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Items: 27

1.

Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016.

Clark WT, Kasak L, Bakolitsa C, Hu Z, Andreoletti G, Babbi G, Bromberg Y, Casadio R, Dunbrack R, Folkman L, Ford CT, Jones D, Katsonis P, Kundu K, Lichtarge O, Martelli PL, Mooney SD, Nodzak C, Pal LR, Radivojac P, Savojardo C, Shi X, Zhou Y, Uppal A, Xu Q, Yin Y, Pejaver V, Wang M, Wei L, Moult J, Yu GK, Brenner SE, LeBowitz JH.

Hum Mutat. 2019 Sep;40(9):1519-1529. doi: 10.1002/humu.23875.

PMID:
31342580
2.

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.

Kasak L, Hunter JM, Udani R, Bakolitsa C, Hu Z, Adhikari AN, Babbi G, Casadio R, Gough J, Guerrero RF, Jiang Y, Joseph T, Katsonis P, Kotte S, Kundu K, Lichtarge O, Martelli PL, Mooney SD, Moult J, Pal LR, Poitras J, Radivojac P, Rao A, Sivadasan N, Sunderam U, Saipradeep VG, Yin Y, Zaucha J, Brenner SE, Meyn MS.

Hum Mutat. 2019 Sep;40(9):1373-1391. doi: 10.1002/humu.23874. Epub 2019 Sep 3.

PMID:
31322791
3.

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.

Kasak L, Bakolitsa C, Hu Z, Yu C, Rine J, Dimster-Denk DF, Pandey G, De Baets G, Bromberg Y, Cao C, Capriotti E, Casadio R, Van Durme J, Giollo M, Karchin R, Katsonis P, Leonardi E, Lichtarge O, Martelli PL, Masica D, Mooney SD, Olatubosun A, Radivojac P, Rousseau F, Pal LR, Savojardo C, Schymkowitz J, Thusberg J, Tosatto SCE, Vihinen M, Väliaho J, Repo S, Moult J, Brenner SE, Friedberg I.

Hum Mutat. 2019 Sep;40(9):1530-1545. doi: 10.1002/humu.23868. Epub 2019 Sep 3.

PMID:
31301157
4.

Characterization of Protein Kinase ULK3 Regulation by Phosphorylation and Inhibition by Small Molecule SU6668.

Kasak L, Näks M, Eek P, Piirsoo A, Bhadoria R, Starkov P, Saarma M, Kasvandik S, Piirsoo M.

Biochemistry. 2018 Sep 18;57(37):5456-5465. doi: 10.1021/acs.biochem.8b00356. Epub 2018 Sep 4.

PMID:
30096229
5.

Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.

Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes AM, Punab AM, Aston KI, Carvalho F, Laasik E, Smith LB; GEMINI Consortium, Conrad DF, Laan M.

Am J Hum Genet. 2018 Aug 2;103(2):200-212. doi: 10.1016/j.ajhg.2018.07.005.

6.

Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families.

Kasak L, Rull K, Sõber S, Laan M.

Sci Rep. 2017 Mar 27;7:45327. doi: 10.1038/srep45327.

7.

Extensive load of somatic CNVs in the human placenta.

Kasak L, Rull K, Vaas P, Teesalu P, Laan M.

Sci Rep. 2015 Feb 10;5:8342. doi: 10.1038/srep08342.

8.

Structural genomic variation as risk factor for idiopathic recurrent miscarriage.

Nagirnaja L, Palta P, Kasak L, Rull K, Christiansen OB, Nielsen HS, Steffensen R, Esko T, Remm M, Laan M.

Hum Mutat. 2014 Aug;35(8):972-82. doi: 10.1002/humu.22589. Epub 2014 Jun 24.

9.

Protein kinase inhibitor SU6668 attenuates positive regulation of Gli proteins in cancer and multipotent progenitor cells.

Piirsoo A, Kasak L, Kauts ML, Loog M, Tints K, Uusen P, Neuman T, Piirsoo M.

Biochim Biophys Acta. 2014 Apr;1843(4):703-14. doi: 10.1016/j.bbamcr.2014.01.003. Epub 2014 Jan 10.

10.

Soluble CD44 interacts with intermediate filament protein vimentin on endothelial cell surface.

Päll T, Pink A, Kasak L, Turkina M, Anderson W, Valkna A, Kogerman P.

PLoS One. 2011;6(12):e29305. doi: 10.1371/journal.pone.0029305. Epub 2011 Dec 21.

11.

Dual function of UNC-51-like kinase 3 (Ulk3) in the Sonic hedgehog signaling pathway.

Maloverjan A, Piirsoo M, Kasak L, Peil L, Østerlund T, Kogerman P.

J Biol Chem. 2010 Sep 24;285(39):30079-90. doi: 10.1074/jbc.M110.133991. Epub 2010 Jul 19.

12.

Generation and characterization of mouse monoclonal antibody 5E1 against human transcription factor GLI3.

Hunt R, Bragina O, Drews M, Kasak L, Timmusk S, Valkna A, Kogerman P, Järvekülg L.

Hybridoma (Larchmt). 2007 Aug;26(4):231-40.

PMID:
17725385
13.

Generation and characterization of mouse monoclonal antibody 5E1 against human transcription factor GLI3.

Hunt R, Bragina O, Drews M, Kasak L, Timmusk S, Valkna A, Kogerman P, Järvekülg L.

Hybridoma (Larchmt). 2007 Jun;26(3):131-9.

PMID:
17600494
14.

A novel metalloprotease from Vipera lebetina venom induces human endothelial cell apoptosis.

Trummal K, Tõnismägi K, Siigur E, Aaspõllu A, Lopp A, Sillat T, Saat R, Kasak L, Tammiste I, Kogerman P, Kalkkinen N, Siigur J.

Toxicon. 2005 Jul;46(1):46-61.

PMID:
15922394
15.
17.
18.

Regulation of the catechol 1,2-dioxygenase- and phenol monooxygenase-encoding pheBA operon in Pseudomonas putida PaW85.

Kasak L, Hôrak R, Nurk A, Talvik K, Kivisaar M.

J Bacteriol. 1993 Dec;175(24):8038-42.

22.

Hydrolase activities in the rat aorta. II. Effects of hypertension alone and in combination with diabetes mellitus.

Wolinsky H, Capron L, Goldfischer S, Capron F, Coltoff-Schiller B, Kasak LE.

Circ Res. 1978 Jun;42(6):831-9.

PMID:
657443
23.

Hydrolase activities in the rat aorta. I. Effects of diabetes mellitus and insulin treatment.

Wolinsky H, Goldfischer S, Capron L, Capron F, Coltoff-Schiller B, Kasak L.

Circ Res. 1978 Jun;42(6):821-31.

PMID:
148980
24.
25.

Arterial lysosomes and connective tissue in primate atherosclerosis and hypertension.

Wolinsky H, Goldfischer S, Daly MM, Kasak LE, Coltoff-Schiller B.

Circ Res. 1975 Apr;36(4):553-61.

PMID:
1116247
26.

Modification of the effects of hypertension on lysosomes and connective tissue in the rat aorta.

Wolinsky H, Goldfischer S, Schiller B, Kasak LE.

Circ Res. 1974 Feb;34(2):233-41. No abstract available.

PMID:
4811077
27.

Lysosomes in aortic smooth muscle cells. Effects of hypertension.

Wolinsky H, Goldfischer S, Schiller B, Kasak LE.

Am J Pathol. 1973 Dec;73(3):727-34.

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