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Given that the environment faces many issues, organizations unified quality management and sustainable operations to enhance the sustainable development of any industry. However, they disregard the fundamental role of knowledge management (KM) and green innovation (GI). Therefore, this research study proposed and analyzed the relationship between total quality management (TQM) and the sustainable development of the sports goods industry (SDSGI) through knowledge management (KM) and green innovation (GI) in an encompassing model. Data were collected from 399 respondents from the companies producing Iranian sports goods and analyzed through structural equation modeling (SEM). The path analysis results showed that TQM has a positive and significant effect on KM, GI, and SDSGI. Besides, KM and GI also have a significant positive impact on SDSGI. Further, GI and KM were found to have a partial mediation among TQM and SDSGI. The findings signify the critical role of TQM practices in accomplishing SDSGI. Moreover, KM and GI adoption also play a fundamental role in realizing SDSGI. This research study recommends valued insights to policymakers for protecting the environment and enhancing sustainable development by employing quality management and green initiatives in the current knowledge-based economy. [ABSTRACT FROM AUTHOR]

Implementing sustainable sourcing practices (SSP) relies strongly on organizational decisions and the motives behind these decisions. However, little is known about how SSP are influenced by organizational motives (OM). To address this gap, we developed a multifaceted framework based on stakeholder theory (ST) that enables enhanced knowledge of OM, such as instrumental motives (IM), relational motives (RM), moral motives (MM), and their influence on SSP by incorporating the moderating role of stakeholder pressure (STP). Data were compiled from 308 Pakistani manufacturing organizational respondents and assayed by partial least squares structural equation modeling (PLS-SEM). The deliverables of SEM validated that all OM directly impact SSP. Further, STP expressively moderated the targeted relations in confounding ways and organizational size moderately distinguished small and larger organizations. Importance-performance map analysis also revealed that RM have a greater importance value (0.201) and MM have a greater performance value (71.833) than all exogenous variables. This research offers several key contributions. First, all three OM (IM, RM, and MM) significantly improve SSP directly, and with the moderation of STP and organizational size, which signifies the salience of ST and provide diverse conclusions. Second, OM operationalize SSP and suggest ways to execute them to meet the organizational environmental goals. Third, this study examines how SSP implementation requires the source function to reconsider its key motives for sustainability endeavors. [ABSTRACT FROM AUTHOR]

Accurate vehicle detection plays a vital role in intelligent transportation systems. Various day conditions, for instance, dawn, morning, noon, or non-uniform illuminations put restrictions on camera's visibility. Such scenarios impact the performance of detection and recognition algorithms that are used in surveillance systems and autonomous driving. This paper aims to solve the aforementioned issues using machine learning methods, such as face detection and recognition. The core theme of this paper is the development of a vehicle detection and driver recognition system, which also focuses the situation where an input image is degraded by non-uniform illuminations. The proposed system is composed of four main processing modules: (i) image acquisition, (ii) image enhancement, (iii) object detection that locates vehicles' and drivers' faces, and (iv) the Pool of Face Recognition Algorithms (PoFRA), which uses four face recognition algorithms to conclude the driver's identity. We implement suitable algorithms for each of the above-described modules to appraise its practicability. The system can be adjusted to work in different types of extreme weather conditions, such as strong or dim light. Experimental results demonstrate that the proposed system has significant potential to take the research on automated car parking systems to the next level. [ABSTRACT FROM AUTHOR]

Organizational decisions and their motivations are crucial for successfully implementing sustainable sourcing practices (SSP). Still, there is scant research on how SSPs are impacted by corporate motives (CM). To fill this research gap, we formed a three-tiered stakeholder theory (ST) based paradigm that accounts for the moderating impact of regulatory pressure (RP) while examining the relationship between different types of corporate motives (instrumental, relational, and moral) and SSP. Partial least squares structural equation modeling (PLS-SEM) was used to examine data collected from 248 respondents in the Pakistani manufacturing industry. The outputs of SEM disclosed that all CMs affect SSP. RP also confoundedly moderated these targeted relationships. Importance performance map analysis (IPMA) showed that regulatory pressure (0.319) and relational motives (67.38) are more important and perform better than all other exogenous variables. This study sheds light on corporate strategies and decision-making in multi ways. All dimensions of CM greatly enhance SSP directly and through RP, as RP firmly moderates these associations, indicating the relevance of ST. Finally, this empirical investigation ends with a framework of testable assertions and many future research endeavors on environmental sustainability. [ABSTRACT FROM AUTHOR]

Over the years, public infrastructure projects have generated substantial attention as they take the initiative to enrich sustainable community development. This paper looks to identify if the delays in public projects significantly impact the sustainable community development. A questionnaire survey approach is used to collect data. This study employed the partial least square structural equation modeling to examine the hypothesized model. Data obtained from 325 project experts in the Pakistani construction industry provided empirical support for the study. The outcome of the statistical analysis showed that project delay significantly influences sustainable community development. Based on the findings, this study suggests valuable insights to project management planners and executors to improve strategic planning for project executions through proper sustainability approaches. [ABSTRACT FROM AUTHOR]

Sustainable development (SD) has recently emerged as a critical axis in industrial strategic management and debate. Apart from the scarcity of resources, the influence of economic difficulties on human life and society has increased the relevance of SD. However, estimating and analyzing the SD of any business are still in its infancy. Thus, the SD of the sports goods industry is assessed using a multilayer artificial perceptron neural network (MLP) technique employing eight distinct characteristics connected to production efficiency, international and internal environment, export, and domestic development by using Statistica software. To discover an ideal model for SD in the sports goods business, stepwise models with varied input parameters were built. The identity activation function was used to create and train an error propagation algorithm-based network. The results of various eight network models revealed that, among other models, the accuracy of our fifth model, which incorporates production efficiency, international and internal environment, strategic management, and domestic distribution organization, gives the best answer. This model has the lowest root-mean-square error (RMSE) = 0.002 and the greatest R square = 0.922, demonstrating its efficacy and effectiveness in terms of SD. Based on these findings, it is possible to conclude that using artificial neural networks is beneficial in determining an optimal solution for SD and other similar problems since this tool is important and would be utilized for forecasting and decision-making in any business. [ABSTRACT FROM AUTHOR]

This study elaborates the concept of green effectuation orientations (GEOs) to enhance the environmental performance of entrepreneurial SMEs based in the Jiangsu province of China. For this purpose, we collected the data from 328 employees of entrepreneurial SMEs via a survey and analyzed it through SEM. We evaluated the GEO concept on mindset and action-based views to operationalize the construct with all subdimensions fully. Our study illustrates some unexplored domains of entrepreneurship research and comes up with the findings that (GEOs) are positively correlated with environmental performance (EP), green innovation performance (GIP), and environmental management initiatives (EMI). Additionally, the findings of this research also unveil that EMI and GIP pave the way for EP, as both mediate the relationship between GEO and EP. Last but not the least, this research study also explained the effective mechanism through which CSR commitment as a moderator can affect the relationship between GEO and EP. The findings of this study expand the spheres of effectuation theory and come up with several exciting theoretical and managerial implications. Besides, it is the first of its kind to demonstrate that GEO could enhance GIP, EMI, and EP. [ABSTRACT FROM AUTHOR]

To delineate the genetic bases of primary congenital glaucoma (PCG), we ascertained a large cohort consisting of 48 consanguineous families. Of these, we previously reported 26 families with mutations in CYP1B1 and six families with LTBP2, whereas the genetic bases responsible for PCG in 16 families remained elusive. We employed next-generation whole exome sequencing to delineate the genetic basis of PCG in four of these 16 familial cases. Exclusion of linkage to reported PCG loci was established followed by next-generation whole exome sequencing, which was performed on 10 affected individuals manifesting cardinal systems of PCG belonging to four unresolved families along with four control samples consisting of genomic DNAs of individuals harboring mutations in CYP1B1 and LTBP2. The analyses of sequencing datasets failed to identify potential causal alleles in the 10 exomes whereas c.1169G > A (p. Arg390His) in CYP1B1 and c.3427delC (p.Gln1143Argfs*35) in LTBP2 were identified in the control samples. Taken together, next-generation whole exome sequencing failed to delineate the genetic basis of PCG in familial cases excluded from mutations in CYP1B1 and LTBP2. These data strengthen the notion that compound heterozygous coding variants or non-coding variants might contribute to PCG. [ABSTRACT FROM AUTHOR]

Environmental administrative penalty is a strong tool for the government to regulate environmental pollution. The influence of an environmental administrative penalty on a firm's cash flow has become a hot topic in academics and industry. By employing ordinary least square and the bootstrap method, it is established that the penalty significantly reduces the firm's cash flow in the succeeding year through incremental disclosures which play a mediating role. Further, we distinguished environmental information's nature and then measured it from negative, sensitive (hard) information and positive (soft) information aspects. However, it is found that the mediating effect of the two types of disclosure increment did not exist, respectively. These results help us to comprehend the significance of environmental management to the stability of corporate cash flow and have practical illumination to corporate environmental management and environmental pollution control. [ABSTRACT FROM AUTHOR]

Peroxisomes, single-membrane intracellular organelles, play an important role in various metabolic pathways. The translocation of proteins from the cytosol to peroxisomes depends on peroxisome import receptor proteins and defects in peroxisome transport result in a wide spectrum of peroxisomal disorders. Here, we report a large consanguineous family with autosomal recessive congenital cataracts and developmental defects. Genome-wide linkage analysis localized the critical interval to chromosome 12p with a maximum two-point LOD score of 4.2 (θ = 0). Next-generation exome sequencing identified a novel homozygous missense variant (c.653 T > C; p.F218S) in peroxisomal biogenesis factor 5 (PEX5), a peroxisome import receptor protein. This missense mutation was confirmed by bidirectional Sanger sequencing. It segregated with the disease phenotype in the family and was absent in ethnically matched control chromosomes. The lens-specific knockout mice of Pex5 recapitulated the cataractous phenotype. In vitro import assays revealed a normal capacity of the mutant PEX5 to enter the peroxisomal Docking/Translocation Module (DTM) in the presence of peroxisome targeting signal 1 (PTS1) cargo protein, be monoubiquitinated and exported back into the cytosol. Importantly, the mutant PEX5 protein was unable to form a stable trimeric complex with peroxisomal biogenesis factor 7 (PEX7) and a peroxisome targeting signal 2 (PTS2) cargo protein and, therefore, failed to promote the import of PTS2 cargo proteins into peroxisomes. In conclusion, we report a novel missense mutation in PEX5 responsible for the defective import of PTS2 cargo proteins into peroxisomes resulting in congenital cataracts and developmental defects. [ABSTRACT FROM AUTHOR]

COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly hearing loss in mice and humans. Two forms of hearing loss are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hearing loss, with or without vestibular dysfunction (DFNA9) via a gain-of-function/dominant-negative mechanism, and more recently autosomal recessive nonsyndromic hearing loss (DFNB110) via nonsense variants. Using a combination of targeted gene panels, exome sequencing, and functional studies, we identified four novel pathogenic variants (two nonsense variants, one missense, and one inframe deletion) in COCH as the cause of autosomal recessive hearing loss in a multi-ethnic cohort. To investigate whether the non-truncating variants exert their effect via a loss-of-function mechanism, we used minigene splicing assays. Our data showed both the missense and inframe deletion variants altered RNA splicing by creating an exon splicing silencer and abolishing an exon splicing enhancer, respectively. Both variants create frameshifts and are predicted to result in a null allele. This study confirms the involvement of loss-of-function mutations in COCH in autosomal recessive nonsyndromic hearing loss, expands the mutational landscape of DFNB110 to include coding variants that alter RNA splicing, and highlights the need to investigate the effect of coding variants on RNA splicing. [ABSTRACT FROM AUTHOR]

CIB2 and GJB2 genes variants contribute significantly in familial cases of prelingual recessive hearing loss (HL). This study was aimed to determine the CIB2 and GJB2 variants and associated phenotype in 150 non-familial individuals with HL. After getting informed consent, 150 non-familial deaf patients were enrolled and blood samples were obtained for DNA extraction. Pure tone air conduction audiometry was performed. Coding exons of CIB2 and GJB2 genes were Sanger sequenced. A tetra primer ARMS assay was developed for recurrent CIB2 variant. Four bi-allelic GJB2 variants, c.71G>A p.(Trp24*), c.231G>A p.(Trp77*), c.235delC p.(Leu79Cysfs3*) and c.35delG p.(Gly11Leufs24*), were found in nine hearing impaired individuals. We also found four homozygotes and five carriers of c.380G>A p. (Arg127His) variant of controversial clinical significance. CIB2 sequencing revealed single recurrent variant c.272T>C p. (Phe91Ser) segregating with HL in ten individuals. Among our patients, c.71G>A (p.Trp24*) was the most common variant, accounted for 45% of GJB2 variants. Two known GJB2 variants, c.235delC p. (Leu79Cysfs3*) and c.310del14 p. (Lys105Argfs2*), are reported here for the first time in Pakistani population. Our data further support the benign nature of c.380G>A p. (Arg127His) variant. For CIB2, c.272T>C p. (Phe91Ser) is the second common cause of HL among our sporadic cases. Phenotypically, in our patients, individuals homozygous for GJB2 variants had profound HL, whereas CIB2 homozygotes had severe to profound prelingual HL. Our results suggest that GJB2 and CIB2 are common cause of HL in different Pakistani ethnicities. [ABSTRACT FROM AUTHOR]

Next-generation sequencing (NGS) of exomes and genomes has accelerated the identification of genes involved in Mendelian phenotypes. However, many NGS studies fall short of identifying causal variants, with estimates for success rates as low as 25% for uncovering the pathological variant underlying disease etiology. An important reason for such failures is familial locus heterogeneity, where within a single pedigree causal variants in two or more genes underlie Mendelian trait etiology. As examples of intra- and inter-sibship familial locus heterogeneity, we present 10 consanguineous Pakistani families segregating hearing impairment due to homozygous variants in two different hearing impairment genes and a European-American pedigree in which hearing impairment is caused by four variants in three different genes. We have identified 41 additional pedigrees with syndromic and nonsyndromic hearing impairment for which a single previously reported hearing impairment gene has been identified but only segregates with the phenotype in a subset of affected pedigree members. We estimate that locus heterogeneity occurs in 15.3% (95% confidence interval: 11.9%, 19.9%) of the families in our collection. We demonstrate novel approaches to apply linkage analysis and homozygosity mapping (for autosomal recessive consanguineous pedigrees), which can be used to detect locus heterogeneity using either NGS or SNP array data. Results from linkage analysis and homozygosity mapping can also be used to group sibships or individuals most likely to be segregating the same causal variants and thereby increase the success rate of gene identification. [ABSTRACT FROM AUTHOR]

We assessed a large consanguineous Pakistani family (PKAB157) segregating early onset low vision problems. Funduscopic and electroretinographic evaluation of affected individuals revealed juvenile cone-rod dystrophy (CRD) with maculopathy. Other clinical symptoms included loss of color discrimination, photophobia and nystagmus. Whole-exome sequencing, segregation and haplotype analyses demonstrated that a transition variant (c.955T>C; p.(Cys319Arg)) in CNGA3 co-segregated with the CRD phenotype in family PKAB157. The ability of CNGA3 channel to influx calcium in response to agonist, when expressed either alone or together with the wild-type CNGB3 subunit in HEK293 cells, was completely abolished due to p.Cys319Arg variant. Western blotting and immunolocalization studies suggest that a decreased channel density in the HEK293 cell membrane due to impaired folding and/or trafficking of the CNGA3 protein is the main pathogenic effect of the p.Cys319Arg variant. Mutant alleles of the human cone photoreceptor cyclic nucleotide-gated channel (CNGA3) are frequently associated with achromatopsia. In rare cases, variants in CNGA3 are also associated with cone dystrophy, Leber's congenital amaurosis and oligo cone trichromacy. The identification of predicted p.(Cys319Arg) missense variant in CNGA3 expands the repertoire of the known genetic causes of CRD and phenotypic spectrum of CNGA3 alleles. [ABSTRACT FROM AUTHOR]

Pathogenic mutations of MARVELD2, encoding tricellulin, a tricelluar tight junction protein, cause autosomal recessive non-syndromic hearing loss (DFNB49) in families of Pakistan and Czech Roma origin. In fact, they are a significant cause of prelingual hearing loss in the Czech Roma, second only to GJB2 variants. Previously, we reported that mice homozygous for p.Arg497* variant of Marveld2 had a broad phenotypic spectrum, where defects were observed in the inner ear, heart, mandibular salivary gland, thyroid gland and olfactory epithelium. The current study describes the types and frequencies of MARVELD2 alleles and clinically reexamines members of DFNB49 families. We found that MARVELD2 variants are responsible for about 1.5 % (95 % CI 0.8-2.6) of non-syndromic hearing loss in our cohort of 800 Pakistani families. The c.1331+2T>C allele is recurrent. In addition, we identified a novel large deletion in a single family, which appears to have resulted from non-allelic homologous recombination between two similar Alu short interspersed elements. Finally, we observed no other clinical manifestations co-segregating with hearing loss in DFNB49 human families, and hypothesize that the additional abnormalities in the Marveld2 mutant mouse indicates a critical non-redundant function for tricellulin in other organ systems. [ABSTRACT FROM AUTHOR]

Congenital disorders of glycosylation (CDG) are a large group of recessive multisystem disorders caused by impaired protein or lipid glycosylation. The CDG-I subgroup is characterized by protein N-glycosylation defects originating in the endoplasmic reticulum. The genetic defect is known for 17 different CDG-I subtypes. Patients in the few reported DPAGT1-CDG families exhibit severe intellectual disability (ID), epilepsy, microcephaly, severe hypotonia, facial dysmorphism and structural brain anomalies. In this study, we report a non-consanguineous family with two affected adults presenting with a relatively mild phenotype consisting of moderate ID, epilepsy, hypotonia, aggressive behavior and balance problems. Exome sequencing revealed a compound heterozygous missense mutation, c.85A>T (p.I29F) and c.503T>C (p.L168P), in the DPAGT1 gene. The affected amino acids are located in the first and fifth transmembrane domains of the protein. Isoelectric focusing and high-resolution mass spectrometry analyses of serum transferrin revealed glycosylation profiles that are consistent with a CDG-I defect. Our results show that the clinical spectrum of DPAGT1-CDG is much broader than appreciated so far. [ABSTRACT FROM AUTHOR]

A missense mutation of Gipc3 was previously reported to cause age-related hearing loss in mice. Point mutations of human GIPC3 were found in two small families, but association with hearing loss was not statistically significant. Here, we describe one frameshift and six missense mutations in GIPC3 cosegregating with DFNB72 hearing loss in six large families that support statistically significant evidence for genetic linkage. However, GIPC3 is not the only nonsyndromic hearing impairment gene in this region; no GIPC3 mutations were found in a family cosegregating hearing loss with markers of chromosome 19p. Haplotype analysis excluded GIPC3 from the obligate linkage interval in this family and defined a novel locus spanning 4.08 Mb and 104 genes. This closely linked but distinct nonsyndromic hearing loss locus was designated DFNB81. [ABSTRACT FROM AUTHOR]

There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132 and PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively. Family PKDF740 is segregating congenital blindness, mild-to-profound progressive hearing loss that is characteristic of Norrie disease (MIM#310600). Sequence analysis of NDP among affected members of this family revealed a novel single nucleotide deletion c.49delG causing a frameshift and premature truncation (p.V17fsX1) of the encoded protein. These mutations were not found in 150 normal DNA samples. Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling and molecular epidemiology of hearing loss among Pakistanis. [ABSTRACT FROM AUTHOR]

Genetic analysis of an inbred Pakistani family PKDF280, segregating prelingual severe to profound sensorineural hearing loss, provided evidence for a DFNB locus on human chromosome 9q34.3. Co-segregation of the deafness trait with marker D9SH159 was determined by a two-point linkage analysis (LOD score 9.43 at θ=0). Two additional large families, PKDF517 and PKDF741, co-segregate recessive deafness with markers linked to the same interval. Haplotype analyses of these three families refined the interval to 3.84 Mb defined by D9S1818 (centromeric) and D9SH6 (telomeric). This interval overlaps with the previously reported DFNB33 locus whose chromosomal map position has been recently revised and assigned to a new position on chromosome 10p11.23–q21.1. The nonsyndromic deafness locus on chromosome 9q segregating in family PKDF280 was designated DFNB79. We are currently screening the 113 candidate DFNB79 genes for mutations and have excluded CACNA1B, EDF1, PTGDS, EHMT1, QSOX2, NOTCH1, MIR126 and MIR602. [ABSTRACT FROM AUTHOR]

Nonsyndromic oculocutaneous Albinism (nsOCA) is clinically characterized by the loss of pigmentation in the skin, hair, and iris. OCA is amongst the most common causes of vision impairment in children. To date, pathogenic variants in six genes have been identified in individuals with nsOCA. Here, we determined the identities, frequencies, and clinical consequences of OCA alleles in 94 previously unreported Pakistani families. Combination of Sanger and Exome sequencing revealed 38 alleles, including 22 novel variants, segregating with nsOCA phenotype in 80 families. Variants of TYR and OCA2 genes were the most common cause of nsOCA, occurring in 43 and 30 families, respectively. Twenty-two novel variants include nine missense, four splice site, two non-sense, one insertion and six gross deletions. In vitro studies revealed retention of OCA proteins harboring novel missense alleles in the endoplasmic reticulum (ER) of transfected cells. Exon-trapping assays with constructs containing splice site alleles revealed errors in splicing. As eight alleles account for approximately 56% (95% CI: 46.52-65.24%) of nsOCA cases, primarily enrolled from Punjab province of Pakistan, hierarchical strategies for variant detection would be feasible and cost-efficient genetic tests for OCA in families with similar origin. Thus, we developed Tetra-primer ARMS assays for rapid, reliable, reproducible and economical screening of most of these common alleles. [ABSTRACT FROM AUTHOR]