FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2792808900> ?p ?o ?g. }

• W2792808900 abstract "We investigated the molecular etiology of a young male proband with confirmed immunodeficiency of unknown cause, presenting with recurrent bacterial and Varicella zoster viral infections in childhood and persistent lymphopenia into early adulthood.To identify causative functional genetic variants related to an undiagnosed primary immunodeficiency.Whole genome microarray copy number variant (CNV) analysis was performed on the proband followed by whole exome sequencing (WES) and trio analysis of the proband and family members. A >4 kbp deletion identified by repeated CNV analysis of exome sequencing data along with three damaging missense single nucleotide variants were validated by Sanger sequencing in all family members. Confirmation of the causative role of the candidate gene was performed by qPCR and Western Blot analyses on the proband, family members and a healthy control.CNV identified our previously reported interleukin 25 amplification in the proband; however, the variant was not validated to be a candidate gene for immunodeficiency. WES trio analysis, data filtering and in silico prediction identified a novel, damaging (SIFT: 0; Polyphen 1; Grantham score: 101) and disease-causing (MutationTaster) single base mutation in the X chromosome (c.511C > T p.Arg171Trp) MSN gene not identified in the UCSC Genome Browser database. The mutation was validated by Sanger sequencing, confirming the proband was hemizygous X-linked recessive (-/T) at this locus and inherited the affected T allele from his non-symptomatic carrier mother (C/T), with other family members (father, sister) confirmed to be wild type (C/C). Western Blot analysis demonstrated an absence of moesin protein in lymphocytes derived from the proband, compared with normal expression in lymphocytes derived from the healthy control, father and mother. qPCR identified significantly lower MSN mRNA transcript expression in the proband compared to an age- and sex-matched healthy control subject in whole blood (p = 0.02), and lymphocytes (p = 0.01). These results confirmed moesin deficiency in the proband, directly causative of his immunodeficient phenotype.These findings confirm X-linked moesin-associated immunodeficiency in a proband previously undiagnosed up to 24 years of age. This study also highlights the utility of WES for the diagnosis of rare or novel forms of primary immunodeficiency disease." @default.
• W2792808900 created "2018-03-29" @default.
• W2792808900 creator A5000250446 @default.
• W2792808900 creator A5012222570 @default.
• W2792808900 creator A5017852596 @default.
• W2792808900 creator A5032050886 @default.
• W2792808900 creator A5049598090 @default.
• W2792808900 creator A5064721297 @default.
• W2792808900 creator A5071439468 @default.
• W2792808900 creator A5077969515 @default.
• W2792808900 creator A5079231232 @default.
• W2792808900 creator A5079509111 @default.
• W2792808900 creator A5080957462 @default.
• W2792808900 creator A5083587241 @default.
• W2792808900 date "2018-03-05" @default.
• W2792808900 modified "2023-10-13" @default.
• W2792808900 title "Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case" @default.
• W2792808900 cites W1563940013 @default.
• W2792808900 cites W1931185549 @default.
• W2792808900 cites W1979214076 @default.
• W2792808900 cites W1984576497 @default.
• W2792808900 cites W2013326607 @default.
• W2792808900 cites W2021307865 @default.
• W2792808900 cites W2028292318 @default.
• W2792808900 cites W2032247293 @default.
• W2792808900 cites W2041711081 @default.
• W2792808900 cites W2050604953 @default.
• W2792808900 cites W2060075862 @default.
• W2792808900 cites W2076357933 @default.
• W2792808900 cites W2107553722 @default.
• W2792808900 cites W2118140057 @default.
• W2792808900 cites W2130653607 @default.
• W2792808900 cites W2152273129 @default.
• W2792808900 cites W2154794733 @default.
• W2792808900 cites W2167404136 @default.
• W2792808900 cites W2196690866 @default.
• W2792808900 cites W2415163896 @default.
• W2792808900 cites W2528460956 @default.
• W2792808900 cites W2539420230 @default.
• W2792808900 cites W2559028527 @default.
• W2792808900 cites W2603386141 @default.
• W2792808900 cites W2604411417 @default.
• W2792808900 cites W2736961920 @default.
• W2792808900 doi "https://doi.org/10.3389/fimmu.2018.00420" @default.
• W2792808900 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5845094" @default.
• W2792808900 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29556235" @default.
• W2792808900 hasPublicationYear "2018" @default.
• W2792808900 type Work @default.
• W2792808900 sameAs 2792808900 @default.
• W2792808900 citedByCount "22" @default.
• W2792808900 countsByYear W27928089002018 @default.
• W2792808900 countsByYear W27928089002019 @default.
• W2792808900 countsByYear W27928089002020 @default.
• W2792808900 countsByYear W27928089002021 @default.
• W2792808900 countsByYear W27928089002022 @default.
• W2792808900 countsByYear W27928089002023 @default.
• W2792808900 crossrefType "journal-article" @default.
• W2792808900 hasAuthorship W2792808900A5000250446 @default.
• W2792808900 hasAuthorship W2792808900A5012222570 @default.
• W2792808900 hasAuthorship W2792808900A5017852596 @default.
• W2792808900 hasAuthorship W2792808900A5032050886 @default.
• W2792808900 hasAuthorship W2792808900A5049598090 @default.
• W2792808900 hasAuthorship W2792808900A5064721297 @default.
• W2792808900 hasAuthorship W2792808900A5071439468 @default.
• W2792808900 hasAuthorship W2792808900A5077969515 @default.
• W2792808900 hasAuthorship W2792808900A5079231232 @default.
• W2792808900 hasAuthorship W2792808900A5079509111 @default.
• W2792808900 hasAuthorship W2792808900A5080957462 @default.
• W2792808900 hasAuthorship W2792808900A5083587241 @default.
• W2792808900 hasBestOaLocation W27928089001 @default.
• W2792808900 hasConcept C104317684 @default.
• W2792808900 hasConcept C120821319 @default.
• W2792808900 hasConcept C12125453 @default.
• W2792808900 hasConcept C141231307 @default.
• W2792808900 hasConcept C16671776 @default.
• W2792808900 hasConcept C188997412 @default.
• W2792808900 hasConcept C2777607303 @default.
• W2792808900 hasConcept C2779019163 @default.
• W2792808900 hasConcept C501734568 @default.
• W2792808900 hasConcept C54355233 @default.
• W2792808900 hasConcept C75563809 @default.
• W2792808900 hasConcept C76818968 @default.
• W2792808900 hasConcept C84597430 @default.
• W2792808900 hasConcept C86803240 @default.
• W2792808900 hasConcept C8891405 @default.
• W2792808900 hasConceptScore W2792808900C104317684 @default.
• W2792808900 hasConceptScore W2792808900C120821319 @default.
• W2792808900 hasConceptScore W2792808900C12125453 @default.
• W2792808900 hasConceptScore W2792808900C141231307 @default.
• W2792808900 hasConceptScore W2792808900C16671776 @default.
• W2792808900 hasConceptScore W2792808900C188997412 @default.
• W2792808900 hasConceptScore W2792808900C2777607303 @default.
• W2792808900 hasConceptScore W2792808900C2779019163 @default.
• W2792808900 hasConceptScore W2792808900C501734568 @default.
• W2792808900 hasConceptScore W2792808900C54355233 @default.
• W2792808900 hasConceptScore W2792808900C75563809 @default.
• W2792808900 hasConceptScore W2792808900C76818968 @default.
• W2792808900 hasConceptScore W2792808900C84597430 @default.
• W2792808900 hasConceptScore W2792808900C86803240 @default.
• W2792808900 hasConceptScore W2792808900C8891405 @default.

• next