Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss

Noman, Muhammad; Bukhari, Shazia Anwer; Rehman, Sakina; Qasim, Muhammad; Ali, Muhammad; Riazuddin, Saima; Ahmed, Zubair M.

doi:10.1007/s11033-020-06016-y

Cited by 3 publications

(5 citation statements)

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“…As part of our ongoing efforts to ascertain and clinically and genetically characterize Pakistani families with hearing loss [ 14 , 15 ], three new large consanguineous families were enrolled from the Punjab province of Pakistan after approval from the Institutional Review Board (IRB) of University of Maryland School of Medicine, Baltimore, MD, USA, and the Government College University, Faisalabad, Pakistan. In all affected individuals, HL was observed from birth, except for the affected individuals of family GCFHL-01 who had progressive HL and were diagnosed after 4-5 years of age.…”

Section: Resultsmentioning

confidence: 99%

[Retracted] Identification of Hearing Loss‐Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families

Mahmood

Bukhari

Ali

et al. 2021

BioMed Research International

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The inner ear is an essential part of a well-developed and well-coordinated hearing system. However, hearing loss can make communication and interaction more difficult. Inherited hearing loss (HL) can occur from pathogenic genetic variants that negatively alter the intricate inner ear sensory mechanism. Recessively inherited forms of HL are highly heterogeneous and account for a majority of prelingual deafness. The current study is designed to investigate genetic causes of HL in three consanguineous Pakistani families. After IRB approval, the clinical history and pure tone audiometric data was obtained for the clinical diagnosis of HL segregating in these three Pakistani families. We performed whole exome sequencing (WES) followed by Sanger sequencing in order to identify and validate the HL-associated pathogenic variants, respectively. The 3-D molecular modeling and the Ramachandran analysis of the identified missense variants were compiled to evaluate the impact of the variants on the encoded proteins. Clinical evaluation revealed prelingual severe to profound sensorineural HL segregating among the affected individuals in all three families. Genetic analysis revealed segregation of several novel variants associated with HL, including a canonical splice-site variant (c.55-2A>G) of PTPRQ in family GCFHL-01, a missense variant [c.1079G>A; p.(Arg360Gln)] of SERPINB6 in family LUHL-01, and an insertion variant (c.10208-10211insCCACCAGGCCCGTGCCTC) within MYO15A in family LUHL-011. All the identified variants had very low frequencies in the control databases. The molecular modeling of p.Arg360Gln missense variant also predicted impaired folding of SERPINB6 protein. This study reports the identification of novel disease-causing variants in three known deafness genes and further highlights the genetic heterogeneity of HL in Pakistani population.

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Section: Resultsmentioning

confidence: 99%

[Retracted] Identification of Hearing Loss‐Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families

Mahmood

Bukhari

Ali

et al. 2021

BioMed Research International

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“…[25] Moreover, their protons can form water with the oxygen of the metal oxide. Different carboxyl [30] as well as sulfonic, [31] sulfamic [10] or alkylsulfuric [9] acid-functionalized TSIL were reported, whereby even rather inert metal oxides could be dissolved.…”

Section: Introductionmentioning

confidence: 99%

Speciation of Copper(II)‐Betaine Complexes as Starting Point for Electrochemical Copper Deposition from Ionic Liquids

2020

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The application of ionic liquids for the dissolution of metal oxides is a promising field for the development of more energy‐ and resource‐efficient metallurgical processes. Using such solutions for the production of valuable chemicals or electrochemical metal deposition requires a detailed understanding of the chemical system and the factors influencing it. In the present work, several compounds are reported that crystallize after the dissolution of copper(II) oxide in the ionic liquid [Hbet][NTf2]. Dependent on the initial amount of chloride, the reaction temperature and the purity of the reagent, copper crystallizes in complexes with varying coordination geometries and ligands. Subsequently, the influence of these different complex species on electrochemical properties is shown. For the first time, copper is deposited from the ionic liquid [Hbet][NTf2], giving promising opportunities for more resource‐efficient copper plating. The copper coatings were analyzed by SEM and EDX measurements. Furthermore, a mechanism for the decomposition of [Hbet][NTf2] in the presence of chloride is suggested and supported by experimental evidence.

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“…The protonated carboxyl-functionalized ionic liquid betainium bis(trifluoromethylsulfonyl)imide [Hbet][Tf 2 N] can dissolve large quantities of metal oxides due to the carboxylic acid group (pK a = 1.83) located on the cation of the ionic liquid. 23,31 This difference in solubility can be exploited to selectively recover indium from the crude In(OH) 3 . The selectivity and kinetics of the dissolution process are affected by the water content in the ionic liquid.…”

Section: Leaching Of Crude In(oh) 3 In [Hbet][tf 2 N]mentioning

confidence: 99%

“…Water accelerates the dissolution of metal oxides because it lowers the viscosity, facilitates the exchange of protons from the betaine groups and enhances the solvation of ions in the ionic liquid. 23,25,26,28,31 Therefore, all the leaching tests were executed with a watersaturated ionic liquid (13 wt%).…”

Section: Leaching Of Crude In(oh) 3 In [Hbet][tf 2 N]mentioning

confidence: 99%

“…Ag(I), Mn(II), Cu(II), Cd(II) and rare-earth complexes with betainium ligands that exhibit polymeric structures have already been reported in the literature. 23,31,36 When the filtered solution was cooled, phase separation occurred, consequently decreasing the water content of the ionic liquid phase, water that was previously preventing the indium from coordinating with the betainium ligands. The bright particles observed with SEM consisted of Pb, S and O, possibly indicating the presence of PbSO 4 .…”

Section: Thermomorphic Leaching/extraction In a [Hbet][tf 2 N]-h 2 O Systemmentioning

confidence: 99%

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Purification of crude In(OH)₃ using the functionalized ionic liquid betainium bis(trifluoromethylsulfonyl)imide

et al. 2018

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Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss

Cited by 3 publications

References 24 publications

[Retracted] Identification of Hearing Loss‐Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families

[Retracted] Identification of Hearing Loss‐Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families

Speciation of Copper(II)‐Betaine Complexes as Starting Point for Electrochemical Copper Deposition from Ionic Liquids

Purification of crude In(OH)₃ using the functionalized ionic liquid betainium bis(trifluoromethylsulfonyl)imide

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Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss

Cited by 3 publications

References 24 publications

[Retracted] Identification of Hearing Loss‐Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families

[Retracted] Identification of Hearing Loss‐Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families

Speciation of Copper(II)‐Betaine Complexes as Starting Point for Electrochemical Copper Deposition from Ionic Liquids

Purification of crude In(OH)3 using the functionalized ionic liquid betainium bis(trifluoromethylsulfonyl)imide

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Purification of crude In(OH)₃ using the functionalized ionic liquid betainium bis(trifluoromethylsulfonyl)imide