FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4214826657> ?p ?o ?g. }

• W4214826657 abstract "Abstract Multiple sclerosis (MS) is a degenerative disease of the central nervous system in which auto-immunity-induced demyelination occurs. MS is thought to be caused by a complex interplay of environmental and genetic risk factors. While most genetic studies have focused on identifying common genetic variants for MS through genome-wide association studies, the objective of the present study was to identify rare genetic variants contributing to MS susceptibility. We used whole exome sequencing (WES) followed by co-segregation analyses in nine multi-incident families with 2 to 4 affected individuals. WES was performed in 31 family members with and without MS. After applying a suite of selection criteria, co-segregation analyses for a number of rare variants selected from the WES results were performed, adding 24 family members. This approach resulted in 12 exonic rare variants that showed acceptable co-segregation with MS within the nine families, implicating the genes MBP, PLK1, MECP2, MTMR7, TOX3, CPT1A, SORCS1, TRIM66, ITPR3, TTC28, CACNA1F , and PRAM1 . Of these, three genes ( MBP, MECP2 , and CPT1A ) have been previously reported as carrying MS-related rare variants. Six additional genes ( MTMR7, TOX3, SORCS1, ITPR3, TTC28 , and PRAM1 ) have also been implicated in MS through common genetic variants. The proteins encoded by all twelve genes containing rare variants interact in a molecular framework that points to biological processes involved in (de-/re-)myelination and auto-immunity. Our approach provides clues to possible molecular mechanisms underlying MS that should be further studied in cellular and/or animal models." @default.
• W4214826657 created "2022-03-05" @default.
• W4214826657 creator A5002842311 @default.
• W4214826657 creator A5005188831 @default.
• W4214826657 creator A5006074587 @default.
• W4214826657 creator A5014907669 @default.
• W4214826657 creator A5016802340 @default.
• W4214826657 creator A5023972995 @default.
• W4214826657 creator A5030284048 @default.
• W4214826657 creator A5032437713 @default.
• W4214826657 creator A5035651136 @default.
• W4214826657 creator A5038768167 @default.
• W4214826657 creator A5038874292 @default.
• W4214826657 creator A5060039981 @default.
• W4214826657 creator A5065257658 @default.
• W4214826657 creator A5085162541 @default.
• W4214826657 creator A5085834116 @default.
• W4214826657 creator A5089722435 @default.
• W4214826657 creator A5090125812 @default.
• W4214826657 date "2022-03-01" @default.
• W4214826657 modified "2023-10-10" @default.
• W4214826657 title "Whole exome sequencing in multi-incident families identifies novel candidate genes for multiple sclerosis" @default.
• W4214826657 cites W1225123808 @default.
• W4214826657 cites W1537028966 @default.
• W4214826657 cites W1562566320 @default.
• W4214826657 cites W1966330282 @default.
• W4214826657 cites W1971634147 @default.
• W4214826657 cites W1975025950 @default.
• W4214826657 cites W1976524478 @default.
• W4214826657 cites W1976919761 @default.
• W4214826657 cites W1977213877 @default.
• W4214826657 cites W1977877423 @default.
• W4214826657 cites W1980991473 @default.
• W4214826657 cites W1984349552 @default.
• W4214826657 cites W1987700102 @default.
• W4214826657 cites W1990771063 @default.
• W4214826657 cites W2005928344 @default.
• W4214826657 cites W2006952734 @default.
• W4214826657 cites W2011023406 @default.
• W4214826657 cites W2011089854 @default.
• W4214826657 cites W2013234597 @default.
• W4214826657 cites W2018668951 @default.
• W4214826657 cites W2021425980 @default.
• W4214826657 cites W2024140382 @default.
• W4214826657 cites W2051314902 @default.
• W4214826657 cites W2054975882 @default.
• W4214826657 cites W2067093227 @default.
• W4214826657 cites W2074074558 @default.
• W4214826657 cites W2075980437 @default.
• W4214826657 cites W2077422609 @default.
• W4214826657 cites W2082429447 @default.
• W4214826657 cites W2083334063 @default.
• W4214826657 cites W2083485745 @default.
• W4214826657 cites W2085412596 @default.
• W4214826657 cites W2109574134 @default.
• W4214826657 cites W2123586105 @default.
• W4214826657 cites W2158156478 @default.
• W4214826657 cites W2158647041 @default.
• W4214826657 cites W2160995259 @default.
• W4214826657 cites W2182301246 @default.
• W4214826657 cites W2347023637 @default.
• W4214826657 cites W2415607391 @default.
• W4214826657 cites W2535103739 @default.
• W4214826657 cites W2563602454 @default.
• W4214826657 cites W2576554407 @default.
• W4214826657 cites W2593576640 @default.
• W4214826657 cites W2601880045 @default.
• W4214826657 cites W2604516619 @default.
• W4214826657 cites W2613587632 @default.
• W4214826657 cites W2616561032 @default.
• W4214826657 cites W2624741517 @default.
• W4214826657 cites W2625819915 @default.
• W4214826657 cites W2745869172 @default.
• W4214826657 cites W2752730750 @default.
• W4214826657 cites W2770653478 @default.
• W4214826657 cites W2786103662 @default.
• W4214826657 cites W2788933778 @default.
• W4214826657 cites W2789900283 @default.
• W4214826657 cites W2806513592 @default.
• W4214826657 cites W2839922892 @default.
• W4214826657 cites W2914720734 @default.
• W4214826657 cites W2948748475 @default.
• W4214826657 cites W2950113152 @default.
• W4214826657 cites W2973901720 @default.
• W4214826657 cites W2974302748 @default.
• W4214826657 cites W2981477552 @default.
• W4214826657 cites W2982384088 @default.
• W4214826657 cites W2998951285 @default.
• W4214826657 cites W3080756348 @default.
• W4214826657 cites W3133782383 @default.
• W4214826657 cites W3138286502 @default.
• W4214826657 cites W3180380169 @default.
• W4214826657 cites W3211182535 @default.
• W4214826657 cites W4211090999 @default.
• W4214826657 cites W775956452 @default.
• W4214826657 cites W828263635 @default.
• W4214826657 doi "https://doi.org/10.1101/2022.02.28.22271609" @default.
• W4214826657 hasPublicationYear "2022" @default.
• W4214826657 type Work @default.
• W4214826657 citedByCount "1" @default.

• next