Publications by authors named "Farid Ullah"

Article Synopsis
  • Transmembrane protein 184B (TMEM184B) plays a crucial role in brain development and is linked to neurodevelopmental disorders when mutated.
  • Six pediatric patients with neurodevelopmental issues, such as intellectual disability and microcephaly, were found to have rare genetic variants in TMEM184B affecting protein stability and function.
  • Experimental studies in zebrafish and cell lines showed that these mutations lead to similar symptoms observed in patients, indicating that TMEM184B variants disrupt cellular processes and contribute to abnormal neural development.
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The current study explores the dynamics of business practices in Pakistan's Small and Medium Enterprises (SMEs). This research focusing on how "green supply chain management" (GSCM), Industry 4.0 technologies (IND), total quality management (TQM) and sustainable performance (SP) are interconnected.

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This study examines the integration of Pakistan's Stock Market with the stock markets of the top ten largest economies in the world-USA, China, Japan, Germany, the UK, India, France, Italy, Brazil, and Canada-from January 2015 to October 2020. To examine long- and short run integration, this study employed Johansen and Juselius co-integration and pair-wise Granger causality tests. In the long run, the results indicated that Pakistan's Stock Market is not integrated with these markets.

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Article Synopsis
  • The study focuses on a protein called SPOUT1/CENP-32, which is crucial for proper chromosome alignment during cell division.
  • When this protein is depleted, it causes problems like centrosome detachment and chromosome misalignment, leading to significant developmental issues.
  • The research also links genetic variants in humans to neurodevelopmental delays and identifies a disorder called SpADMiSS, characterized by symptoms like developmental delays, microcephaly, seizures, and short stature due to defects in cell division.
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We report 21 families displaying neurodevelopmental differences and multiple congenital anomalies while bearing a series of rare variants in (). MAP4K4 has been implicated in many signaling pathways including c-Jun N-terminal and RAS kinases and is currently under investigation as a druggable target for multiple disorders. Using several zebrafish models, we demonstrate that these human variants are either loss-of-function or dominant-negative alleles and show that decreasing Map4k4 activity causes developmental defects.

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Article Synopsis
  • Embryonic development relies on precise DNA processes, and mutations in repair genes can cause neurodevelopmental disorders with symptoms like microcephaly and short stature.
  • Researchers identified genetic variants in SLF2 and SMC5 from the RAD18-SLF1/2-SMC5/6 pathway in patients with developmental issues, including abnormal chromosomes and anemia.
  • The new disorder, named Atelís Syndrome, demonstrates heightened replication stress and difficulties with specific DNA structures, emphasizing the crucial role of the SLF2-SMC5/6 pathway in preserving genome stability.
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Rare copy-number variants (rCNVs) include deletions and duplications that occur infrequently in the global human population and can confer substantial risk for disease. In this study, we aimed to quantify the properties of haploinsufficiency (i.e.

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Marble units generate an enormous amount of non-biodegradable waste during the processing operations and are considered one of the environmentally unfriendly industrial sectors. This sector has become a global nuisance due to its multi-dimensional damaging nature. Therefore, a multidimensional approach is needed to geographically describe the pollution sources, their waste load, collection mechanism, and their proper disposal or reuse.

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Site suitability with regards to environmental protection, public concerns, and the legitimate prerequisite is a basic issue that has been tended to in this study. By and large, marble waste is being unloaded on accessible open spaces or released in water to the close by waterways in the territory, Mohmand marble zone (Shabqadar), Khyber Pakhtunkhwa, Pakistan. Suitability assessment for marble waste collection and disposal was carried out through the integrated approach of analytical hierarchy process (AHP) and geographic information system (GIS) to limit the ecological dangers, public, and government concerns related to marble waste.

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The objective of the present study was to evaluate the role of serum progesterone (P4) in follicular dynamics, oocytes' recovery and quality and their in vitro developmental competence during consecutive ovum pick-up (OPU) sessions in Bos indicus dairy cows. Wave-synchronized Sahiwal cattle (n = 20) were randomly divided into treatment (n = 10) and control (n = 10) groups. CIDR was used as a source of external progesterone in the treatment group.

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Mitochondrial disorders are collectively common, genetically heterogeneous disorders in both pediatric and adult populations. They are caused by molecular defects in oxidative phosphorylation, failure of essential bioenergetic supply to mitochondria, and apoptosis. Here, we present three affected individuals from a consanguineous family of Pakistani origin with variable seizures and intellectual disability.

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Different mutations in the Growth/Differentiation Factor 5 gene (GDF5) have been associated with varying types of skeletal dysplasia, including Grebe type chondrodysplasia (GTC), Hunter-Thompson syndrome, Du Pan Syndrome and Brachydactyly type C (BDC). Heterozygous pathogenic mutations exert milder effects, whereas homozygous mutations are known to manifest more severe phenotypes. In this study, we report a GDF5 frameshift mutation (c.

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Abnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP and POLG, have been linked to these rare diseases. The human genome encodes three DNA ligases, of which only one, ligase III (LIG3), has a mitochondrial splice variant and is crucial for mitochondrial health. We investigated the effect of reduced LIG3 activity and resulting mitochondrial dysfunction in seven patients from three independent families, who showed the common occurrence of gut dysmotility and neurological manifestations reminiscent of mitochondrial neurogastrointestinal encephalomyopathy.

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The current study evaluates the effects of early (8th week) and late (16th week of age) weaning of male goat kids on their body growth, testicular growth, sexual behavior, plasma testosterone concentration, and pubertal age. Early (n = 6) and late (n = 7) weaned Beetal bucks were weekly monitored from 18th to 38th week for their body weight, scrotal circumference, testicular volume, testicular echogenicity (via ultrasonography), sexual activities, and plasma testosterone concentration. In comparison to early-weaned, late-weaned bucks showed a marked increase (p < .

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The objectives of the present study were to evaluate the effects of photoperiodicity, gauge (G) of ovum pick-up (OPU) needle, and two methods of follicular wave emergence on follicular turn-over, oocyte recovery (OR), quality of the oocytes (OQ), and early in-vitro developmental competence of embryos in Nili-Ravi buffaloes (n = 20). In 1 experiment, buffaloes (n = 12; 4 buffaloes/season) were randomly assigned to optimize the OPU's (n) either with 17 G or 18 G needle in one of the following seasons: 1) peak breeding season (PBS; Sep-Nov; n = 31), 2) transition breeding season (TBS; Dec-Feb; n = 32), and 3) low breeding season (LBS; Apr-June; n = 32). During 2 experiment, buffaloes (n = 8) were enrolled randomly in a 2 × 2 cross-over design to compare the two methods of wave emergence either using follicular ablation (FA; n = 4), or synchronization protocol (CIDR-EB; n = 4) during PBS.

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Inherited optic neuropathies include complex phenotypes, mostly driven by mitochondrial dysfunction. We report an optic atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to transplantation, associated with mitochondrial DNA (mtDNA) depletion without accumulation of multiple deletions. By whole-exome sequencing, we identified mutations affecting the mitochondrial single-strand binding protein (SSBP1) in 4 families with dominant and 1 with recessive inheritance.

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Cargo transport along the cytoplasmic microtubular network is essential for neuronal function, and cytoplasmic dynein-1 is an established molecular motor that is critical for neurogenesis and homeostasis. We performed whole-exome sequencing, homozygosity mapping, and chromosomal microarray studies in five individuals from three independent pedigrees and identified likely-pathogenic variants in DYNC1I2 (Dynein Cytoplasmic 1 Intermediate Chain 2), encoding a component of the cytoplasmic dynein 1 complex. In a consanguineous Pakistani family with three affected individuals presenting with microcephaly, severe intellectual disability, simplification of cerebral gyration, corpus callosum hypoplasia, and dysmorphic facial features, we identified a homozygous splice donor site variant (GenBank: NM_001378.

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Neuronal ceroid lipofuscinosis (NCLs) are the most common neurodegenerative disorders, with global incidence of 1 in 100,000 live births. NCLs affect central nervous system, primarily cerebellar and cerebral cortices. Juvenile neuronal ceroid lipofuscinosis (JNCL), also known as Batten disease, is the most common form of NCLs.

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Background: Spinocerebellar ataxias comprise a large and heterogeneous group of disorders that may present with isolated ataxia, or ataxia in combination with other neurologic or non-neurologic symptoms. Monoallelic or biallelic GRID2 mutations were recently reported in rare cases with cerebellar syndrome and variable degree of ataxia, ocular symptoms, hypotonia and developmental delay.

Case Presentation: We report on a consanguineous family with autosomal recessive childhood onset of slowly progressive cerebellar ataxia and delayed psychomotor development in three siblings.

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Objective: Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual disability. Mutations in 17 genes have been shown to cause this phenotype. Recently, mutations in CIT, encoding CRIK (citron rho-interacting kinase)-a component of the central spindle matrix-were added.

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The potential of Arundo donax L. for phytoextraction of cadmium (Cd) from contaminated soil and water was probed. The plants were grown under greenhouse conditions in pots containing a nutrient solution or soil with increasing doses of Cd (0, 50, 100, 250, 500, 750, and 1000 μg L(-1)) for 21 days.

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