Mechanisms of disease: Hereditary proteinuria syndromes and mechanisms of proteinuria

被引：413

作者：

Tryggvason, K ^{[1
]}

Patrakka, J

Wartiovaara, J

机构：

[1] Karolinska Inst, Dept Med Biochem & Biophys, S-17177 Stockholm, Sweden

[2] Univ Helsinki, Inst Biotechnol, Electron Microscopy Unit, Helsinki, Finland

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2006年 / 354卷 / 13期

关键词：

D O I：

10.1056/NEJMra052131

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：1387 / 1401

页数：15

共 108 条

[1] A novel protein, densin, expressed by glomerular podocytes [J].

Ahola, H ;

Heikkilä, E ;

Åström, E ;

Inagaki, M ;

Izawa, I ;

Pavenstädt, H ;

Kerjaschki, D ;

Holthöfer, H .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2003, 14 (07) :1731-1737

[2]

AHVENAINEN E K, 1956, Ann Paediatr Fenn, V2, P227

[3]

Avasthi P S, 1988, Contrib Nephrol, V68, P104

[4] Donor splice-site mutations in WT1 are responsible for Frasier syndrome [J].

Barbaux, S ;

Niaudet, P ;

Gubler, MC ;

Grunfeld, JP ;

Jaubert, F ;

Kuttenn, F ;

Fekete, CN ;

SouleyreauTherville, N ;

Thibaud, E ;

Fellous, M ;

McElreavey, K .

NATURE GENETICS, 1997, 17 (04) :467-470

[5] 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

[6] Nephrin and Neph1 co-localize at the podocyte foot process intercellular junction and form cis hetero-oligomers [J].

Barletta, GM ;

Kovari, IA ;

Verma, RK ;

Kerjaschki, D ;

Holzman, LB .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (21) :19266-19271

[7] Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome [J].

Beltcheva, O ;

Martin, P ;

Lenkkeri, U ;

Tryggvason, K .

HUMAN MUTATION, 2001, 17 (05) :368-373

[8] Nail-patella syndrome. Overview on clinical and molecular findings [J].

Bongers, EMHF ;

Gubler, MC ;

Knoers, NVAM .

PEDIATRIC NEPHROLOGY, 2002, 17 (09) :703-712

[9]

Boute N, 2000, NAT GENET, V25, P125

[10] NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome [J].

Boute, N ;

Gribouval, O ;

Roselli, S ;

Benessy, F ;

Lee, H ;

Fuchshuber, A ;

Dahan, K ;

Gubler, MC ;

Niaudet, P ;

Antignac, C .

NATURE GENETICS, 2000, 24 (04) :349-354

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