Search Results - "Krepelova, A."

TET1 is a tumour suppressor that inhibits colon cancer growth by derepressing inhibitors of the WNT pathway by Neri, F, Dettori, D, Incarnato, D, Krepelova, A, Rapelli, S, Maldotti, M, Parlato, C, Paliogiannis, P, Oliviero, S

“…Ten eleven translocation (TET) enzymes catalyse the oxidative reactions of 5-methylcytosine (5mC) to promote the demethylation process. The reaction…”
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Aging induced changes on NEXAFS fingerprints in individual combustion particles by Zelenay, V., Mooser, R., Tritscher, T., Křepelová, A., Heringa, M. F., Chirico, R., Prévôt, A. S. H., Weingartner, E., Baltensperger, U., Dommen, J., Watts, B., Raabe, J., Huthwelker, T., Ammann, M.

“…Soot particles can significantly influence the Earth's climate by absorbing and scattering solar radiation as well as by acting as cloud condensation nuclei…”
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Atypical presentations of DYT1 dystonia with acute craniocervical onset by Pavelekova, P., Jech, R., Zech, M., Krepelova, A., Han, V., Mosejova, A., Liba, Z., Urgosik, D., Gdovinova, Z., Havrankova, P., Fecikova, A., Winkelmann, J., Skorvanek, M.

“…DYT1 gene mutations lead to early-onset dystonia that begins with focal limb onset and spreads to other body regions within 5 years, with typical sparing of…”
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Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency by Vasovcak, P., Krepelova, A., Menigatti, M., Puchmajerova, A., Skapa, P., Augustinakova, A., Amann, G., Wernstedt, A., Jiricny, J., Marra, G., Wimmer, K.

“…► We characterized the mutator phenotype of a very early onset rectal cancer. ► High frequency of C:G>T:A or G:C>A:T transitions at methylated CpG sites was…”
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Characterization and source apportionment of organic aerosol using offline aerosol mass spectrometry by Daellenbach, K. R, Bozzetti, C, Křepelová, A, Canonaco, F, Wolf, R, Zotter, P, Fermo, P, Crippa, M, Slowik, J. G, Sosedova, Y, Zhang, Y, Huang, R.-J, Poulain, L, Szidat, S, Baltensperger, U, El Haddad, I, Prévôt, A. S. H

“…Field deployments of the Aerodyne Aerosol Mass Spectrometer (AMS) have significantly advanced real-time measurements and source apportionment of non-refractory…”
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Biochemical markers and genetic research of ADHD by Paclt, I, Koudelová, J, Krepelová, A, Uhlíková, P, Gazdíková, M, Bauer, P

“…ADHD (attention hyperactivity disorder) is a polygenetic disorder with various candidate genes. At this time, more than thirty dopaminergic, noradrenergic,…”
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Utilization of the growth phase of the first follicular wave for bovine oocyte collection improves blastocyst production by Machatkova, M., Jokesova, E., Horky, F., Krepelova, A.

“…Characteristics of the follicle population and oocyte developmental competence at selected stages of follicular development were studied in cows with the aim…”
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Does polymorphism C1377T of the calcitonin receptor gene determine bone mineral density in postmenopausal women? by Zofková, I, Zajícková, K, Hill, M, Krepelová, A

“…In a cross-sectional study we investigated the potential association between CALCR polymorphism (C1377T) and bone mineral density in 114 postmenopausal women…”
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Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring by Paděrová, J., Holubová, A., Simandlová, M., Puchmajerová, A., Vlčková, M., Malíková, M., Pourová, R., Vejvalková, S., Havlovicová, M., Šenkeříková, M., Ptáková, N., Drábová, J., Geryk, J., Maver, A., Křepelová, A., Macek Jr, M.

“…Kabuki syndrome (KS) is a dominantly inherited disorder mainly due to de novo pathogenic variation in KMT2D or KDM6A genes. Initially, a representative cohort…”
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Rectal carcinoma after radiotherapy for cervical carcinoma in patients with a family history of colorectal carcinoma: report of two cases by Melichar, B, Ryska, A, Krepelová, A, Holecková, P

“…Rectal carcinoma is a rare, but well documented late complication of pelvic irradiation. Little is known about the factors predisposing to the development of…”
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PML and TRF2 protein expression in hereditary and sporadic colon cancer by Plevová, P, Bouchal, J, Fiurásková, M, Papezová, M, Krepelová, A, Curík, R, Foretová, L, Navrátilová, M, Zapletalová, J, Posolda, T, Kolár, Z

“…The PML (promyelocytic leukemia) protein is concentrated in the PML nuclear bodies. In human cell lines and tumors maintaining their telomeres by alternative…”
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Histone Crosstalk between H3S10ph and H4K16ac Generates a Histone Code that Mediates Transcription Elongation by Zippo, Alessio, Serafini, Riccardo, Rocchigiani, Marina, Pennacchini, Susanna, Krepelova, Anna, Oliviero, Salvatore

“…The phosphorylation of the serine 10 at histone H3 has been shown to be important for transcriptional activation. Here, we report the molecular mechanism…”
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Immunohistochemical detection of the hMLH1 and hMSH2 proteins in hereditary non-polyposis colon cancer and sporadic colon cancer by Plevová, P, Krepelová, A, Papezová, M, Sedláková, E, Curík, R, Foretová, L, Navrátilová, M, Novotný, J, Zapletalová, J, Palas, J, Nieslanik, J, Horácek, J, Dvorácková, J, Kolár, Z

“…Defects in DNA mismatch repair system are involved in carcinogenesis of sporadic and inherited human cancers. We assessed the feasibility of using…”
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Germline variants of the promyelocytic leukemia tumor suppressor gene in patients with familial cancer by Plevova, P, Walczyskova, S, Jeziskova, I, Jurckova, N, Krepelova, A, Puchmajerova, A, Pavlikova, K, Foretova, L, Zapletalova, J, Silhanova, E

“…The promyelocytic leukemia (PML) gene is an important tumor suppressor gene. We tested the hypothesis that germline disruption of the PML gene may be…”
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A Single Nucleotide Polymorphism Under the Reverse Primer Binding Site May Lead to BsmI Mis‐Genotyping in the Vitamin D Receptor Gene by ZAJICKOVA, K, KREPELOVA, A, ZOFKOVA, I

“…The BsmI polymorphism in the VDR gene has been extensively investigated by PCR and restriction digestion in bone genetics. A SNP within the corresponding…”
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PP3.9 – 1603 Alternating hemiplegia in childhood – a clinical and genetic study by Nevsimalova, S, Krepelova, A, Kemlink, D

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Factor VIII gene mutations and RFLP analysis in hemophilia A by Krepelová, A, Brdicka, R, Vorlová, Z

“…Hemophilia A is an X-linked bleeding disorder caused by a quantitative or qualitative defect of coagulation factor VIII. Since factor VIII has been cloned and…”
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Vitamin D receptor gene polymorphisms, bone mineral density and bone turnover: FokI genotype is related to postmenopausal bone mass by Zajícková, K, Zofková, I, Bahbouh, R, Krepelová, A

“…The relationship between vitamin D receptor (VDR) intragenic polymorphisms FokI, BsmI, ApaI and TaqI and bone mineral density (BMD) or biochemical markers of…”
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Increased expression of inhibitor of apoptosis proteins, survivin and XIAP, in non-small cell lung carcinoma by KREPELA, Evzen, DANKOVA, Petra, MORAVCIKOVA, Erika, KREPELOV A, Anna, PROCHAZKAI, Jan, CERMAK, Jan, SCHÜTZNER, Jan, ZATLOUKAL, Petr, BENKOVA, Kamila

“…Members of the inhibitor of apoptosis protein (IAP) family, survivin and X-chromosome-linked IAP (XIAP), contribute to apoptosis resistance of cancer cells,…”
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Factor VIII gene deletions in haemophilia A patients in Czechoslovakia by Krepelová, A, Vorlová, Z, Zavadil, J, Brdicka, R

“…Genomic DNA from 90 Czechoslovak haemophilia A patients from 81 pedigrees was analysed by Southern blotting and hybridization with factor VIII cDNA probes…”
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