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Items: 1 to 20 of 37

1.

Polycystic disease of the liver: a study of 24 cases.

COMFORT MW, GRAY HK, DAHLIN DC, WHITESELL FB Jr.

Gastroenterology. 1952 Jan;20(1):60-78. No abstract available.

PMID:
14897088
2.

Polycystic liver; analysis of seventy cases.

MELNICK PJ.

AMA Arch Pathol. 1955 Feb;59(2):162-72. No abstract available.

PMID:
13227714
3.

Clinical profile of autosomal dominant polycystic liver disease.

Qian Q, Li A, King BF, Kamath PS, Lager DJ, Huston J 3rd, Shub C, Davila S, Somlo S, Torres VE.

Hepatology. 2003 Jan;37(1):164-71.

PMID:
12500201
4.

Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease.

Pazour GJ, San Agustin JT, Follit JA, Rosenbaum JL, Witman GB.

Curr Biol. 2002 Jun 4;12(11):R378-80. No abstract available.

5.

Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex.

Newby LJ, Streets AJ, Zhao Y, Harris PC, Ward CJ, Ong AC.

J Biol Chem. 2002 Jun 7;277(23):20763-73. Epub 2002 Mar 18.

6.

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.

Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schöneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG.

Am J Hum Genet. 2002 May;70(5):1305-17. Epub 2002 Mar 15.

7.

Quaternary and domain structure of glycoprotein processing glucosidase II.

Trombetta ES, Fleming KG, Helenius A.

Biochemistry. 2001 Sep 4;40(35):10717-22.

PMID:
11524018
8.

Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.

Westphal V, Kjaergaard S, Davis JA, Peterson SM, Skovby F, Freeze HH.

Mol Genet Metab. 2001 May;73(1):77-85.

PMID:
11350186
9.

Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1.

Reynolds DM, Falk CT, Li A, King BF, Kamath PS, Huston J 3rd, Shub C, Iglesias DM, Martin RS, Pirson Y, Torres VE, Somlo S.

Am J Hum Genet. 2000 Dec;67(6):1598-604. Epub 2000 Oct 23.

10.
11.
13.

Setting the standards: quality control in the secretory pathway.

Ellgaard L, Molinari M, Helenius A.

Science. 1999 Dec 3;286(5446):1882-8. Review.

PMID:
10583943
14.

Identification and characterization of polycystin-2, the PKD2 gene product.

Cai Y, Maeda Y, Cedzich A, Torres VE, Wu G, Hayashi T, Mochizuki T, Park JH, Witzgall R, Somlo S.

J Biol Chem. 1999 Oct 1;274(40):28557-65.

15.
16.

Isolated polycystic liver disease not linked to polycystic kidney disease 1 and 2.

Iglesias DM, Palmitano JA, Arrizurieta E, Kornblihtt AR, Herrera M, Bernath V, Martin RS.

Dig Dis Sci. 1999 Feb;44(2):385-8.

PMID:
10063927
17.

Cell activation by glycated proteins. AGE receptors, receptor recognition factors and functional classification of AGEs.

Thornalley PJ.

Cell Mol Biol (Noisy-le-grand). 1998 Nov;44(7):1013-23. Review.

PMID:
9846883
18.

Disorders in protein glycosylation and potential therapy: tip of an iceberg?

Freeze HH.

J Pediatr. 1998 Nov;133(5):593-600. Review.

PMID:
9821413
19.

Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.

Watnick TJ, Torres VE, Gandolph MA, Qian F, Onuchic LF, Klinger KW, Landes G, Germino GG.

Mol Cell. 1998 Aug;2(2):247-51.

20.

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

Jaeken J, Matthijs G, Saudubray JM, Dionisi-Vici C, Bertini E, de Lonlay P, Henri H, Carchon H, Schollen E, Van Schaftingen E.

Am J Hum Genet. 1998 Jun;62(6):1535-9. No abstract available.

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