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Items: 16

1.

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.

Li J, Ritelli M, Ma CS, Rao G, Habib T, Corvilain E, Bougarn S, Cypowyj S, Grodecká L, Lévy R, Béziat V, Shang L, Payne K, Avery DT, Migaud M, Boucherit S, Boughorbel S, Guennoun A, Chrabieh M, Rapaport F, Bigio B, Itan Y, Boisson B, Cormier-Daire V, Syx D, Malfait F, Zoppi N, Abel L, Freiberger T, Dietz HC, Marr N, Tangye SG, Colombi M, Casanova JL, Puel A.

Sci Immunol. 2019 Nov 29;4(41). pii: eaax7965. doi: 10.1126/sciimmunol.aax7965.

PMID:
31784499
2.

High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing.

Souček P, Réblová K, Kramárek M, Radová L, Grymová T, Hujová P, Kováčová T, Lexa M, Grodecká L, Freiberger T.

RNA Biol. 2019 Oct;16(10):1364-1376. doi: 10.1080/15476286.2019.1630796. Epub 2019 Jun 19.

PMID:
31213135
3.

Impact of acceptor splice site NAGTAG motif on exon recognition.

Hujová P, Grodecká L, Souček P, Freiberger T.

Mol Biol Rep. 2019 Jun;46(3):2877-2884. doi: 10.1007/s11033-019-04734-6. Epub 2019 Mar 6.

PMID:
30840204
4.

SERPING1 exon 3 splicing variants using alternative acceptor splice sites.

Grymová T, Grodecká L, Souček P, Freiberger T.

Mol Immunol. 2019 Mar;107:91-96. doi: 10.1016/j.molimm.2019.01.007. Epub 2019 Jan 24.

PMID:
30685616
5.

Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

Grodecká L, Buratti E, Freiberger T.

Int J Mol Sci. 2017 Jul 31;18(8). pii: E1668. doi: 10.3390/ijms18081668. Review.

6.

Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.

Grodecká L, Hujová P, Kramárek M, Kršjaková T, Kováčová T, Vondrášková K, Ravčuková B, Hrnčířová K, Souček P, Freiberger T.

Clin Immunol. 2017 Jul;180:33-44. doi: 10.1016/j.clim.2017.03.010. Epub 2017 Mar 27.

PMID:
28359783
7.

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.

Grodecká L, Kováčová T, Kramárek M, Seneca S, Stouffs K, De Laet C, Majer F, Kršjaková T, Hujová P, Hrnčířová K, Souček P, Lissens W, Buratti E, Freiberger T.

J Mol Med (Berl). 2017 Mar;95(3):299-309. doi: 10.1007/s00109-016-1484-2. Epub 2016 Nov 12.

PMID:
27837218
8.

No major effect of the CDH1 c.2440-6C>G mutation on splicing detected in last exon-specific splicing minigene assay.

Grodecká L, Kramárek M, Lockerová P, Kováčová T, Ravčuková B, Richterová R, Kyselová K, Augste E, Freiberger T.

Genes Chromosomes Cancer. 2014 Sep;53(9):798-801. doi: 10.1002/gcc.22186. Epub 2014 May 12. No abstract available.

PMID:
24817184
9.

Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.

Sípek A Jr, Grodecká L, Baxová A, Cibulková P, Dvořáková M, Mazurová S, Magner M, Zeman J, Honzík T, Freiberger T.

Am J Med Genet A. 2014 Jun;164A(6):1559-64. doi: 10.1002/ajmg.a.36480. Epub 2014 Mar 25.

PMID:
24668922
10.

Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools.

Grodecká L, Lockerová P, Ravčuková B, Buratti E, Baralle FE, Dušek L, Freiberger T.

PLoS One. 2014 Feb 21;9(2):e89570. doi: 10.1371/journal.pone.0089570. eCollection 2014.

11.

Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations.

Freiberger T, Ravčuková B, Grodecká L, Pikulová Z, Stikarovská D, Pešák S, Kuklínek P, Jarkovský J, Salzer U, Litzman J.

Hum Immunol. 2012 Nov;73(11):1147-54. doi: 10.1016/j.humimm.2012.07.342. Epub 2012 Aug 9.

PMID:
22884984
12.

No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene.

Freiberger T, Grombiříková H, Ravčuková B, Jarkovský J, Kuklínek P, Kryštůfková O, Hanzlíková J, Daňková E, Kopecký O, Zachová R, Lahodná M, Vašáková M, Grodecká L, Litzman J.

Scand J Immunol. 2011 Jul;74(1):100-6. doi: 10.1111/j.1365-3083.2011.02547.x.

13.

Myocardial injury is decreased by late remote ischaemic preconditioning and aggravated by tramadol in patients undergoing cardiac surgery: a randomised controlled trial.

Wagner R, Piler P, Bedanova H, Adamek P, Grodecka L, Freiberger T.

Interact Cardiovasc Thorac Surg. 2010 Dec;11(6):758-62. doi: 10.1510/icvts.2010.243600. Epub 2010 Sep 16.

PMID:
20847065
14.

Association of FcRn expression with lung abnormalities and IVIG catabolism in patients with common variable immunodeficiency.

Freiberger T, Grodecká L, Ravcuková B, Kurecová B, Postránecká V, Vlcek J, Jarkovský J, Thon V, Litzman J.

Clin Immunol. 2010 Sep;136(3):419-25. doi: 10.1016/j.clim.2010.05.006.

PMID:
20627700
15.

No association of FCRN promoter VNTR polymorphism with the rate of maternal-fetal IgG transfer.

Freiberger T, Ravcuková B, Grodecká L, Kurecová B, Jarkovský J, Bartonková D, Thon V, Litzman J.

J Reprod Immunol. 2010 Jun;85(2):193-7. doi: 10.1016/j.jri.2010.04.002. Epub 2010 May 7.

PMID:
20452034
16.

The production of mannan-binding lectin is dependent upon thyroid hormones regardless of the genotype: a cohort study of 95 patients with autoimmune thyroid disorders.

Potlukova E, Jiskra J, Freiberger T, Limanova Z, Zivorova D, Malickova K, Springer D, Grodecka L, Antosova M, Telicka Z, Pesickova SS, Trendelenburg M.

Clin Immunol. 2010 Jul;136(1):123-9. doi: 10.1016/j.clim.2010.02.015. Epub 2010 Mar 30.

PMID:
20356797

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