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Quoted phrase not found in phrase index: "Skewed maternal X inactivation"
Page 1
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Giovenino C, Trajkova S, Pavinato L, Cardaropoli S, Pullano V, Ferrero E, Sukarova-Angelovska E, Carestiato S, Salmin P, Rinninella A, Battaglia A, Bertoli L, Fadda A, Palermo F, Carli D, Mussa A, Dimartino P, Bruselles A, Froukh T, Mandrile G, Pasini B, De Rubeis S, Buxbaum JD, Pippucci T, Tartaglia M, Rossato M, Delledonne M, Ferrero GB, Brusco A. Giovenino C, et al. Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6. Eur J Hum Genet. 2023. PMID: 36879111
A point in case is our clinically heterogeneous cohort of NDD patients that remained undiagnosed after FRAXA testing, chromosomal microarray analysis and trio exome sequencing (ES). In this study, we explored the frequency of non-random X chromosome inacti …
A point in case is our clinically heterogeneous cohort of NDD patients that remained undiagnosed after FRAXA testing, chromosomal microarray …
X-chromosome inactivation patterns depend on age and tissue but not conception method in humans.
Juchniewicz P, Kloska A, Portalska K, Jakóbkiewicz-Banecka J, Węgrzyn G, Liss J, Głodek P, Tukaj S, Piotrowska E. Juchniewicz P, et al. Chromosome Res. 2023 Jan 25;31(1):4. doi: 10.1007/s10577-023-09717-9. Chromosome Res. 2023. PMID: 36695960 Free PMC article.
Female somatic X-chromosome inactivation (XCI) balances the X-linked transcriptional dosages between the sexes, randomly silencing the maternal or paternal X chromosome in each cell of 46,XX females. ...The differences in gene expression pattern …
Female somatic X-chromosome inactivation (XCI) balances the X-linked transcriptional dosages between the sexes, rand …
Skewed X-inactivation is common in the general female population.
Shvetsova E, Sofronova A, Monajemi R, Gagalova K, Draisma HHM, White SJ, Santen GWE, Chuva de Sousa Lopes SM, Heijmans BT, van Meurs J, Jansen R, Franke L, Kiełbasa SM, den Dunnen JT, 't Hoen PAC; BIOS consortium; GoNL consortium. Shvetsova E, et al. Eur J Hum Genet. 2019 Mar;27(3):455-465. doi: 10.1038/s41431-018-0291-3. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552425 Free PMC article.
Skewed X-inactivation is often explained by negative selection of one of the alleles. ...Genes escaping X-inactivation are expressed from both alleles and therefore demonstrate less skewing than inactivated genes. ...
Skewed X-inactivation is often explained by negative selection of one of the alleles. ...Genes escaping X-ina …
Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy.
Viggiano E, Picillo E, Ergoli M, Cirillo A, Del Gaudio S, Politano L. Viggiano E, et al. J Gene Med. 2017 Apr;19(4). doi: 10.1002/jgm.2952. J Gene Med. 2017. PMID: 28316128
Female carriers are usually asymptomatic, although 2.5-18% may present muscle or heart symptoms. In the present study, the role of the X chromosome inactivation (XCI) on the onset of symptoms in BMD carriers was analysed and compared with the pattern observed …
Female carriers are usually asymptomatic, although 2.5-18% may present muscle or heart symptoms. In the present study, the role of the X …
Age acquired skewed X chromosome inactivation is associated with adverse health outcomes in humans.
Roberts AL, Morea A, Amar A, Zito A, El-Sayed Moustafa JS, Tomlinson M, Bowyer RCE, Zhang X, Christiansen C, Costeira R, Steves CJ, Mangino M, Bell JT, Wong CCY, Vyse TJ, Small KS. Roberts AL, et al. Elife. 2022 Nov 22;11:e78263. doi: 10.7554/eLife.78263. Elife. 2022. PMID: 36412098 Free PMC article.
BACKGROUND: Ageing is a heterogenous process characterised by cellular and molecular hallmarks, including changes to haematopoietic stem cells and is a primary risk factor for chronic diseases. X chromosome inactivation (XCI) randomly transcriptionally …
BACKGROUND: Ageing is a heterogenous process characterised by cellular and molecular hallmarks, including changes to haematopoietic stem cel …
Non-random X chromosome inactivation in mammalian cells.
Migeon BR. Migeon BR. Cytogenet Cell Genet. 1998;80(1-4):142-8. doi: 10.1159/000014971. Cytogenet Cell Genet. 1998. PMID: 9678349 Review.
However, there are variations on the theme of random inactivation, namely paternal X inactivation in marsupials and in placental tissues of some mammals. ...I suggest that the skewing of inactivation patterns observed in human females most often occurs …
However, there are variations on the theme of random inactivation, namely paternal X inactivation in marsupials and in …
Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease.
Fadra N, Schultz-Rogers LE, Chanana P, Cousin MA, Macke EL, Ferrer A, Pinto E Vairo F, Olson RJ, Oliver GR, Mulvihill LA, Jenkinson G, Klee EW. Fadra N, et al. BMC Genomics. 2024 Apr 16;25(1):371. doi: 10.1186/s12864-024-10240-2. BMC Genomics. 2024. PMID: 38627676 Free PMC article.
BACKGROUND: X-chromosome inactivation (XCI) is an epigenetic process that occurs during early development in mammalian females by randomly silencing one of two copies of the X chromosome in each cell. The preferential inactivation of either the mate …
BACKGROUND: X-chromosome inactivation (XCI) is an epigenetic process that occurs during early development in mammalian …
Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
Gieldon L, Mackenroth L, Betcheva-Krajcir E, Rump A, Beck-Wödl S, Schallner J, Di Donato N, Schröck E, Tzschach A. Gieldon L, et al. Am J Med Genet A. 2017 Sep;173(9):2545-2550. doi: 10.1002/ajmg.a.38348. Epub 2017 Aug 4. Am J Med Genet A. 2017. PMID: 28777483
The majority of female heterozygous mutation carriers was healthy and had random X-inactivation patterns. We report on an XLID family with a novel DLG3 mutation. ...The proband's healthy mother also had skewed X-inactivation but in the op …
The majority of female heterozygous mutation carriers was healthy and had random X-inactivation patterns. We report on …
Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing.
Szelinger S, Malenica I, Corneveaux JJ, Siniard AL, Kurdoglu AA, Ramsey KM, Schrauwen I, Trent JM, Narayanan V, Huentelman MJ, Craig DW. Szelinger S, et al. PLoS One. 2014 Dec 12;9(12):e113036. doi: 10.1371/journal.pone.0113036. eCollection 2014. PLoS One. 2014. PMID: 25503791 Free PMC article.
In females, X chromosome inactivation (XCI) is an epigenetic, gene dosage compensatory mechanism by inactivation of one copy of X in cells. ...Skewed XCI ratio is suggestive of non-random inactivation, which can play an important role in X-linke …
In females, X chromosome inactivation (XCI) is an epigenetic, gene dosage compensatory mechanism by inactivation of one …
Familial skewed X-chromosome inactivation linked to a component of the cohesin complex, SA2.
Renault NK, Renault MP, Copeland E, Howell RE, Greer WL. Renault NK, et al. J Hum Genet. 2011 May;56(5):390-7. doi: 10.1038/jhg.2011.25. Epub 2011 Mar 17. J Hum Genet. 2011. PMID: 21412246
The gene dosage inequality between females with two X-chromosomes and males with one is compensated for by X-chromosome inactivation (XCI), which ensures the silencing of one X in every somatic cell of female mammals. ...The distribution of X-inacti …
The gene dosage inequality between females with two X-chromosomes and males with one is compensated for by X-chromosome ina …
56 results