- Jul 2018
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europepmc.org europepmc.org
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On 2015 Nov 03, Richard Kellermayer commented:
I greatly appreciate the responses by Alessandro Borghi and colleagues to our comments in http://www-ncbi-nlm-nih-gov.ezproxyhost.library.tmc.edu/pubmed/26517976. Unfortunately, I still don’t find the answers to our questions within their responses:
Why didn’t they identify the ATP2C1 mutation in the patient of their original report, http://www-ncbi-nlm-nih-gov.ezproxyhost.library.tmc.edu/pubmed/25430969? The genetic analysis would have aided the clinical diagnosis, and may have provided pharmacogenetic insights.
Why they propose that HeLa cells are a relevant model for Hailey-Hailey disease (HHD) that exclusively affects the epidermis?
Why they failed to reference our pioneering work (http://www-ncbi-nlm-nih-gov.ezproxyhost.library.tmc.edu/pubmed/16143464) on examining the role of magnesium in a yeast model of HHD, which has been shown to be relevant for testing therapeutic agents against the disease? Our publication was the only pertinent reference in PubMed in respect to magnesium and HHD prior to 2015.
On the contrary to Alessandro Borghi and colleagues, a layperson who has family members suffering from the disease kindly called my attention to the findings of Borghi, et al. in October of 2015, by stating the following: “Just wanted you to know that your pioneering research on PMR1 has inadvertently led to a clinical breakthrough in the treatment of Hailey-Hailey disease.”
Irrespective to the questions above, I wish the utmost success to Borghi and colleagues in their future endeavors towards helping the patients suffering from HHD.
Richard Kellermayer, M.D., Ph.D.
This comment, imported by Hypothesis from PubMed Commons, is licensed under CC BY.
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- Feb 2018
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europepmc.org europepmc.org
-
On 2015 Nov 03, Richard Kellermayer commented:
I greatly appreciate the responses by Alessandro Borghi and colleagues to our comments in http://www-ncbi-nlm-nih-gov.ezproxyhost.library.tmc.edu/pubmed/26517976. Unfortunately, I still don’t find the answers to our questions within their responses:
Why didn’t they identify the ATP2C1 mutation in the patient of their original report, http://www-ncbi-nlm-nih-gov.ezproxyhost.library.tmc.edu/pubmed/25430969? The genetic analysis would have aided the clinical diagnosis, and may have provided pharmacogenetic insights.
Why they propose that HeLa cells are a relevant model for Hailey-Hailey disease (HHD) that exclusively affects the epidermis?
Why they failed to reference our pioneering work (http://www-ncbi-nlm-nih-gov.ezproxyhost.library.tmc.edu/pubmed/16143464) on examining the role of magnesium in a yeast model of HHD, which has been shown to be relevant for testing therapeutic agents against the disease? Our publication was the only pertinent reference in PubMed in respect to magnesium and HHD prior to 2015.
On the contrary to Alessandro Borghi and colleagues, a layperson who has family members suffering from the disease kindly called my attention to the findings of Borghi, et al. in October of 2015, by stating the following: “Just wanted you to know that your pioneering research on PMR1 has inadvertently led to a clinical breakthrough in the treatment of Hailey-Hailey disease.”
Irrespective to the questions above, I wish the utmost success to Borghi and colleagues in their future endeavors towards helping the patients suffering from HHD.
Richard Kellermayer, M.D., Ph.D.
This comment, imported by Hypothesis from PubMed Commons, is licensed under CC BY.
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