Differential regulation of twoFLNAtranscripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies

Author:

Jenkins Zandra A1ORCID,Macharg Alison1,Chang Cheng-Yee1,van Kogelenberg Margriet1,Morgan Tim1,Frentz Sophia1,Wei Wenhua1,Pilch Jacek2,Hannibal Mark3,Foulds Nicola4,McGillivray George5,Leventer Richard J6,García-Miñaúr Sixto7,Sugito Stuart8,Nightingale Scott9,Markie David M10,Dudding Tracy8ORCID,Kapur Raj P11,Robertson Stephen P1

Affiliation:

1. Department of Women's and Children's Health; Dunedin School of Medicine; University of Otago; Dunedin New Zealand

2. Department of Child Neurology; Medical University of Silesia; Katowice Poland

3. Department of Medical Genetics; Seattle Children's Hospital; Seattle Washington

4. Wessex Regional Genetics Service; Southampton UK

5. Victorian Clinical Genetics Service; Royal Children's Hospital; Melbourne Australia

6. Department of Neurology; Royal Children's Hospital; Murdoch Childrens Research Institute and University of Melbourne; Department of Paediatrics; Melbourne Australia

7. Department of Medical Genetics; Hospital Universitario La Paz; Madrid Spain

8. Hunter Genetics; Newcastle Australia

9. University of Newcastle; GrowUpWell Priority Research Centre; Newcastle UK

10. Department of Pathology; Dunedin School of Medicine; University of Otago; Dunedin New Zealand

11. Department of Laboratories; Seattle Children's Hospital; Seattle Washington

Funder

Curekids NZ

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;American Journal of Human Genetics,1992

2. Chronic intestinal pseudo-obstruction;Antonucci;World Journal of Gastroenterology,2008

3. The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28;Auricchio;American Journal of Human Genetics,1996

4. Gain-of-function mutation in filamin A potentiates platelet integrin alphaIIbbeta3 activation;Berrou;Arteriosclerosis, Thrombosis, and Vascular Biology,2017

5. Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance;Clayton-Smith;European Journal of Human Genetics,2008

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