Autosomal recessive primary microcephaly (MCPH) is a rare and heterogeneous genetic disorder characterized by reduced head circumference, low cognitive prowess and, in general, architecturally normal brains. As many as 14 different loci have already been mapped. We recruited 35 MCPH families in Pakistan and could identify the genetic cause of the disease in 31 of them. Using homozygosity mapping complemented with whole-exome, gene panel or Sanger sequencing, we identified 12 novel mutations in 3 known MCPH-associated genes - 9 in ASPM, 2 in MCPH1 and 1 in CDK5RAP2. The 2 MCPH1 mutations were homozygous microdeletions of 164,250 and 577,594 bp, respectively, for which we were able to map the exact breakpoints. We also identified four known mutations - three in ASPM and one in WDR62. The latter was initially deemed to be a missense mutation but we demonstrate here that it affects splicing. As to ASPM, as many as 17 out of 27 MCPH5 families that we ascertained in our sample were found to carry the previously reported founder mutation p.Trp1326*. This study adds to the mutational spectra of four known MCPH-associated genes and updates our knowledge about the genetic heterogeneity of MCPH in the Pakistani population considering its ethnic diversity.
The study's objectives were to investigate the nexus of service quality and innovation in developing customer loyalty, with customer commitment and satisfaction as mediating. To address this issue, a quantitative investigation was carried out by a researcher in Pakistan. The primary study material was assembled through a survey questionnaire, with a sample population of approximately 369 individuals, which included Pakistani citizens who made online purchases. SEM (Hypotheses testing) showed a strong positive correlation between the variables service quality, service innovation, market orientation, customer commitment, customer satisfaction and customer loyalty. Limitations and future implications, as well as practical and theoretical implications, are discussed at the end of this paper.
Jawad syndrome is a multiple congenital anomaly and intellectual disability syndrome with mutation in RBBP8 reported only in two families. Here, we report on two new families from Pakistan and identified a previously reported variant in RBBP8, NM_002894.3:c.1808‐1809delTA. We could show that this mutation impairs splicing resulting in two different abnormal transcripts. Finally, we could verify a shared haplotype among all four families and estimate the founder event to have occurred some 24 generations ago.
The study's objectives were to inspect how media marketing influenced the development of customer satisfaction and trust through the mediating effect of consumer engagement. In Pakistan, a quantitative study was conducted to solve this problem. The core data for the research was gathered by a questionnaire from a sample group of around 310 persons, covering government employees, private sector workers, company executives, and students. The proposed framework under this study extracts the empirical stats using SPSS like demographics, reliability, descriptive statistics and correlation. Confirmatory Factor Analysis assessed the accuracy and effectiveness of the model and SEM-Structured Equation Model technique applied to the suggested model using SmartPLS 4. The findings revealed a significant positive association among factors of social media marketing, rewards, brand image, electronic word of mouth, customer engagement, customer trust and satisfaction. At the end of this study, limits and future implications are discussed, as well as practical and theoretical ramifications.
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