Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Jakub Minks"'
Autor:
Dita Musalkova, Jan Lukas, M. Hrebicek, Lenka Dvorakova, Ondrej Luksan, Eva Richtrova, Lenka Mrázová, Larisa Stolnaya, Jakub Minks, Milan Jirsa
Publikováno v:
Gene. 592:36-42
Acetyl-CoA:α-glucosaminide N -acetyltransferase ( N -acetyltransferase) is a lysosomal membrane enzyme that catalyzes a key step in the lysosomal degradation of heparan sulfate. Its deficiency causes Sanfilippo syndrome type IIIC (Mucopolysaccharido
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28e4a56017935ffdf9bb44bb2f19aa97
https://doi.org/10.1016/j.gene.2016.07.051
https://doi.org/10.1016/j.gene.2016.07.051
Publikováno v:
Blood Cells, Molecules, and Diseases. 54:210-216
The HUMARA assay, the most common method for evaluation of X-inactivation skewing in blood cells, has been reported to be usable in only about 80% of females, emphasizing the need for alternative methods for testing of HUMARA-uninformative individual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cc65722b9989ddccf1c26673d4438d6
https://doi.org/10.1016/j.bcmd.2014.10.001
https://doi.org/10.1016/j.bcmd.2014.10.001
Autor:
Hana Vlaskova, Michaela Bouckova, Milan Jirsa, M. Hrebicek, Gabriela Storkanova, Jitka Eberova, Lenka Dvorakova, Ondrej Luksan, Jakub Minks, Helena Trešlová
Publikováno v:
Human Mutation. 31:E1294-E1303
In a female patient with signs of ornithine carbamoyltransferase deficiency (OTCD), the only variation found was a heterozygous single nucleotide substitution c.-366A>G. Determination of transcription start sites of human OTC 95, 119 and 169 bp upstr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4bd7012d8b69faeac6e84f9c76c483b
https://doi.org/10.1002/humu.21215
https://doi.org/10.1002/humu.21215
Autor:
Jakub Minks, Carolyn J. Brown
Publikováno v:
Biochemistry and Cell Biology. 87:759-766
X-chromosome inactivation is a fascinating epigenetic phenomenon that is initiated by expression of a noncoding (nc)RNA, XIST, and results in transcriptional silencing of 1 female X. The process requires a series of events that begins even before XIS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::382950f724595f04308224596c006072
https://doi.org/10.1139/o09-040
https://doi.org/10.1139/o09-040
Autor:
Jakub Minks, Ivan Rychlik, Lenka Dvorakova, Vernerová Z, Larisa Stolnaja, M. Hrebicek, Blanka Stiburkova, Ivan Sebesta
Publikováno v:
Nucleosides, Nucleotides and Nucleic Acids. 27:648-655
Female carriers of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency have somatic cell mosaicism of HPRT activity and are healthy. We report a 50-year-old woman without gout or nephrolithiasis. She was never on allopurinol. Normal seru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1daaee21bea169c477409ac9344ab53b
https://doi.org/10.1080/15257770802143863
https://doi.org/10.1080/15257770802143863
Autor:
Andrew G. Chapman, Christine Yang, Angela D. Kelsey, Jakub Minks, Carolyn J. Brown, Allison M. Cotton
Publikováno v:
Human genetics. 130(2)
X-chromosome inactivation is an epigenetic process whereby one X chromosome is silenced in mammalian female cells. Since it was first proposed by Lyon in 1961, mouse models have been valuable tools to uncover the molecular mechanisms underlying X ina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae9d9a8d432a1bbf99557cc2514a035d
https://pubmed.ncbi.nlm.nih.gov/21553122
https://pubmed.ncbi.nlm.nih.gov/21553122
Autor:
Ondřej Lukšan, Jitka Eberova, Eva Svobodová, Deborah Elstein, Milan Jirsa, Ari Zimran, Lenka Dvořáková, Martin Hřebíček, Jakub Minks, Lenka Mrázová, Larisa Stolnaya
Publikováno v:
Blood cells, moleculesdiseases. 46(3)
Database searches have shown that a part of glucocerebrosidase ( GBA ) transcripts may originate at an alternative upstream promoter (P2) located 2.6 kb upstream of the known (P1) GBA promoter. The putative alternative transcripts contained one or tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdd79cad1572b4cdef224591c18fa2bd
https://pubmed.ncbi.nlm.nih.gov/21256059
https://pubmed.ncbi.nlm.nih.gov/21256059
Autor:
Jakub, Minks, Carolyn J, Brown
Publikováno v:
Biochemistry and cell biology = Biochimie et biologie cellulaire. 87(5)
X-chromosome inactivation is a fascinating epigenetic phenomenon that is initiated by expression of a noncoding (nc)RNA, XIST, and results in transcriptional silencing of 1 female X. The process requires a series of events that begins even before XIS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9c5e15fad584123b8f34d92ba6315df3
https://pubmed.ncbi.nlm.nih.gov/19898525
https://pubmed.ncbi.nlm.nih.gov/19898525
Autor:
Allison M. Cotton, Carolyn J. Brown, Jakub Minks, Sharan K. SidhuS.K. Sidhu, Samuel C. ChangS.C. Chang
Publikováno v:
Biochemistry and cell biology = Biochimie et biologie cellulaire. 86(5)
The silent X chromosome in mammalian females is a classic example of facultative heterochromatin, the term highlighting the compacted and inactive nature of the chromosome. However, it is now clear that the heterochromatin of the inactive X is not ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::538cf87a467a17be7e6325bb48e27cdb
https://pubmed.ncbi.nlm.nih.gov/18923538
https://pubmed.ncbi.nlm.nih.gov/18923538
Publikováno v:
The Journal of clinical investigation. 118(1)
Skewing of X chromosome inactivation (XCI) can occur in normal females and increases in tissues with age. The mechanisms underlying skewing in normal females, however, remain controversial. To better understand the phenomenon of XCI in nondisease sta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b21b0692a1618772e63fc29a886ce63c
https://pubmed.ncbi.nlm.nih.gov/18097474
https://pubmed.ncbi.nlm.nih.gov/18097474