Molecular basis of autosomal-dominant polycystic kidney disease
Autosomal-dominant polycystic kidney disease (ADPKD) is one of the most common monogenetic diseases in humans. The discovery that mutations in the PKD1 and PKD2 genes are responsible for ADPKD has sparked extensive research efforts into the physiological and pathogenetic role of polycystin-1 and pol...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
April 2002
|
| In: |
Cellular and molecular life sciences
Year: 2002, Volume: 59, Issue: 4, Pages: 682-693 |
| ISSN: | 1420-9071 |
| DOI: | 10.1007/s00018-002-8457-z |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s00018-002-8457-z
|
| Author Notes: | A.R. Gallagher, S. Hidaka, N. Gretz and R. Witzgall |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1807804135 | ||
| 003 | DE-627 | ||
| 005 | 20230426062336.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 220624s2002 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1007/s00018-002-8457-z |2 doi | |
| 035 | |a (DE-627)1807804135 | ||
| 035 | |a (DE-599)KXP1807804135 | ||
| 035 | |a (OCoLC)1341461597 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Gallagher, Anna Rachel |e VerfasserIn |0 (DE-588)1260565491 |0 (DE-627)1807432270 |4 aut | |
| 245 | 1 | 0 | |a Molecular basis of autosomal-dominant polycystic kidney disease |c A.R. Gallagher, S. Hidaka, N. Gretz and R. Witzgall |
| 264 | 1 | |c April 2002 | |
| 300 | |b Illustrationen | ||
| 300 | |a 12 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 24.06.2022 | ||
| 520 | |a Autosomal-dominant polycystic kidney disease (ADPKD) is one of the most common monogenetic diseases in humans. The discovery that mutations in the PKD1 and PKD2 genes are responsible for ADPKD has sparked extensive research efforts into the physiological and pathogenetic role of polycystin-1 and polycystin-2, the proteins encoded by these two genes. While polycystin-1 may mediate the contact among cells or between cells and the extracellular matrix, a lot of evidence suggests that polycystin-2 represents an endoplasmic reticulum-bound cation channel. Cyst development has been compared to the growth of benign tumors and this view is highlighted by the model that a somatic mutation in addition to the germline mutation is responsible for cystogenesis (two-hit model of cyst formation). Since in vitro polycystin-1 and polycystin-2 interact through their COOH termini, the two proteins possibly act in a common pathway, which controls the width of renal tubules. The loss of one protein may lead to a disruption of this pathway and to the uncontrolled expansion of tubules. Our increasing knowledge of the molecular events in ADPKD has also started to be useful in designing novel diagnostic and therapeutic strategies. | ||
| 650 | 4 | |a Key words.PKD1; PKD2; polycystin-1; polycystin-2; ADPKD; polycystic kidney disease. | |
| 700 | 1 | |a Hidaka, Sumi |e VerfasserIn |0 (DE-588)1260418014 |0 (DE-627)1807287483 |4 aut | |
| 700 | 1 | |a Gretz, Norbert |d 1954-2023 |e VerfasserIn |0 (DE-588)1020104589 |0 (DE-627)691105154 |0 (DE-576)359544843 |4 aut | |
| 700 | 1 | |a Witzgall, Ralph |e VerfasserIn |0 (DE-588)1094918083 |0 (DE-627)855377038 |0 (DE-576)167529870 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Cellular and molecular life sciences |d Cham (ZG) : Springer International Publishing AG, 1997 |g 59(2002), 4 vom: Apr., Seite 682-693 |h Online-Ressource |w (DE-627)253390524 |w (DE-600)1458497-9 |w (DE-576)072283548 |x 1420-9071 |7 nnas |a Molecular basis of autosomal-dominant polycystic kidney disease |
| 773 | 1 | 8 | |g volume:59 |g year:2002 |g number:4 |g month:04 |g pages:682-693 |g extent:12 |a Molecular basis of autosomal-dominant polycystic kidney disease |
| 856 | 4 | 0 | |u https://doi.org/10.1007/s00018-002-8457-z |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20220624 | ||
| 993 | |a Article | ||
| 994 | |a 2002 | ||
| 998 | |g 1094918083 |a Witzgall, Ralph |m 1094918083:Witzgall, Ralph |d 50000 |d 53100 |e 50000PW1094918083 |e 53100PW1094918083 |k 0/50000/ |k 1/50000/53100/ |p 4 |y j | ||
| 998 | |g 1020104589 |a Gretz, Norbert |m 1020104589:Gretz, Norbert |d 60000 |d 999811 |e 60000PG1020104589 |e 999811PG1020104589 |k 0/60000/ |k 1/60000/999811/ |p 3 | ||
| 998 | |g 1260418014 |a Hidaka, Sumi |m 1260418014:Hidaka, Sumi |d 60000 |d 999811 |d 50000 |d 53100 |e 60000PH1260418014 |e 999811PH1260418014 |e 50000PH1260418014 |e 53100PH1260418014 |k 0/60000/ |k 1/60000/999811/ |k 0/50000/ |k 1/50000/53100/ |p 2 | ||
| 998 | |g 1260565491 |a Gallagher, Anna Rachel |m 1260565491:Gallagher, Anna Rachel |d 60000 |d 999811 |d 50000 |d 53100 |e 60000PG1260565491 |e 999811PG1260565491 |e 50000PG1260565491 |e 53100PG1260565491 |k 0/60000/ |k 1/60000/999811/ |k 0/50000/ |k 1/50000/53100/ |p 1 |x j | ||
| 999 | |a KXP-PPN1807804135 |e 4156358011 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"note":["Gesehen am 24.06.2022"],"origin":[{"dateIssuedKey":"2002","dateIssuedDisp":"April 2002"}],"type":{"bibl":"article-journal","media":"Online-Ressource"},"physDesc":[{"noteIll":"Illustrationen","extent":"12 S."}],"id":{"doi":["10.1007/s00018-002-8457-z"],"eki":["1807804135"]},"name":{"displayForm":["A.R. Gallagher, S. Hidaka, N. Gretz and R. Witzgall"]},"relHost":[{"type":{"bibl":"periodical","media":"Online-Ressource"},"origin":[{"dateIssuedKey":"1997","publisherPlace":"Cham (ZG) ; Basel ; Basel","publisher":"Springer International Publishing AG ; Birkhäuser ; Springer Basel AG","dateIssuedDisp":"1997-"}],"note":["Gesehen am 10.10.05"],"physDesc":[{"extent":"Online-Ressource"}],"language":["eng"],"title":[{"title":"Cellular and molecular life sciences","title_sort":"Cellular and molecular life sciences","subtitle":"(CMLS)"}],"titleAlt":[{"title":"CMLS"}],"disp":"Molecular basis of autosomal-dominant polycystic kidney diseaseCellular and molecular life sciences","id":{"eki":["253390524"],"issn":["1420-9071"],"zdb":["1458497-9"]},"part":{"year":"2002","issue":"4","extent":"12","text":"59(2002), 4 vom: Apr., Seite 682-693","pages":"682-693","volume":"59"},"pubHistory":["53.1997 -"],"recId":"253390524"}],"language":["eng"],"person":[{"given":"Anna Rachel","display":"Gallagher, Anna Rachel","role":"aut","family":"Gallagher","roleDisplay":"VerfasserIn"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Hidaka","given":"Sumi","display":"Hidaka, Sumi"},{"family":"Gretz","roleDisplay":"VerfasserIn","role":"aut","display":"Gretz, Norbert","given":"Norbert"},{"family":"Witzgall","roleDisplay":"VerfasserIn","role":"aut","display":"Witzgall, Ralph","given":"Ralph"}],"title":[{"title_sort":"Molecular basis of autosomal-dominant polycystic kidney disease","title":"Molecular basis of autosomal-dominant polycystic kidney disease"}],"recId":"1807804135"} | ||
| SRT | |a GALLAGHERAMOLECULARB2002 | ||