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Items: 1 to 20 of 51

1.

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Ansar M, Paracha SA, Serretti A, Sarwar MT, Khan J, Ranza E, Falconnet E, Iwaszkiewicz J, Shah SF, Qaisar AA, Santoni FA, Zoete V, Megarbane A, Ahmed J, Colombo R, Makrythanasis P, Antonarakis SE.

Hum Mol Genet. 2018 Nov 26. doi: 10.1093/hmg/ddy406. [Epub ahead of print]

PMID:
30481285
2.

Biallelic variants in KIF14 cause intellectual disability with microcephaly.

Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH, Hamamy H, Gleeson JG, Lupski JR, Karimiani EG, Antonarakis SE.

Eur J Hum Genet. 2018 Mar;26(3):330-339. doi: 10.1038/s41431-017-0088-9. Epub 2018 Jan 17.

3.

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

Ansar M, Riazuddin S, Sarwar MT, Makrythanasis P, Paracha SA, Iqbal Z, Khan J, Assir MZ, Hussain M, Razzaq A, Polla DL, Taj AS, Holmgren A, Batool N, Misceo D, Iwaszkiewicz J, de Brouwer APM, Guipponi M, Hanquinet S, Zoete V, Santoni FA, Frengen E, Ahmed J, Riazuddin S, van Bokhoven H, Antonarakis SE.

Genet Med. 2018 Jul;20(7):778-784. doi: 10.1038/gim.2017.113. Epub 2017 Aug 24.

PMID:
28837161
4.

Design of short peptides to block BTLA/HVEM interactions for promoting anticancer T-cell responses.

Spodzieja M, Lach S, Iwaszkiewicz J, Cesson V, Kalejta K, Olive D, Michielin O, Speiser DE, Zoete V, Derré L, Rodziewicz-Motowidło S.

PLoS One. 2017 Jun 8;12(6):e0179201. doi: 10.1371/journal.pone.0179201. eCollection 2017.

5.

Activating mutations in genes related to TCR signaling in angioimmunoblastic and other follicular helper T-cell-derived lymphomas.

Vallois D, Dobay MP, Morin RD, Lemonnier F, Missiaglia E, Juilland M, Iwaszkiewicz J, Fataccioli V, Bisig B, Roberti A, Grewal J, Bruneau J, Fabiani B, Martin A, Bonnet C, Michielin O, Jais JP, Figeac M, Bernard OA, Delorenzi M, Haioun C, Tournilhac O, Thome M, Gascoyne RD, Gaulard P, de Leval L.

Blood. 2016 Sep 15;128(11):1490-502. doi: 10.1182/blood-2016-02-698977. Epub 2016 Jul 1.

6.

Design and Validation of a Novel Generic Platform for the Production of Tetravalent IgG1-like Bispecific Antibodies.

Golay J, Choblet S, Iwaszkiewicz J, Cérutti P, Ozil A, Loisel S, Pugnière M, Ubiali G, Zoete V, Michielin O, Berthou C, Kadouche J, Mach JP, Duonor-Cérutti M.

J Immunol. 2016 Apr 1;196(7):3199-211. doi: 10.4049/jimmunol.1501592. Epub 2016 Feb 26.

7.

Bicc1 Polymerization Regulates the Localization and Silencing of Bound mRNA.

Rothé B, Leal-Esteban L, Bernet F, Urfer S, Doerr N, Weimbs T, Iwaszkiewicz J, Constam DB.

Mol Cell Biol. 2015 Oct;35(19):3339-53. doi: 10.1128/MCB.00341-15. Epub 2015 Jul 27.

8.

The CAP1/Prss8 catalytic triad is not involved in PAR2 activation and protease nexin-1 (PN-1) inhibition.

Crisante G, Battista L, Iwaszkiewicz J, Nesca V, Mérillat AM, Sergi C, Zoete V, Frateschi S, Hummler E.

FASEB J. 2014 Nov;28(11):4792-805. doi: 10.1096/fj.14-253781. Epub 2014 Aug 19.

PMID:
25138159
9.

Monoubiquitination and activity of the paracaspase MALT1 requires glutamate 549 in the dimerization interface.

Cabalzar K, Pelzer C, Wolf A, Lenz G, Iwaszkiewicz J, Zoete V, Hailfinger S, Thome M.

PLoS One. 2013 Aug 19;8(8):e72051. doi: 10.1371/journal.pone.0072051. eCollection 2013.

10.

RNA pentaloop structures as effective targets of regulators belonging to the RsmA/CsrA protein family.

Lapouge K, Perozzo R, Iwaszkiewicz J, Bertelli C, Zoete V, Michielin O, Scapozza L, Haas D.

RNA Biol. 2013 Jun;10(6):1031-41. doi: 10.4161/rna.24771. Epub 2013 Apr 23.

11.

Mutations of the serine protease CAP1/Prss8 lead to reduced embryonic viability, skin defects, and decreased ENaC activity.

Frateschi S, Keppner A, Malsure S, Iwaszkiewicz J, Sergi C, Merillat AM, Fowler-Jaeger N, Randrianarison N, Planès C, Hummler E.

Am J Pathol. 2012 Aug;181(2):605-15. doi: 10.1016/j.ajpath.2012.05.007. Epub 2012 Jun 13.

12.

Identification of human IKK-2 inhibitors of natural origin (Part II): in Silico prediction of IKK-2 inhibitors in natural extracts with known anti-inflammatory activity.

Sala E, Guasch L, Iwaszkiewicz J, Mulero M, Salvadó MJ, Bladé C, Ceballos M, Valls C, Zoete V, Grosdidier A, Garcia-Vallvé S, Michielin O, Pujadas G.

Eur J Med Chem. 2011 Dec;46(12):6098-103. doi: 10.1016/j.ejmech.2011.09.022. Epub 2011 Sep 22.

PMID:
22000921
13.

The V-ATPase proteolipid cylinder promotes the lipid-mixing stage of SNARE-dependent fusion of yeast vacuoles.

Strasser B, Iwaszkiewicz J, Michielin O, Mayer A.

EMBO J. 2011 Sep 20;30(20):4126-41. doi: 10.1038/emboj.2011.335.

14.

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations.

Niel-Butschi F, Kantelip B, Iwaszkiewicz J, Zoete V, Boimard M, Delpech M, Bourges JL, Renard G, D'Hermies F, Pisella PJ, Hamel C, Delbosc B, Valleix S.

Mol Vis. 2011;17:1192-202. Epub 2011 May 5.

15.

Identification of human IKK-2 inhibitors of natural origin (part I): modeling of the IKK-2 kinase domain, virtual screening and activity assays.

Sala E, Guasch L, Iwaszkiewicz J, Mulero M, Salvadó MJ, Pinent M, Zoete V, Grosdidier A, Garcia-Vallvé S, Michielin O, Pujadas G.

PLoS One. 2011 Feb 24;6(2):e16903. doi: 10.1371/journal.pone.0016903.

16.

A combined computational and functional approach identifies new residues involved in pH-dependent gating of ASIC1a.

Liechti LA, Bernèche S, Bargeton B, Iwaszkiewicz J, Roy S, Michielin O, Kellenberger S.

J Biol Chem. 2010 May 21;285(21):16315-29. doi: 10.1074/jbc.M109.092015. Epub 2010 Mar 18.

17.

The role of the Val57 amino-acid residue in the hinge loop of the human cystatin C. Conformational studies of the beta2-L1-beta3 segments of wild-type human cystatin C and its mutants.

Rodziewicz-Motowidło S, Iwaszkiewicz J, Sosnowska R, Czaplewska P, Sobolewski E, Szymańska A, Stachowiak K, Liwo A.

Biopolymers. 2009 May;91(5):373-83. doi: 10.1002/bip.21140.

PMID:
19137579
18.

The fourth extracellular loop of the alpha subunit of Na,K-ATPase. Functional evidence for close proximity with the second extracellular loop.

Capendeguy O, Iwaszkiewicz J, Michielin O, Horisberger JD.

J Biol Chem. 2008 Oct 10;283(41):27850-8. doi: 10.1074/jbc.M802194200. Epub 2008 Aug 8.

19.
20.

Differential metabolism of arachidonic acid in nasal polyp epithelial cells cultured from aspirin-sensitive and aspirin-tolerant patients.

Kowalski ML, Pawliczak R, Wozniak J, Siuda K, Poniatowska M, Iwaszkiewicz J, Kornatowski T, Kaliner MA.

Am J Respir Crit Care Med. 2000 Feb;161(2 Pt 1):391-8.

PMID:
10673176

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