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Literature DB >> 19396465

X chromosome inactivation in clinical practice.

Abstract

X chromosome inactivation (XCI) is the transcriptional silencing of the majority of genes on one of the two X chromosomes in mammalian females. Females are, therefore, mosaics for two cell lines, one with the maternal X and one with the paternal X as the active chromosome. The relative proportion of the two cell lines, the X inactivation pattern, may be analyzed by simple assays in DNA from available tissues. This review focuses on medical issues related to XCI in X-linked disorders, and on the value of X inactivation analysis in clinical practice.

Entities: Disease Species

Mesh：

Year: 2009 PMID： 19396465 DOI： 10.1007/s00439-009-0670-5

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

112 in total

1. The dynamics of X-inactivation skewing as women age.

Authors: C Hatakeyama; C L Anderson; C L Beever; M S Peñaherrera; C J Brown; W P Robinson
Journal: Clin Genet Date: 2004-10 Impact factor: 4.438

2. No longer 'all-or-none'.

Authors: Mary F Lyon
Journal: Eur J Hum Genet Date: 2005-07 Impact factor: 4.246

3. Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.

Authors: Takahito Wada; Hideo Sugie; Yoshimitsu Fukushima; Shinji Saitoh
Journal: Am J Med Genet A Date: 2005-09-15 Impact factor: 2.802

4. Disease manifestations and X inactivation in heterozygous females with Fabry disease.

Authors: Esther M Maier; Stephanie Osterrieder; Catharina Whybra; Markus Ries; Andreas Gal; Michael Beck; Adelbert A Roscher; Ania C Muntau
Journal: Acta Paediatr Suppl Date: 2006-04

Review 5. Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases.

Authors: M Schmidt; D Du Sart
Journal: Am J Med Genet Date: 1992-01-15

6. Hematopoiesis is not clonal in healthy elderly women.

Authors: Sabina I Swierczek; Neeraj Agarwal; Roberto H Nussenzveig; Gerald Rothstein; Andrew Wilson; Andrew Artz; Josef T Prchal
Journal: Blood Date: 2008-07-18 Impact factor: 22.113

7. Heritability of X chromosome--inactivation phenotype in a large family.

Authors: A K Naumova; R M Plenge; L M Bird; M Leppert; K Morgan; H F Willard; C Sapienza
Journal: Am J Hum Genet Date: 1996-06 Impact factor: 11.025

8. X inactivation in females with X-linked disease.

Authors: J M Puck; H F Willard
Journal: N Engl J Med Date: 1998-01-29 Impact factor: 91.245

9. X-inactivation patterns in carriers of X-linked myotubular myopathy.

Authors: M Kristiansen; G P Knudsen; S M Tanner; M McEntagart; H Jungbluth; F Muntoni; C Sewry; S Gallati; K H Ørstavik; C Wallgren-Pettersson
Journal: Neuromuscul Disord Date: 2003-08 Impact factor: 4.296

Review 10. The X chromosome and fragile X mental retardation.

Authors: B A Oostra; R Willemsen
Journal: Cytogenet Genome Res Date: 2002 Impact factor: 1.636

35 in total

1. The Role of X-Chromosome Inactivation in Retinal Development and Disease.

Authors: Abigail T Fahim; Stephen P Daiger
Journal: Adv Exp Med Biol Date: 2016 Impact factor: 2.622

2. Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice.

Authors: Nisa K E Renault; Sonja M Pritchett; Robin E Howell; Wenda L Greer; Carmen Sapienza; Karen Helene Ørstavik; David C Hamilton
Journal: Eur J Hum Genet Date: 2013-05-08 Impact factor: 4.246

3. Lionizing lyonization 50 years on.

Authors: David N Cooper
Journal: Hum Genet Date: 2011-08 Impact factor: 4.132

4. Three new loci for determining x chromosome inactivation patterns.

Authors: Birgitte Bertelsen; Zeynep Tümer; Kirstine Ravn
Journal: J Mol Diagn Date: 2011-07-02 Impact factor: 5.568

5. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

Authors: Yu Sun; Rowida Almomani; Emmelien Aten; Jacopo Celli; Jaap van der Heijden; Hanka Venselaar; Stephen P Robertson; Anna Baroncini; Brunella Franco; Lina Basel-Vanagaite; Emiko Horii; Ricardo Drut; Yavuz Ariyurek; Johan T den Dunnen; Martijn H Breuning
Journal: Am J Hum Genet Date: 2010-07-09 Impact factor: 11.025

6. De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.

Authors: Nathalie Fieremans; Marijke Bauters; Stefanie Belet; Jelle Verbeeck; Anna C Jansen; Sara Seneca; Filip Roelens; Elfride De Baere; Peter Marynen; Guy Froyen
Journal: Hum Genet Date: 2014-07-19 Impact factor: 4.132

Review 7. Epigenetic modifications: basic mechanisms and role in cardiovascular disease.

Authors: Diane E Handy; Rita Castro; Joseph Loscalzo
Journal: Circulation Date: 2011-05-17 Impact factor: 29.690

8. A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.

Authors: Xi Yang; Akihiro Hoshino; Takashi Taga; Tomoaki Kunitsu; Yuhachi Ikeda; Takahiro Yasumi; Kenichi Yoshida; Taizo Wada; Kunio Miyake; Takeo Kubota; Yusuke Okuno; Hideki Muramatsu; Yuichi Adachi; Satoru Miyano; Seishi Ogawa; Seiji Kojima; Hirokazu Kanegane
Journal: J Clin Immunol Date: 2015-03-07 Impact factor: 8.317

9. Skewed X inactivation in Lesch-Nyhan disease carrier females.

Authors: Rosa J Torres; Juan G Puig
Journal: J Hum Genet Date: 2017-09-14 Impact factor: 3.172

Review 10. Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.

Authors: Emanuela Viggiano; Manuela Ergoli; Esther Picillo; Luisa Politano
Journal: Hum Genet Date: 2016-04-21 Impact factor: 4.132