Comment on Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 2022, 13, 1268-Reference-Cited by-同舟云学术

Comment on Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 2022, 13, 1268

Published:2023-11-29 Issue:12 Volume:14 Page:2160
ISSN:2073-4425
Container-title:Genes
language:en
Short-container-title:Genes

Author:

Fry Lewis E.¹²^ORCID,MacLaren Robert E.¹³

Affiliation:

1. Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK

2. The Royal Victorian Eye and Ear Hospital, East Melbourne, VIC 3002, Australia

3. Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK

Abstract

The recent publication of Di Giosaffatte et al. [...]

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

Link

https://www.mdpi.com/2073-4425/14/12/2160/pdf

Reference9 articles.

1. Di Giosaffatte, N., Valiante, M., Tricarico, S., Parise, G., De Negri, A.M., Ricciotti, G., Florean, L., Paiardini, A., Bottillo, I., and Grammatico, P. (2022). A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes, 13.

2. Gene Action in the X-chromosome of the Mouse (Mus musculus L.);Lyon;Nature,1961

3. Cellular Resolution Maps of X Chromosome Inactivation: Implications for Neural Development, Function, and Disease;Wu;Neuron,2014

4. Correlation of retinal structure and function in choroideremia carriers;Edwards;Ophthalmology,2015

5. Skewed X-inactivation is common in the general female population;Shvetsova;Eur. J. Hum. Genet.,2019

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1. Measuring X inactivation skew for retinal diseases with adaptive nanopore sequencing;2024-03-23

2. Reply to Fry, L.E.; MacLaren, R.E. Comment on “Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 2022, 13, 1268”;Genes;2023-11-29