Muhammad Naeem - Academia.edu (original) (raw)

Papers by Muhammad Naeem

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Noninfectious Granulomatous Diseases of the Chest Granulomas are pathologically defined as focal ... more Noninfectious Granulomatous Diseases of the Chest Granulomas are pathologically defined as focal aggregations of activated macrophages, Langerhans cells, and lymphocytes. Granulomas form in the lungs when the immune system barricades the substances it perceives as foreign but is unable to remove. Granulomas manifest with numerous imaging appearances in thoracic radiology, and their presence is a nonspecific finding. Granulomatous lung diseases comprise multiple entities with variable clinical manifestations and outcomes. Their imaging findings are rarely specific and can mimic malignancies, often triggering an extensive diagnostic workup. Radiologists must be familiar with the clinical manifestations and imaging findings of these entities to generate appropriate differential diagnoses. This review describes the imaging manifestations of various noninfectious, necrotizing, and nonnecrotizing granulomatous diseases that primarily affect the thorax. ©

PLoS genetics, Aug 29, 2018

We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumpt... more We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa (arRP) in eight consanguineous families of Pakistani descent. The p.D25E alteration decreased CLCC1 channel function accompanied by accumulation of mutant protein in granules within the ER lumen, while siRNA knockdown of CLCC1 mRNA induced apoptosis in cultured ARPE-19 cells. TALEN KO in zebrafish was lethal 11 days post fertilization. The depressed electroretinogram (ERG) cone response and cone spectral sensitivity of 5 dpf KO zebrafish and reduced eye size, retinal thickness, and expression of rod and cone opsins could be rescued by injection of wild type CLCC1 mRNA. Clcc1+/- KO mice showed decreased ERGs and photoreceptor number. Together these results strongly suggest that intracellular chloride transport by CLCC1 is a critical process in maintaining retinal int...

Molecular vision, 2016

To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa (arRP) ... more To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous familial cases. Seven large familial cases with multiple individuals diagnosed with retinitis pigmentosa were included in the study. Affected individuals in these families underwent ophthalmic examinations to document the symptoms and confirm the initial diagnosis. Blood samples were collected from all participating members, and genomic DNA was extracted. An exclusion analysis with microsatellite markers spanning the TULP1 locus on chromosome 6p was performed, and two-point logarithm of odds (LOD) scores were calculated. All coding exons along with the exon-intron boundaries of TULP1 were sequenced bidirectionally. We constructed a single nucleotide polymorphism (SNP) haplotype for the four familial cases harboring the K489R allele and estimated the likelihood of a founder effect. The ophthalmic examinations of the affected individuals in these familial cases were sugge...

Cyclooxygenases, which exists in two forms COX-1 and COX-2, are essential enzymes in the synthesi... more Cyclooxygenases, which exists in two forms COX-1 and COX-2, are essential enzymes in the synthesis of Prostaglandin H, involves in the biosynthesis of Thromboxanes, and Prostacyclins. The inhibition of biological activity of these enzymes has very therapeutic importance in many pathological conditions. Many non-steroidal anti-inflammatory drugs (NSAIDs) have been used against these enzymes but mostly lead to side effects. Recently reported several synthetic compounds (5-substituted 1H-terazoles) which are experimentally shown to inhibit cyclooxygenases activity in the low micromolar range. We performed a computational study to help identify possible binding modes by docking these compounds onto the active site of cyclooxygenase-2 (COX-2) and to characterize the structures of binding complexes via MOE-Dock as docking software. Good correlations were found in docking scores and experimental values of these compounds against COX-2. The top-ranked conformation of each compound was inter...

Molecular biology …, 2009

A molecular study was conducted to investigate the prevalence of Hepatitis C virus genotypes in H... more A molecular study was conducted to investigate the prevalence of Hepatitis C virus genotypes in HCV infected population of Balochistan. Forty HCV seroposi-tive samples belonging to seven different locations of Balochistan were collected from different health care centres. ...

RadioGraphics

Noninfectious Granulomatous Diseases of the Chest Granulomas are pathologically defined as focal ... more Noninfectious Granulomatous Diseases of the Chest Granulomas are pathologically defined as focal aggregations of activated macrophages, Langerhans cells, and lymphocytes. Granulomas form in the lungs when the immune system barricades the substances it perceives as foreign but is unable to remove. Granulomas manifest with numerous imaging appearances in thoracic radiology, and their presence is a nonspecific finding. Granulomatous lung diseases comprise multiple entities with variable clinical manifestations and outcomes. Their imaging findings are rarely specific and can mimic malignancies, often triggering an extensive diagnostic workup. Radiologists must be familiar with the clinical manifestations and imaging findings of these entities to generate appropriate differential diagnoses. This review describes the imaging manifestations of various noninfectious, necrotizing, and nonnecrotizing granulomatous diseases that primarily affect the thorax. ©

PLoS genetics, Aug 29, 2018

We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumpt... more We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa (arRP) in eight consanguineous families of Pakistani descent. The p.D25E alteration decreased CLCC1 channel function accompanied by accumulation of mutant protein in granules within the ER lumen, while siRNA knockdown of CLCC1 mRNA induced apoptosis in cultured ARPE-19 cells. TALEN KO in zebrafish was lethal 11 days post fertilization. The depressed electroretinogram (ERG) cone response and cone spectral sensitivity of 5 dpf KO zebrafish and reduced eye size, retinal thickness, and expression of rod and cone opsins could be rescued by injection of wild type CLCC1 mRNA. Clcc1+/- KO mice showed decreased ERGs and photoreceptor number. Together these results strongly suggest that intracellular chloride transport by CLCC1 is a critical process in maintaining retinal int...

Molecular vision, 2016

To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa (arRP) ... more To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous familial cases. Seven large familial cases with multiple individuals diagnosed with retinitis pigmentosa were included in the study. Affected individuals in these families underwent ophthalmic examinations to document the symptoms and confirm the initial diagnosis. Blood samples were collected from all participating members, and genomic DNA was extracted. An exclusion analysis with microsatellite markers spanning the TULP1 locus on chromosome 6p was performed, and two-point logarithm of odds (LOD) scores were calculated. All coding exons along with the exon-intron boundaries of TULP1 were sequenced bidirectionally. We constructed a single nucleotide polymorphism (SNP) haplotype for the four familial cases harboring the K489R allele and estimated the likelihood of a founder effect. The ophthalmic examinations of the affected individuals in these familial cases were sugge...

Cyclooxygenases, which exists in two forms COX-1 and COX-2, are essential enzymes in the synthesi... more Cyclooxygenases, which exists in two forms COX-1 and COX-2, are essential enzymes in the synthesis of Prostaglandin H, involves in the biosynthesis of Thromboxanes, and Prostacyclins. The inhibition of biological activity of these enzymes has very therapeutic importance in many pathological conditions. Many non-steroidal anti-inflammatory drugs (NSAIDs) have been used against these enzymes but mostly lead to side effects. Recently reported several synthetic compounds (5-substituted 1H-terazoles) which are experimentally shown to inhibit cyclooxygenases activity in the low micromolar range. We performed a computational study to help identify possible binding modes by docking these compounds onto the active site of cyclooxygenase-2 (COX-2) and to characterize the structures of binding complexes via MOE-Dock as docking software. Good correlations were found in docking scores and experimental values of these compounds against COX-2. The top-ranked conformation of each compound was inter...

Molecular biology …, 2009

A molecular study was conducted to investigate the prevalence of Hepatitis C virus genotypes in H... more A molecular study was conducted to investigate the prevalence of Hepatitis C virus genotypes in HCV infected population of Balochistan. Forty HCV seroposi-tive samples belonging to seven different locations of Balochistan were collected from different health care centres. ...