The results suggest a positive association between the genetic variants of the NLGN4 and NSMR in the Chinese children from Qinba Mountains Region.

To investigate the possible genetic association of nonsyndromic X-linked mental retardation (NS-XLMR) with FTSJ1 gene polymorphisms, a case-control association study was performed focusing on the Chinese Han population in the Qinba mountain region. Three common single nucleotide polymorphisms (SNPs) (rs2268954, rs2070991, rs5905692) in the gene were selected and genotyped using the polymerase chain reaction single-strand confirmation polymorphism (PCR-SSCP) method. Pairwise linkage disequilibrium (LD) analysis showed that the three SNPs were in strong LD (all D' > 0.8). There were significant differences between cases and controls in allele frequency distribution of rs2268954 (P = 0.036), rs2070991 (P = 0.043), and rs5905692 (P = 0.014) and in the distributions of common haplotypes combined by these SNPs (global P = 0.01236) in male subjects. In female subjects, however, no positive results were found. Our results suggest a positive association between the genetic variants of the FTSJ1 gene and NS-XLMR in young male subjects in the Chinese Han population in the Qinba region.

The basic aim of this analysis was to evaluate the 100 most cited publications in aging research.Methods: On January 17, 2021 Web of Science Core Collection database was searched for aging research publications. The studied parameter includes; publication year, authorship, publication type, keywords, journal name, institution, country, and visualization mapping. HistCite TM application for citation analysis and VOSviewer software was used for visualization mapping. Results:The top 100 most cited papers were published in 52 journals, authored by 537 authors. The most cited paper was "The diagnosis of dementia due to Alzheimer's disease: Recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease," which received 6039 citations (2013 average citations per year). Nature was the most attractive journal (n=13). Aging was the most dominant used keyword. The maximum number of papers were published in 2005 (n=8). Harvard University was the leading institute (n=13), while the United States of America (USA) was the most productive country (n=76). Conclusion:The highly cited papers were published in developed countries, and no study was published in lowincome countries.

No abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.