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dc.contributor.authorTürker Şener, Leyla
dc.contributor.authorAktan, Melih
dc.contributor.authorAlbeniz, Gürcan
dc.contributor.authorŞener, Aziz
dc.contributor.authorÜstek, Duran
dc.contributor.authorAlbeniz, Işıl
dc.date.accessioned10.07.201910:49:13
dc.date.accessioned2019-07-10T19:49:35Z
dc.date.available10.07.201910:49:13
dc.date.available2019-07-10T19:49:35Z
dc.date.issued2019en_US
dc.identifier.citationŞener, L. T., Aktan, M., Albeniz, G., Şener, A., Üstek, D. ve Albeniz, I. (2019). Identification of red blood cell membrane defects in a patient with hereditary spherocytosis using next-generation sequencing technology and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Molecular Medicine Reports, 19(5), 3912-3922. https://dx.doi.org/10.3892/mmr.2019.10036en_US
dc.identifier.issn1791-2997
dc.identifier.issn1791-3004
dc.identifier.urihttps://dx.doi.org/10.3892/mmr.2019.10036
dc.identifier.urihttps://hdl.handle.net/20.500.12511/1662
dc.descriptionWOS: 000465868800060en_US
dc.descriptionPubMed ID: 30896804en_US
dc.description.abstractHereditary spherocytosis (HS) is characterized by the morphological transformation of erythrocytes into a spherical shape due to a hereditary defect in cell membrane proteins (ghosts) associated with disruption of erythrocyte skeletal structures. Contrary to the literature, pores were detected in the erythrocytes of a patient with HS. The aim of the present study was to determine the affected proteins and genes that were responsible for the pores. Ghost isolation was performed to determine the proteins responsible for the pores observed on the erythrocytes of the patient. Erythrocyte membrane proteins were visualized using SDS-PAGE. Exome and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI TOF MS) analyses were used to identify the genes and proteins responsible for the observed defect. Quantitative protein assessments were performed using MALDI TOF MS. A difference was detected in the components of the erythrocyte membrane proteins. Band 3 and protein 4.2, which serve a particular role in membrane structure, decreased 4.573 and 4.106 fold, respectively. Through proteomic analyses, a non-synonymous exonic mutation region was identified in the Golgi membrane protein 1 (GOLM1) gene (Chr9 rs142242230). Sorting Intolerant From Tolerant and Polymorphism Phenotyping Scores, Likelihood Ratio Tests and MutationTaster revealed that the mutation was deleterious. The pores observed in the morphology of the erythrocytes may have developed due to the decrease in these proteins, which reside in the erythrocyte membrane structure. Furthermore, genetic profiling of the patient with HS and her family was conducted in the present study. Next-generation sequencing was used, and the genetic source of HS was identified as a GOLM1 gene mutation. The assessment of specific molecular defects is often not performed as the majority of mutations are unique to a family. However, molecular analyses should be performed in severe cases where prenatal diagnosis is required, or for unique HS phenotypes to aid scientific investigation.en_US
dc.description.sponsorshipIstanbul University [35214]en_US
dc.description.sponsorshipThe present study was supported by the research fund of Istanbul University (grant no. 35214).en_US
dc.language.isoengen_US
dc.publisherSpandidos Publ Ltden_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectHereditary Spherocytosisen_US
dc.subjectMatrix-Assisted Laser Desorptionen_US
dc.subjectIonization Time-Of-Flight Mass Spectrometryen_US
dc.subjectNext-Generation Sequencingen_US
dc.subjectExome Captureen_US
dc.subjectScanning Electron Microscopyen_US
dc.titleIdentification of red blood cell membrane defects in a patient with hereditary spherocytosis using next-generation sequencing technology and matrix-assisted laser desorption/ionization time-of-flight mass spectrometryen_US
dc.typearticleen_US
dc.relation.ispartofMolecular Medicine Reportsen_US
dc.departmentİstanbul Medipol Üniversitesi, Rektörlük, Rejeneratif ve Restoratif Tıp Araştırmaları Merkezi (REMER)en_US
dc.authorid0000-0002-0060-2859en_US
dc.identifier.volume19en_US
dc.identifier.issue5en_US
dc.identifier.startpage3912en_US
dc.identifier.endpage3922en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.doi10.3892/mmr.2019.10036en_US
dc.identifier.wosqualityQ3en_US
dc.identifier.scopusqualityQ3en_US


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