FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2520107712> ?p ?o ?g. }

• W2520107712 endingPage "616" @default.
• W2520107712 startingPage "604" @default.
• W2520107712 abstract "Four patients from three Norwegian families presented with a common skin phenotype of warts, molluscum contagiosum, and dermatitis since early childhood, and various other immunological features. Warts are a common manifestation of human papilloma virus (HPV), but when they are overwhelming, disseminated and/or persistent, and presenting together with other immunological features, a primary immunodeficiency disease (PIDD) may be suspected.The four patients were exome sequenced as part of a larger study for detecting genetic causes of primary immunodeficiencies. No disease-causing variants were identified in known primary immunodeficiency genes or in other disease-related OMIM genes. However, the same homozygous missense variant in CARMIL2 (also known as RLTPR) was identified in all four patients. In each family, the variant was located within a narrow region of homozygosity, representing a potential region of autozygosity. CARMIL2 is a protein of undetermined function. A role in T-cell activation has been suggested and the mouse protein homolog (Rltpr) is essential for costimulation of T-cell activation via CD28, and for the development of regulatory T cells. Immunophenotyping demonstrated reduced regulatory, CD4+ memory, and CD4+ follicular T cells in all four patients. In addition, they all seem to have a deficiency in IFN γ -synthesis in CD4+ T cells and NK cells.We report a novel primary immunodeficiency, and a differential molecular diagnosis to CXCR4-,DOCK8-,GATA2-,MAGT1-,MCM4-,STK4-,RHOH-,TMC6-, and TMC8-related diseases. The specific variant may represent a Norwegian founder variant segregating on a population-specific haplotype." @default.
• W2520107712 created "2016-09-23" @default.
• W2520107712 creator A5000612576 @default.
• W2520107712 creator A5000880809 @default.
• W2520107712 creator A5004823101 @default.
• W2520107712 creator A5005612728 @default.
• W2520107712 creator A5016927029 @default.
• W2520107712 creator A5017461976 @default.
• W2520107712 creator A5024900469 @default.
• W2520107712 creator A5027866836 @default.
• W2520107712 creator A5035249823 @default.
• W2520107712 creator A5037749785 @default.
• W2520107712 creator A5044766980 @default.
• W2520107712 creator A5047278844 @default.
• W2520107712 creator A5056743131 @default.
• W2520107712 creator A5059626751 @default.
• W2520107712 creator A5075022984 @default.
• W2520107712 creator A5075068848 @default.
• W2520107712 creator A5076836210 @default.
• W2520107712 creator A5079290300 @default.
• W2520107712 creator A5084069121 @default.
• W2520107712 creator A5090064117 @default.
• W2520107712 date "2016-09-17" @default.
• W2520107712 modified "2023-10-18" @default.
• W2520107712 title "A potential founder variant in<i>CARMIL2/RLTPR</i>in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction" @default.
• W2520107712 cites W1499500424 @default.
• W2520107712 cites W1803102843 @default.
• W2520107712 cites W1970953993 @default.
• W2520107712 cites W1981135622 @default.
• W2520107712 cites W1984068087 @default.
• W2520107712 cites W2012034410 @default.
• W2520107712 cites W2012896813 @default.
• W2520107712 cites W2020602868 @default.
• W2520107712 cites W2021636759 @default.
• W2520107712 cites W2029983700 @default.
• W2520107712 cites W2061043894 @default.
• W2520107712 cites W2064419492 @default.
• W2520107712 cites W2069610073 @default.
• W2520107712 cites W2070922393 @default.
• W2520107712 cites W2073764175 @default.
• W2520107712 cites W2075742801 @default.
• W2520107712 cites W2081819461 @default.
• W2520107712 cites W2092765212 @default.
• W2520107712 cites W2096791516 @default.
• W2520107712 cites W2101365401 @default.
• W2520107712 cites W2103441770 @default.
• W2520107712 cites W2106914804 @default.
• W2520107712 cites W2108234281 @default.
• W2520107712 cites W2115437482 @default.
• W2520107712 cites W2117131162 @default.
• W2520107712 cites W2119180969 @default.
• W2520107712 cites W2119818111 @default.
• W2520107712 cites W2120772351 @default.
• W2520107712 cites W2122732537 @default.
• W2520107712 cites W2131200545 @default.
• W2520107712 cites W2133174470 @default.
• W2520107712 cites W2149992227 @default.
• W2520107712 cites W2161906835 @default.
• W2520107712 cites W2168133698 @default.
• W2520107712 cites W2239521520 @default.
• W2520107712 cites W2336032265 @default.
• W2520107712 cites W2490698663 @default.
• W2520107712 cites W2739999456 @default.
• W2520107712 doi "https://doi.org/10.1002/mgg3.237" @default.
• W2520107712 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5118205" @default.
• W2520107712 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27896283" @default.
• W2520107712 hasPublicationYear "2016" @default.
• W2520107712 type Work @default.
• W2520107712 sameAs 2520107712 @default.
• W2520107712 citedByCount "52" @default.
• W2520107712 countsByYear W25201077122017 @default.
• W2520107712 countsByYear W25201077122018 @default.
• W2520107712 countsByYear W25201077122019 @default.
• W2520107712 countsByYear W25201077122020 @default.
• W2520107712 countsByYear W25201077122021 @default.
• W2520107712 countsByYear W25201077122022 @default.
• W2520107712 countsByYear W25201077122023 @default.
• W2520107712 crossrefType "journal-article" @default.
• W2520107712 hasAuthorship W2520107712A5000612576 @default.
• W2520107712 hasAuthorship W2520107712A5000880809 @default.
• W2520107712 hasAuthorship W2520107712A5004823101 @default.
• W2520107712 hasAuthorship W2520107712A5005612728 @default.
• W2520107712 hasAuthorship W2520107712A5016927029 @default.
• W2520107712 hasAuthorship W2520107712A5017461976 @default.
• W2520107712 hasAuthorship W2520107712A5024900469 @default.
• W2520107712 hasAuthorship W2520107712A5027866836 @default.
• W2520107712 hasAuthorship W2520107712A5035249823 @default.
• W2520107712 hasAuthorship W2520107712A5037749785 @default.
• W2520107712 hasAuthorship W2520107712A5044766980 @default.
• W2520107712 hasAuthorship W2520107712A5047278844 @default.
• W2520107712 hasAuthorship W2520107712A5056743131 @default.
• W2520107712 hasAuthorship W2520107712A5059626751 @default.
• W2520107712 hasAuthorship W2520107712A5075022984 @default.
• W2520107712 hasAuthorship W2520107712A5075068848 @default.
• W2520107712 hasAuthorship W2520107712A5076836210 @default.
• W2520107712 hasAuthorship W2520107712A5079290300 @default.
• W2520107712 hasAuthorship W2520107712A5084069121 @default.
• W2520107712 hasAuthorship W2520107712A5090064117 @default.

• next