Next Article in Journal
Escalation vs. Early Intense Therapy in Multiple Sclerosis
Previous Article in Journal
Adipose-Derived Stem Cells for Facial Rejuvenation
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
JPM
Volume 12
Issue 1
10.3390/jpm12010118
Review Report
jpm-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles
Article
Peer-Review Record

Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus

J. Pers. Med. 2022, 12(1), 118; https://doi.org/10.3390/jpm12010118
by Senthil Selvaraj 1, Dírcea Rodrigues 2, Navaneethakrishnan Krishnamoorthy 1, Khalid A. Fakhro 1,3,4, Luís R. Saraiva 1,4,5,* and Manuel C. Lemos 6,*
Reviewer 1: Anonymous
Reviewer 2: Anonymous
Reviewer 3: Anonymous
J. Pers. Med. 2022, 12(1), 118; https://doi.org/10.3390/jpm12010118
Submission received: 8 December 2021 / Revised: 27 December 2021 / Accepted: 5 January 2022 / Published: 17 January 2022

Round 1

Reviewer 1 Report

No changes needed from my end

Author Response

Please see the attachment.

Author Response File: Author Response.docx

Reviewer 2 Report

Comments:

In this study, the author has studied the genetic mutation of AVPR2 gene and its functional consequences in a heterozygous female patient. Author has studied the clinical data of the NDI patient and investigated the effect of mutation on HEK293 cell culture.

Moreover, molecular modelling, transfection studies was also done. Finally, author has investigated the effect of AVPR2 mutant on AVP-dependent downstream signaling pathways.

 

Major comments:

  • I found the manuscript very confusing with full of data. However, it can neither be considered as a case report nor a scientific article in its present form.
  • One heterozygous female patient data is not sufficient to claim anything.
  • HEK293 cell human embryonic kidney cell culture data could not support the hypothesis because it could not be replaced by human iPSC cells.
  • In-vitro molecular modelling was only based on amino acid replacement of AVPR1, so data is not reliable.

Minor comments:

  • Figure 3 B and figure 3 C –Y-axis heading in densitometry data should be corrected.
  • Method: western blotting – precipitation step for biotinylated protein is missing.

 

Specific comments:

  • Re-writing of the manuscript.
  • NDI- should be excluded from the topic.

 

 

Author Response

Please see the attachment.

Author Response File: Author Response.docx

Reviewer 3 Report

General Comment: This is an interesting study of a woman with x-linked congenital NDI. The authors use a variety of methods to investigate the mechanism.

Major Comments: none

Minor Comment: Figure 1 appears after the first paragraph of the methods section.  It would be better if placed in the results section.

Author Response

Please see the attachment.

Author Response File: Author Response.docx

Round 2

Reviewer 2 Report

na

Back to TopTop