Copyright 2024
| PMID | Allele | Disease | Population | Drug Names | SNP | Class | Sentence |
|---|---|---|---|---|---|---|---|
| 32212948 | MHC (MHC) | 22q112 deletion syndrome | NA | NA | NA | unclassified | |
| differential methylation of imprinting genes and mhc locus in 22q11.2 deletion syndrome-related schizophrenia spectrum disorders. | |||||||
| 32212948 | MHC (MHC) | 22q11.2ds | NA | NA | NA | unclassified | |
| the most significant dmr is located in mhc locus and covered the transcription regulator zfp57 that is required for control and maintenance of gene imprinting at multiple icrs.conclusions: the differential methylation in imprinting genes and in chr6p21-22 indicate the neurodevelopmental nature of 22q11.2ds-related sz and the major role of mhc locus in the risk to develop sz. | |||||||
| 32212948 | MHC (MHC) | 22q11.2ds | NA | NA | NA | unclassified | |
| the differential methylation in imprinting genes and in chr6p21-22 indicate the neurodevelopmental nature of 22q11.2ds-related sz and the major role of mhc locus in the risk to develop sz. | |||||||
| 32500460 | HLA (HLA) | x-linked hyper igm syndrome | NA | NA | NA | unclassified | |
| complex preimplantation genetic tests for robertsonian translocation, hla, and x-linked hyper igm syndrome caused by a novel mutation of cd40lg gene. | |||||||
| 32500460 | HLA (HLA) | x-linked hyper igm syndrome | NA | NA | NA | unclassified | |
| purposeto perform complex preimplantation genetic tests (pgt) for aneuploidy screening, robertsonian translocation, hla-matching, and x-linked hyper igm syndrome (xhigm) caused by a novel mutation c.156 g>t of cd40lg gene. | |||||||
| 32500460 | HLA (HLA) | x-linked hyper igm syndrome | NA | NA | NA | unclassified | |
| the novel mutation of c. 156 g>t in cd40lg gene probably leads to xhigm by nonsense-meditated mrna decay (nmd), and complex pgt of preimplantation genetic testing for monogenic disease (pgt-m), aneuploidy (pgt-a), structural rearrangement (pgt-sr), and hla-matching (pgt-hla) can be performed in pedigree with both x-linked hyper igm syndrome and robertsonian translocation. | |||||||
| 32722785 | HLA MATCHED (HLA-MATCHED) | invasive fungal infection | NA | NA | NA | unclassified | |
| these data support the establishment of a bank of cryopreserved fungus-specific t cells using normal donors with common hla drb1 molecules and testing of partially hla-matched third-party donor fungus-specific t cells as a potential therapeutic in patients with invasive fungal infection after hsct. | |||||||
| 32722785 | HLA-DRB1 (HLA-DRB1) | invasive fungal infection | NA | NA | NA | unclassified | |
| these data support the establishment of a bank of cryopreserved fungus-specific t cells using normal donors with common hla drb1 molecules and testing of partially hla-matched third-party donor fungus-specific t cells as a potential therapeutic in patients with invasive fungal infection after hsct. | |||||||
| 32771349 | HLA (HLA) | pain postoperative | NA | NA | NA | unclassified | |
| gene expression analysis identified hla-drb3 as having increased expression in children who experienced persistent pain postoperatively, as opposed to those whose pain resolved. | |||||||
| 34174520 | HLA (HLA) | gallstones | NA | NA | NA | unclassified | |
| preliminary studies have shown that a lithogenic diet (lg), which contains cholesterol and cholic acid, induces gallstones and hepatic lipid accumulation (hla), and reduction of blood triglyceride in mice. | |||||||
Copyright 2024