共 129 条
Genetics and pathogenesis of polycystic kidney disease
被引:414
作者:

Igarashi, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Texas, SW Med Ctr, Div Nephrol, Dept Internal Med, Dallas, TX 75390 USA

Somlo, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Texas, SW Med Ctr, Div Nephrol, Dept Internal Med, Dallas, TX 75390 USA
机构:
[1] Univ Texas, SW Med Ctr, Div Nephrol, Dept Internal Med, Dallas, TX 75390 USA
[2] Yale Univ, Sch Med, Dept Internal Med, New Haven, CT 06510 USA
[3] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA
来源:
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
|
2002年
/
13卷
/
09期
关键词:
D O I:
10.1097/01.ASN.0000028643.17901.42
中图分类号:
R5 [内科学];
R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号:
1002 ;
100201 ;
摘要:
[No abstract available]
引用
收藏
页码:2384 / 2398
页数:15
相关论文
共 129 条
[51]
LINKAGE HETEROGENEITY OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY-DISEASE
[J].
KIMBERLING, WJ
;
FAIN, PR
;
KENYON, JB
;
GOLDGAR, D
;
SUJANSKY, E
;
GABOW, PA
.
NEW ENGLAND JOURNAL OF MEDICINE,
1988, 319 (14)
:913-918

KIMBERLING, WJ
论文数: 0 引用数: 0
h-index: 0
机构: CREIGHTON UNIV,SCH MED,DEPT PATHOL,OMAHA,NE 68131

FAIN, PR
论文数: 0 引用数: 0
h-index: 0
机构: CREIGHTON UNIV,SCH MED,DEPT PATHOL,OMAHA,NE 68131

KENYON, JB
论文数: 0 引用数: 0
h-index: 0
机构: CREIGHTON UNIV,SCH MED,DEPT PATHOL,OMAHA,NE 68131

论文数: 引用数:
h-index:
机构:

SUJANSKY, E
论文数: 0 引用数: 0
h-index: 0
机构: CREIGHTON UNIV,SCH MED,DEPT PATHOL,OMAHA,NE 68131

GABOW, PA
论文数: 0 引用数: 0
h-index: 0
机构: CREIGHTON UNIV,SCH MED,DEPT PATHOL,OMAHA,NE 68131
[52]
Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease
[J].
Koptides, M
;
Hadjimichael, C
;
Koupepidou, P
;
Pierides, A
;
Deltas, CC
.
HUMAN MOLECULAR GENETICS,
1999, 8 (03)
:509-513

Koptides, M
论文数: 0 引用数: 0
h-index: 0
机构: Nicosia Gen Hosp, Dept Mol Genet, Cyprus Inst Neurol & Genet, Nicosia, Cyprus

Hadjimichael, C
论文数: 0 引用数: 0
h-index: 0
机构: Nicosia Gen Hosp, Dept Mol Genet, Cyprus Inst Neurol & Genet, Nicosia, Cyprus

Koupepidou, P
论文数: 0 引用数: 0
h-index: 0
机构: Nicosia Gen Hosp, Dept Mol Genet, Cyprus Inst Neurol & Genet, Nicosia, Cyprus

Pierides, A
论文数: 0 引用数: 0
h-index: 0
机构: Nicosia Gen Hosp, Dept Mol Genet, Cyprus Inst Neurol & Genet, Nicosia, Cyprus

Deltas, CC
论文数: 0 引用数: 0
h-index: 0
机构:
Nicosia Gen Hosp, Dept Mol Genet, Cyprus Inst Neurol & Genet, Nicosia, Cyprus Nicosia Gen Hosp, Dept Mol Genet, Cyprus Inst Neurol & Genet, Nicosia, Cyprus
[53]
Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease
[J].
Koptides, M
;
Mean, R
;
Demetriou, K
;
Pierides, A
;
Deltas, CC
.
HUMAN MOLECULAR GENETICS,
2000, 9 (03)
:447-452

Koptides, M
论文数: 0 引用数: 0
h-index: 0
机构: Cyprus Inst Neurol & Genet, Dept Mol Genet, CY-1683 Nicosia, Cyprus

Mean, R
论文数: 0 引用数: 0
h-index: 0
机构: Cyprus Inst Neurol & Genet, Dept Mol Genet, CY-1683 Nicosia, Cyprus

Demetriou, K
论文数: 0 引用数: 0
h-index: 0
机构: Cyprus Inst Neurol & Genet, Dept Mol Genet, CY-1683 Nicosia, Cyprus

Pierides, A
论文数: 0 引用数: 0
h-index: 0
机构: Cyprus Inst Neurol & Genet, Dept Mol Genet, CY-1683 Nicosia, Cyprus

Deltas, CC
论文数: 0 引用数: 0
h-index: 0
机构: Cyprus Inst Neurol & Genet, Dept Mol Genet, CY-1683 Nicosia, Cyprus
[54]
Polycystin-2 is an intracellular calcium release channel
[J].
Koulen, P
;
Cai, YQ
;
Geng, L
;
Maeda, Y
;
Nishimura, S
;
Witzgall, R
;
Ehrlich, BE
;
Somlo, S
.
NATURE CELL BIOLOGY,
2002, 4 (03)
:191-197

Koulen, P
论文数: 0 引用数: 0
h-index: 0
机构: Yale Univ, Sch Med, Dept Internal Med, New Haven, CT 06520 USA

Cai, YQ
论文数: 0 引用数: 0
h-index: 0
机构: Yale Univ, Sch Med, Dept Internal Med, New Haven, CT 06520 USA

Geng, L
论文数: 0 引用数: 0
h-index: 0
机构: Yale Univ, Sch Med, Dept Internal Med, New Haven, CT 06520 USA

Maeda, Y
论文数: 0 引用数: 0
h-index: 0
机构: Yale Univ, Sch Med, Dept Internal Med, New Haven, CT 06520 USA

Nishimura, S
论文数: 0 引用数: 0
h-index: 0
机构: Yale Univ, Sch Med, Dept Internal Med, New Haven, CT 06520 USA

Witzgall, R
论文数: 0 引用数: 0
h-index: 0
机构: Yale Univ, Sch Med, Dept Internal Med, New Haven, CT 06520 USA

Ehrlich, BE
论文数: 0 引用数: 0
h-index: 0
机构: Yale Univ, Sch Med, Dept Internal Med, New Haven, CT 06520 USA

Somlo, S
论文数: 0 引用数: 0
h-index: 0
机构: Yale Univ, Sch Med, Dept Internal Med, New Haven, CT 06520 USA
[55]
Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation
[J].
Lu, WN
;
Peissel, B
;
Babakhanlou, H
;
Pavlova, A
;
Geng, L
;
Fan, XH
;
Larson, C
;
Brent, G
;
Zhou, J
.
NATURE GENETICS,
1997, 17 (02)
:179-181

Lu, WN
论文数: 0 引用数: 0
h-index: 0
机构: HARVARD UNIV, BRIGHAM & WOMENS HOSP,SCH MED,DEPT MED,DIV RENAL, BOSTON, MA 02115 USA

Peissel, B
论文数: 0 引用数: 0
h-index: 0
机构: HARVARD UNIV, BRIGHAM & WOMENS HOSP,SCH MED,DEPT MED,DIV RENAL, BOSTON, MA 02115 USA

Babakhanlou, H
论文数: 0 引用数: 0
h-index: 0
机构: HARVARD UNIV, BRIGHAM & WOMENS HOSP,SCH MED,DEPT MED,DIV RENAL, BOSTON, MA 02115 USA

Pavlova, A
论文数: 0 引用数: 0
h-index: 0
机构: HARVARD UNIV, BRIGHAM & WOMENS HOSP,SCH MED,DEPT MED,DIV RENAL, BOSTON, MA 02115 USA

Geng, L
论文数: 0 引用数: 0
h-index: 0
机构: HARVARD UNIV, BRIGHAM & WOMENS HOSP,SCH MED,DEPT MED,DIV RENAL, BOSTON, MA 02115 USA

Fan, XH
论文数: 0 引用数: 0
h-index: 0
机构: HARVARD UNIV, BRIGHAM & WOMENS HOSP,SCH MED,DEPT MED,DIV RENAL, BOSTON, MA 02115 USA

Larson, C
论文数: 0 引用数: 0
h-index: 0
机构: HARVARD UNIV, BRIGHAM & WOMENS HOSP,SCH MED,DEPT MED,DIV RENAL, BOSTON, MA 02115 USA

Brent, G
论文数: 0 引用数: 0
h-index: 0
机构: HARVARD UNIV, BRIGHAM & WOMENS HOSP,SCH MED,DEPT MED,DIV RENAL, BOSTON, MA 02115 USA

Zhou, J
论文数: 0 引用数: 0
h-index: 0
机构: HARVARD UNIV, BRIGHAM & WOMENS HOSP,SCH MED,DEPT MED,DIV RENAL, BOSTON, MA 02115 USA
[56]
Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects
[J].
Lu, WN
;
Shen, XH
;
Pavlova, A
;
Lakkis, M
;
Ward, CJ
;
Pritchard, L
;
Harris, PC
;
Genest, DR
;
Perez-Atayde, AR
;
Zhou, J
.
HUMAN MOLECULAR GENETICS,
2001, 10 (21)
:2385-2396

Lu, WN
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp, Sch Med, Dept Pathol, Boston, MA 02115 USA

Shen, XH
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp, Sch Med, Dept Pathol, Boston, MA 02115 USA

Pavlova, A
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp, Sch Med, Dept Pathol, Boston, MA 02115 USA

Lakkis, M
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp, Sch Med, Dept Pathol, Boston, MA 02115 USA

Ward, CJ
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp, Sch Med, Dept Pathol, Boston, MA 02115 USA

Pritchard, L
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp, Sch Med, Dept Pathol, Boston, MA 02115 USA

Harris, PC
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp, Sch Med, Dept Pathol, Boston, MA 02115 USA

Genest, DR
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp, Sch Med, Dept Pathol, Boston, MA 02115 USA

Perez-Atayde, AR
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp, Sch Med, Dept Pathol, Boston, MA 02115 USA

Zhou, J
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp, Sch Med, Dept Pathol, Boston, MA 02115 USA
[57]
Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes
[J].
Lu, WN
;
Fan, XH
;
Basora, N
;
Babakhanlou, H
;
Law, T
;
Rifai, N
;
Harris, PC
;
Perez-Atayde, AR
;
Rennke, HG
;
Zhou, J
.
NATURE GENETICS,
1999, 21 (02)
:160-161

Lu, WN
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Dept Med, Div Renal, Boston, MA 02115 USA

Fan, XH
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Dept Med, Div Renal, Boston, MA 02115 USA

Basora, N
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Dept Med, Div Renal, Boston, MA 02115 USA

Babakhanlou, H
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Dept Med, Div Renal, Boston, MA 02115 USA

Law, T
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Dept Med, Div Renal, Boston, MA 02115 USA

Rifai, N
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Dept Med, Div Renal, Boston, MA 02115 USA

Harris, PC
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Dept Med, Div Renal, Boston, MA 02115 USA

Perez-Atayde, AR
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Dept Med, Div Renal, Boston, MA 02115 USA

Rennke, HG
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Dept Med, Div Renal, Boston, MA 02115 USA

Zhou, J
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Dept Med, Div Renal, Boston, MA 02115 USA Harvard Univ, Sch Med, Dept Med, Div Renal, Boston, MA 02115 USA
[58]
Polycystin-2 expression is developmentally regulated
[J].
Markowitz, GS
;
Cai, YQ
;
Li, L
;
Wu, GQ
;
Ward, LC
;
Somlo, S
;
D'Agati, VD
.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY,
1999, 277 (01)
:F17-F25

Markowitz, GS
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Presbyterian Med Ctr, Dept Pathol, Renal Pathol Lab, New York, NY 10032 USA

Cai, YQ
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Presbyterian Med Ctr, Dept Pathol, Renal Pathol Lab, New York, NY 10032 USA

Li, L
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Presbyterian Med Ctr, Dept Pathol, Renal Pathol Lab, New York, NY 10032 USA

Wu, GQ
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Presbyterian Med Ctr, Dept Pathol, Renal Pathol Lab, New York, NY 10032 USA

Ward, LC
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Presbyterian Med Ctr, Dept Pathol, Renal Pathol Lab, New York, NY 10032 USA

Somlo, S
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Presbyterian Med Ctr, Dept Pathol, Renal Pathol Lab, New York, NY 10032 USA

D'Agati, VD
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Presbyterian Med Ctr, Dept Pathol, Renal Pathol Lab, New York, NY 10032 USA
[59]
suREJ3, a polycystin-1 protein, is cleaved at the GPS domain and localizes to the acrosomal region of sea urchin sperm
[J].
Mengerink, KJ
;
Moy, GW
;
Vacquier, VD
.
JOURNAL OF BIOLOGICAL CHEMISTRY,
2002, 277 (02)
:943-948

Mengerink, KJ
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Scripps Inst Oceanog, Ctr Marine Biotechnol & Biomed, La Jolla, CA 92093 USA Univ Calif San Diego, Scripps Inst Oceanog, Ctr Marine Biotechnol & Biomed, La Jolla, CA 92093 USA

Moy, GW
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Scripps Inst Oceanog, Ctr Marine Biotechnol & Biomed, La Jolla, CA 92093 USA Univ Calif San Diego, Scripps Inst Oceanog, Ctr Marine Biotechnol & Biomed, La Jolla, CA 92093 USA

Vacquier, VD
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Scripps Inst Oceanog, Ctr Marine Biotechnol & Biomed, La Jolla, CA 92093 USA Univ Calif San Diego, Scripps Inst Oceanog, Ctr Marine Biotechnol & Biomed, La Jolla, CA 92093 USA
[60]
INTRAFAMILIAL PHENOTYPIC-EXPRESSION OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY-DISEASE
[J].
MILUTINOVIC, J
;
RUST, PF
;
FIALKOW, PJ
;
AGODOA, LY
;
PHILLIPS, LA
;
RUDD, TG
;
SUTHERLAND, S
.
AMERICAN JOURNAL OF KIDNEY DISEASES,
1992, 19 (05)
:465-472

MILUTINOVIC, J
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WASHINGTON,DEPT BIOMETRY,SEATTLE,WA 98195

RUST, PF
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WASHINGTON,DEPT BIOMETRY,SEATTLE,WA 98195

FIALKOW, PJ
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WASHINGTON,DEPT BIOMETRY,SEATTLE,WA 98195

AGODOA, LY
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WASHINGTON,DEPT BIOMETRY,SEATTLE,WA 98195

PHILLIPS, LA
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WASHINGTON,DEPT BIOMETRY,SEATTLE,WA 98195

RUDD, TG
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WASHINGTON,DEPT BIOMETRY,SEATTLE,WA 98195

SUTHERLAND, S
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WASHINGTON,DEPT BIOMETRY,SEATTLE,WA 98195