE SYNDROME AND SUPRAVENTRICULAR TACHYCARDIA DURING INFANCY - MANAGEMENT AND FOLLOW-UP [J].

DEAL, BJ ;

KEANE, JF ;

GILLETTE, PC ;

GARSON, A .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 1985, 5 (01) :130-135

[8] Missense mutation in the transcription factor NKX2-5: A novel molecular event in the pathogenesis of thyroid dysgenesis [J].

Dentice, M ;

Cordeddu, V ;

Rosica, A ;

Ferrara, AM ;

Santarpia, L ;

Salvatore, D ;

Chiovato, L ;

Perri, A ;

Moschini, L ;

Fazzini, C ;

Olivieri, A ;

Costa, P ;

Stoppioni, V ;

Baserga, M ;

De Felice, M ;

Sorcini, M ;

Fenzi, G ;

Di Lauro, R ;

Tartaglia, M ;

Macchia, PE .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (04) :1428-1433

[9] Is Wolff-Parkinson-White syndrome a genetic disease? [J].

Ehtisham, J ;

Watkins, H .

JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, 2005, 16 (11) :1258-1262

[10] Cardiac homeobox gene NKX2-5 mutations and congenital heart disease -: Associations with atrial septal defect and hypoplastic left heart syndrome [J].

Elliott, DA ;

Kirk, EP ;

Yeoh, T ;

Chandar, S ;

McKenzie, F ;

Taylor, P ;

Grossfeld, P ;

Fatkin, D ;

Jones, O ;

Hayes, P ;

Feneley, M ;

Harvey, RP .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2003, 41 (11) :2072-2076

← 1 2 3 →