AIM:To detect and segregate causative mutations in congenital families with optic nerve hypoplasia(ONH).M E T H O D S:Two unrel a ted consanguineous Pakistani families with severe ONH,showing features of micropthalmia...AIM:To detect and segregate causative mutations in congenital families with optic nerve hypoplasia(ONH).M E T H O D S:Two unrel a ted consanguineous Pakistani families with severe ONH,showing features of micropthalmia,nystagmus,corneal opacity,and keratopathy were included.Genetic analysis was carried out by Target Panel Sequencing,and the nucleotide variant was confirmed by Sanger sequencing.In silico analyses were carried out to study the protein order-disorder functions and their effects on messenger ribonucleic acid(mRNA).RESULTS:Target panel sequencing revealed that the afflicted family members carried a novel frameshift mutation(NM_145178.4;c.91del G;p.Gly31Glyfs*55)that ensued in the conservation of an amino acid residue in the bHLH domain of ATOH7 protein.In silico studies predicted that the activity of the ATOH7 gene is probably affected by this mutation,which results in a shortened and nonfunctional protein.Three-dimensional structural analysis shows that DNA binding may be impacted by amino acid changes from non-polar to positively charged and vice versa(Arg42Pro and Pro18Arg),as well as from positively charged(Arg)to a small polar amino acid(Gly).CONCLUSION:A novel ATOH7 mutation is harmful.This study also emphasizes the potential effects of modified ATOH7 configurations on the stability and functionality of proteins.展开更多
Dear Sir,Iam Haiba Kaul,from the Department of Biochemistry,University of Health Sciences,Lahore,Pakistan.I write to present a study of oculocutaneous albinism（OCA）in consanguineous Pakistani families.OCA is a genet...Dear Sir,Iam Haiba Kaul,from the Department of Biochemistry,University of Health Sciences,Lahore,Pakistan.I write to present a study of oculocutaneous albinism（OCA）in consanguineous Pakistani families.OCA is a genetic defect of melanin biosynthesis that mainly affects eyes,skin and hair.展开更多
We report novel gold nanoparticles by green method for different fruit extracts have gaining greater attention due to its versatile properties in different applications. In this article, GNPs synthesis is demonstrated...We report novel gold nanoparticles by green method for different fruit extracts have gaining greater attention due to its versatile properties in different applications. In this article, GNPs synthesis is demonstrated successfully using fresh fruit extract of punica granatum and fragaria. The optical properties, morphology and elemental analysis of samples was done by using) different characterization techniques like SEM EDX and UV-Visible spectroscopy Biocompatibility of GNPs was determined by ALT, AST, ALP, Urea, Creatinine tests and also to investigate the effects of prepared GNPs on the kidney and liver functions. The GNPs prepared by fruit extract of punica granatum have more effects on the rabbits than GNPs prepared from fragaria but this effect normalizes after three days which shows its biocompatibility. To explore the photocatalytic activity of the GNPs the photocatalytic degradation of MB dye is also investigated. The results revealed that GNPs prepared through green synthesis route are found to be efficient enhancement in the degradation of MB dye in visible region due to large surface area. These particles were more active in catalytic reduction due to their high surface energy and in bio-medical applications as biocompatibility.展开更多
文摘AIM:To detect and segregate causative mutations in congenital families with optic nerve hypoplasia(ONH).M E T H O D S:Two unrel a ted consanguineous Pakistani families with severe ONH,showing features of micropthalmia,nystagmus,corneal opacity,and keratopathy were included.Genetic analysis was carried out by Target Panel Sequencing,and the nucleotide variant was confirmed by Sanger sequencing.In silico analyses were carried out to study the protein order-disorder functions and their effects on messenger ribonucleic acid(mRNA).RESULTS:Target panel sequencing revealed that the afflicted family members carried a novel frameshift mutation(NM_145178.4;c.91del G;p.Gly31Glyfs*55)that ensued in the conservation of an amino acid residue in the bHLH domain of ATOH7 protein.In silico studies predicted that the activity of the ATOH7 gene is probably affected by this mutation,which results in a shortened and nonfunctional protein.Three-dimensional structural analysis shows that DNA binding may be impacted by amino acid changes from non-polar to positively charged and vice versa(Arg42Pro and Pro18Arg),as well as from positively charged(Arg)to a small polar amino acid(Gly).CONCLUSION:A novel ATOH7 mutation is harmful.This study also emphasizes the potential effects of modified ATOH7 configurations on the stability and functionality of proteins.
基金Higher Education Commission (HEC) Islamabad, Pakistan for partly supporting this study
文摘Dear Sir,Iam Haiba Kaul,from the Department of Biochemistry,University of Health Sciences,Lahore,Pakistan.I write to present a study of oculocutaneous albinism（OCA）in consanguineous Pakistani families.OCA is a genetic defect of melanin biosynthesis that mainly affects eyes,skin and hair.
文摘We report novel gold nanoparticles by green method for different fruit extracts have gaining greater attention due to its versatile properties in different applications. In this article, GNPs synthesis is demonstrated successfully using fresh fruit extract of punica granatum and fragaria. The optical properties, morphology and elemental analysis of samples was done by using) different characterization techniques like SEM EDX and UV-Visible spectroscopy Biocompatibility of GNPs was determined by ALT, AST, ALP, Urea, Creatinine tests and also to investigate the effects of prepared GNPs on the kidney and liver functions. The GNPs prepared by fruit extract of punica granatum have more effects on the rabbits than GNPs prepared from fragaria but this effect normalizes after three days which shows its biocompatibility. To explore the photocatalytic activity of the GNPs the photocatalytic degradation of MB dye is also investigated. The results revealed that GNPs prepared through green synthesis route are found to be efficient enhancement in the degradation of MB dye in visible region due to large surface area. These particles were more active in catalytic reduction due to their high surface energy and in bio-medical applications as biocompatibility.
