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Items: 1 to 50 of 134

1.

Alteration of Blinking and Sex Differences During Physical Exercise Affect Tear Osmolarity.

Wylęgała A, Sędziak-Marcinek B, Pilch J, Wylęgała E.

J Hum Kinet. 2019 Jul 5;67:143-151. doi: 10.2478/hukin-2019-0004. eCollection 2019 Jun.

2.

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.

Elert-Dobkowska E, Stepniak I, Krysa W, Ziora-Jakutowicz K, Rakowicz M, Sobanska A, Pilch J, Antczak-Marach D, Zaremba J, Sulek A.

Neurogenetics. 2019 Mar;20(1):27-38. doi: 10.1007/s10048-019-00565-6. Epub 2019 Feb 19.

3.

Macrophage Polarization is Deregulated in Haemophilia.

Knowles LM, Kagiri D, Bernard M, Schwarz EC, Eichler H, Pilch J.

Thromb Haemost. 2019 Feb;119(2):234-245. doi: 10.1055/s-0038-1676796. Epub 2019 Jan 16.

4.

Reconstruction of Ovine Trachea with a Biomimetic Composite Biomaterial.

Ścierski W, Lisowska G, Namysłowski G, Misiołek M, Pilch J, Menaszek E, Gawlik R, Błażewicz M.

Biomed Res Int. 2018 Oct 17;2018:2610637. doi: 10.1155/2018/2610637. eCollection 2018.

5.

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.

Pilch J, Koppolu AA, Walczak A, Murcia Pienkowski VA, Biernacka A, Skiba P, Machnik-Broncel J, Gasperowicz P, Kosińska J, Rydzanicz M, Emich-Widera E, Płoski R.

Clin Genet. 2018 Oct;94(3-4):381-385. doi: 10.1111/cge.13410. Epub 2018 Aug 2.

PMID:
29938792
6.

Quantity, quality, and functionality of peripheral blood cells derived from residual blood of different apheresis kits.

Knörck A, Marx S, Friedmann KS, Zöphel S, Lieblang L, Hässig C, Müller I, Pilch J, Sester U, Hoth M, Eichler H, Sester M, Schwarz EC.

Transfusion. 2018 Jun;58(6):1516-1526. doi: 10.1111/trf.14616. Epub 2018 May 6.

PMID:
29732580
7.

Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.

Augusciak-Duma A, Witecka J, Sieron AL, Janeczko M, Pietrzyk JJ, Ochman K, Galicka A, Borszewska-Kornacka MK, Pilch J, Jakubowska-Pietkiewicz E.

Acta Biochim Pol. 2018;65(1):79-86. doi: 10.18388/abp.2017_1612. Epub 2018 Mar 15.

8.

Combined Loss of EAF2 and p53 Induces Prostate Carcinogenesis in Male Mice.

Wang Y, Pascal LE, Zhong M, Ai J, Wang D, Jing Y, Pilch J, Song Q, Rigatti LH, Graham LE, Nelson JB, Parwani AV, Wang Z.

Endocrinology. 2017 Dec 1;158(12):4189-4205. doi: 10.1210/en.2017-00409.

9.

Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.

Jenkins ZA, Macharg A, Chang CY, van Kogelenberg M, Morgan T, Frentz S, Wei W, Pilch J, Hannibal M, Foulds N, McGillivray G, Leventer RJ, García-Miñaúr S, Sugito S, Nightingale S, Markie DM, Dudding T, Kapur RP, Robertson SP.

Hum Mutat. 2018 Jan;39(1):103-113. doi: 10.1002/humu.23355. Epub 2017 Nov 2.

PMID:
29024177
10.

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS, Kariminejad A, Koch J, Kraenzlin M, Lahiri N, Lozic B, Manzur AY, Morton JEV, Pilch J, Pollitt RC, Schreiber G, Shannon NL, Sobey G, Vandersteen A, van Dijk FS, Witsch-Baumgartner M, Zschocke J, Pope FM, Bönnemann CG, Rohrbach M.

Genet Med. 2018 Jan;20(1):42-54. doi: 10.1038/gim.2017.70. Epub 2017 Jun 15.

11.

A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene.

Zimowski JG, Pilch J, Pawelec M, Purzycka JK, Kubalska J, Ziora-Jakutowicz K, Dudzińska M, Zaremba J.

J Appl Genet. 2017 Aug;58(3):343-347. doi: 10.1007/s13353-017-0391-8. Epub 2017 Feb 28.

12.

Does the MTHFR A1298C Polymorphism Modulate the Cardiorespiratory Response to Training?

Cięszczyk P, Zarębska A, Jastrzębski Z, Sawczyn M, Kozakiewicz-Drobnik I, Leońska-Duniec A, Kaczmarczyk M, Maciejewska-Skrendo A, Żmijewski P, Trybek G, Smółka W, Pilch J, Leźnicka K, Lulińska-Kuklik E, Sawczuk M, Massidda M.

J Hum Kinet. 2016 Dec 15;54:43-53. doi: 10.1515/hukin-2016-0055. eCollection 2016 Dec 1.

13.

Grain-resolved analysis of localized deformation in nickel-titanium wire under tensile load.

Sedmák P, Pilch J, Heller L, Kopeček J, Wright J, Sedlák P, Frost M, Šittner P.

Science. 2016 Aug 5;353(6299):559-62. doi: 10.1126/science.aad6700.

14.

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

Elert-Dobkowska E, Stepniak I, Krysa W, Rajkiewicz M, Rakowicz M, Sobanska A, Rudzinska M, Wasielewska A, Pilch J, Kubalska J, Lipczynska-Lojkowska W, Kulczycki J, Kurdziel K, Sikorska A, Beetz C, Zaremba J, Sulek A.

J Neurol Sci. 2015 Dec 15;359(1-2):35-9. doi: 10.1016/j.jns.2015.10.030. Epub 2015 Oct 17.

PMID:
26671083
15.

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

Midro AT, Zollino M, Wiland E, Panasiuk B, Iwanowski PS, Murdolo M, Śmigiel R, Sąsiadek M, Pilch J, Kurpisz M.

J Assist Reprod Genet. 2016 Feb;33(2):189-97. doi: 10.1007/s10815-015-0622-z. Epub 2015 Dec 4.

16.

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction.

Piekutowska-Abramczuk D, Kocyła-Karczmarewicz B, Małkowska M, Łuczak S, Iwanicka-Pronicka K, Siegmund S, Yang H, Wen Q, Hoang QV, Silverman RH, Kowalski P, Szczypińska O, Czornak K, Zimowski J, Płoski R, Pilch J, Ciara E, Zaremba J, Krajewska-Walasek M, Schon EA, Pronicka E.

JIMD Rep. 2016;27:63-8. doi: 10.1007/8904_2015_468. Epub 2015 Oct 2.

17.

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR.

J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20.

PMID:
25795793
18.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC.

Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16.

PMID:
25792522
19.

Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

Podralska MJ, Stembalska A, Ślęzak R, Lewandowicz-Uszyńska A, Pietrucha B, Kołtan S, Wigowska-Sowińska J, Pilch J, Mosor M, Ziółkowska-Suchanek I, Dzikiewicz-Krawczyk A, Słomski R.

Mol Genet Genomic Med. 2014 Nov;2(6):504-11. doi: 10.1002/mgg3.98. Epub 2014 Jul 30.

20.

Fibronectin Matrix Formation is a Prerequisite for Colonization of Kidney Tumor Cells in Fibrin.

Knowles LM, Gurski LA, Maranchie JK, Pilch J.

J Cancer. 2015 Jan 1;6(2):98-104. doi: 10.7150/jca.10496. eCollection 2015.

21.

Relocation of CLIC1 promotes tumor cell invasion and colonization of fibrin.

Gurski LA, Knowles LM, Basse PH, Maranchie JK, Watkins SC, Pilch J.

Mol Cancer Res. 2015 Feb;13(2):273-80. doi: 10.1158/1541-7786.MCR-14-0249. Epub 2014 Sep 9.

22.

Enhancement of the physical stability of amorphous indomethacin by mixing it with octaacetylmaltose. inter and intra molecular studies.

Kaminska E, Adrjanowicz K, Zakowiecki D, Milanowski B, Tarnacka M, Hawelek L, Dulski M, Pilch J, Smolka W, Kaczmarczyk-Sedlak I, Kaminski K.

Pharm Res. 2014 Oct;31(10):2887-903. doi: 10.1007/s11095-014-1385-4. Epub 2014 May 15.

PMID:
24831310
23.

Invadopodia formation in blood clots: Not so SLUGgish after all.

Knowles LM, Maranchie JK, Pilch J.

Oncoimmunology. 2014 Jan 1;3(1):e27338.

24.

Integrin αvβ3 and fibronectin upregulate Slug in cancer cells to promote clot invasion and metastasis.

Knowles LM, Gurski LA, Engel C, Gnarra JR, Maranchie JK, Pilch J.

Cancer Res. 2013 Oct 15;73(20):6175-84. doi: 10.1158/0008-5472.CAN-13-0602. Epub 2013 Aug 21.

25.

Plasma Fibronectin Promotes Tumor Cell Survival and Invasion through Regulation of Tie2.

Knowles LM, Malik G, Pilch J.

J Cancer. 2013 Jun 21;4(5):383-90. doi: 10.7150/jca.6545. Print 2013.

26.

A new way of stabilization of furosemide upon cryogenic grinding by using acylated saccharides matrices. The role of hydrogen bonds in decomposition mechanism.

Kaminska E, Adrjanowicz K, Kaminski K, Wlodarczyk P, Hawelek L, Kolodziejczyk K, Tarnacka M, Zakowiecki D, Kaczmarczyk-Sedlak I, Pilch J, Paluch M.

Mol Pharm. 2013 May 6;10(5):1824-35. doi: 10.1021/mp300606p. Epub 2013 Apr 3.

PMID:
23510208
27.

CLT1 targets bladder cancer through integrin α5β1 and CLIC3.

Knowles LM, Zewe J, Malik G, Parwani AV, Gingrich JR, Pilch J.

Mol Cancer Res. 2013 Feb;11(2):194-203. doi: 10.1158/1541-7786.MCR-12-0300. Epub 2012 Nov 30.

28.

Dielectric studies on molecular dynamics of two important disaccharides: sucrose and trehalose.

Kaminski K, Adrjanowicz K, Zakowiecki D, Kaminska E, Wlodarczyk P, Paluch M, Pilch J, Tarnacka M.

Mol Pharm. 2012 Jun 4;9(6):1559-69. doi: 10.1021/mp2004498. Epub 2012 May 15.

PMID:
22553901
29.

Digoxin inhibits blood vessel density and HIF-1a expression in castration-resistant C4-2 xenograft prostate tumors.

Gayed BA, O'Malley KJ, Pilch J, Wang Z.

Clin Transl Sci. 2012 Feb;5(1):39-42. doi: 10.1111/j.1752-8062.2011.00376.x. Epub 2012 Feb 23.

30.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR.

Nat Genet. 2012 Feb 26;44(4):445-9, S1. doi: 10.1038/ng.1105.

PMID:
22366787
31.

CLT1 targets angiogenic endothelium through CLIC1 and fibronectin.

Knowles LM, Malik G, Hood BL, Conrads TP, Pilch J.

Angiogenesis. 2012 Mar;15(1):115-29. doi: 10.1007/s10456-011-9247-8. Epub 2011 Dec 28.

32.

Theoretical and experimental studies on the internal mobility of two sulfonylurea agents: glibenclamide and glimepiride.

Wlodarczyk P, Paluch M, Wojnarowska Z, Hawelek L, Kaminski K, Pilch J.

J Phys Condens Matter. 2011 Oct 26;23(42):425901. doi: 10.1088/0953-8984/23/42/425901.

PMID:
21983107
33.

Regenerated luminal epithelial cells are derived from preexisting luminal epithelial cells in adult mouse prostate.

Liu J, Pascal LE, Isharwal S, Metzger D, Ramos Garcia R, Pilch J, Kasper S, Williams K, Basse PH, Nelson JB, Chambon P, Wang Z.

Mol Endocrinol. 2011 Nov;25(11):1849-57. doi: 10.1210/me.2011-1081. Epub 2011 Sep 22.

34.

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.

Zimoń M, Baets J, Fabrizi GM, Jaakkola E, Kabzińska D, Pilch J, Schindler AB, Cornblath DR, Fischbeck KH, Auer-Grumbach M, Guelly C, Huber N, De Vriendt E, Timmerman V, Suter U, Hausmanowa-Petrusewicz I, Niemann A, Kochański A, De Jonghe P, Jordanova A.

Neurology. 2011 Aug 9;77(6):540-8. doi: 10.1212/WNL.0b013e318228fc70. Epub 2011 Jul 13.

35.

Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.

Iwanowski PS, Panasiuk B, Van Buggenhout G, Murdolo M, Myśliwiec M, Maas NM, Lattante S, Korniszewski L, Posmyk R, Pilch J, Zajączek S, Fryns JP, Zollino M, Midro AT.

Am J Med Genet A. 2011 Aug;155A(8):1833-47. doi: 10.1002/ajmg.a.34005. Epub 2011 Jul 8.

PMID:
21744486
36.

Surveyor nuclease detection of mutations and polymorphisms of mtDNA in children.

Pilch J, Asman M, Jamroz E, Kajor M, Kotrys-Puchalska E, Goss M, Krzak M, Witecka J, Gmiński J, Sieroń AL.

Pediatr Neurol. 2010 Nov;43(5):325-30. doi: 10.1016/j.pediatrneurol.2010.05.023.

PMID:
20933175
37.

Plasma fibronectin promotes lung metastasis by contributions to fibrin clots and tumor cell invasion.

Malik G, Knowles LM, Dhir R, Xu S, Yang S, Ruoslahti E, Pilch J.

Cancer Res. 2010 Jun 1;70(11):4327-34. doi: 10.1158/0008-5472.CAN-09-3312. Epub 2010 May 25.

38.

Dielectric properties of two diastereoisomers of the arabinose and their equimolar mixture.

Kaminski K, Kaminska E, Pawlus S, Wlodarczyk P, Paluch M, Ziolo J, Kasprzycka A, Szeja W, Ngai KL, Pilch J.

Carbohydr Res. 2009 Dec 14;344(18):2547-53. doi: 10.1016/j.carres.2009.10.001. Epub 2009 Oct 7.

PMID:
19857861
39.

Identification of the slower secondary relaxation's nature in maltose by means of theoretical and dielectric studies.

Wlodarczyk P, Kaminski K, Adrjanowicz K, Wojnarowska Z, Czarnota B, Paluch M, Ziolo J, Pilch J.

J Chem Phys. 2009 Sep 28;131(12):125103. doi: 10.1063/1.3224856.

PMID:
19791921
40.

[Diagnostic problems with long QT syndrome in 5-year-old boy].

Kostorz A, Szwed-Białozyt B, Wesołek-Kamińska B, Pilch J, Marszał E, Szydłowski L, Michalak K, Smoleńska-Petelenz J.

Wiad Lek. 2007;60(9-10):475-8. Polish.

PMID:
18350726
41.

The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem.

Smigiel R, Pilch J, Makowska I, Busza H, Slezak R, Sasiadek MM.

Eur J Pediatr. 2008 Sep;167(9):1063-5. Epub 2007 Nov 14.

PMID:
18000682
42.

Biomimetic amplification of nanoparticle homing to tumors.

Simberg D, Duza T, Park JH, Essler M, Pilch J, Zhang L, Derfus AM, Yang M, Hoffman RM, Bhatia S, Sailor MJ, Ruoslahti E.

Proc Natl Acad Sci U S A. 2007 Jan 16;104(3):932-6. Epub 2007 Jan 10.

43.

Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.

Szczaluba K, Nawara M, Poirier K, Pilch J, Gajdulewicz M, Spodar K, Chelly J, Bal J, Mazurczak T.

Neurology. 2006 Dec 12;67(11):2073-5. Epub 2006 Nov 2.

PMID:
17082467
44.

[Interleukin 2 concentration changes in the laryngeal cancer patients during the surgical treatment].

Pilch J, Namysłowski G, Scierski W, Urbaniec P, Sowińska-Krzyzanowska I.

Otolaryngol Pol. 2006;60(3):331-6. Polish.

PMID:
16989444
45.

[Interleukin-10 in laryngeal cancer patients treated by surgery or radiotherapy].

Namysłowski G, Pilch J, Scierski W, Urbaniec P, Sowińska-Krzyzanowska I.

Otolaryngol Pol. 2006;60(3):325-30. Polish.

PMID:
16989443
46.

The ARX mutations: a frequent cause of X-linked mental retardation.

Nawara M, Szczaluba K, Poirier K, Chrzanowska K, Pilch J, Bal J, Chelly J, Mazurczak T.

Am J Med Genet A. 2006 Apr 1;140(7):727-32.

PMID:
16523516
47.

Peptides selected for binding to clotted plasma accumulate in tumor stroma and wounds.

Pilch J, Brown DM, Komatsu M, Järvinen TA, Yang M, Peters D, Hoffman RM, Ruoslahti E.

Proc Natl Acad Sci U S A. 2006 Feb 21;103(8):2800-4. Epub 2006 Feb 13.

48.

The anti-angiogenic peptide anginex disrupts the cell membrane.

Pilch J, Franzin CM, Knowles LM, Ferrer FJ, Marassi FM, Ruoslahti E.

J Mol Biol. 2006 Mar 3;356(4):876-85. Epub 2005 Dec 20.

49.

Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome.

Iwanowski PS, Stengel-Rutkowski S, Anderlik L, Pilch J, Midro AT.

Genet Couns. 2005;16(1):31-40.

PMID:
15844776
50.

Angiostatic peptides use plasma fibronectin to home to angiogenic vasculature.

Akerman ME, Pilch J, Peters D, Ruoslahti E.

Proc Natl Acad Sci U S A. 2005 Feb 8;102(6):2040-5. Epub 2005 Feb 1.

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