FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4223623553> ?p ?o ?g. }

• W4223623553 endingPage "1798" @default.
• W4223623553 startingPage "1798" @default.
• W4223623553 abstract "Adult-onset familial insulinomatosis is a rare disorder with recurrent, severe hypoglycemia caused by multiple insulin-secreting pancreatic tumors. The etiology was unclear until the variant p.Ser64Phe in the transcription factor MAFA, a key coordinator of β-cell insulin secretion, was defined as the cause in two families. We here describe detailed genetic, clinical, and family analyses of two sisters with insulinomatosis, aiming to identify further disease causes. Using exome sequencing, we detected a novel, heterozygous missense variant, p.Thr57Arg, in MAFA's highly conserved transactivation domain. The impact of the affected region is so crucial that in vitro expression studies replacing Thr57 have already been performed, demonstrating a phosphorylation defect with the impairment of transactivation activity and degradation. However, prior to our study, the link to human disease was missing. Furthermore, mild hyperglycemia was observed in six additional, heterozygote family members, indicating that not only insulinomatosis but also MODY-like symptoms co-segregate with p.Thr57Arg. The pre-described MAFA variant, p.Ser64Phe, is located in the same domain, impairs the same phosphorylation cascade, and results in the same symptoms. We confirm MAFA phosphorylation defects are important causes of a characteristic syndrome, thus complementing the pathophysiological and diagnostic disease concept. Additionally, we verify the high penetrance and autosomal dominant inheritance pattern." @default.
• W4223623553 created "2022-04-15" @default.
• W4223623553 creator A5009102592 @default.
• W4223623553 creator A5012867413 @default.
• W4223623553 creator A5016353875 @default.
• W4223623553 creator A5022964306 @default.
• W4223623553 creator A5025468397 @default.
• W4223623553 creator A5060666837 @default.
• W4223623553 creator A5067116615 @default.
• W4223623553 creator A5071201712 @default.
• W4223623553 creator A5072862206 @default.
• W4223623553 creator A5075123905 @default.
• W4223623553 creator A5075174977 @default.
• W4223623553 date "2022-04-01" @default.
• W4223623553 modified "2023-10-18" @default.
• W4223623553 title "Second MAFA Variant Causing a Phosphorylation Defect in the Transactivation Domain and Familial Insulinomatosis" @default.
• W4223623553 cites W1973333569 @default.
• W4223623553 cites W1991703843 @default.
• W4223623553 cites W1994075387 @default.
• W4223623553 cites W1999376970 @default.
• W4223623553 cites W1999804485 @default.
• W4223623553 cites W2007655129 @default.
• W4223623553 cites W2009710060 @default.
• W4223623553 cites W2010735159 @default.
• W4223623553 cites W2012154903 @default.
• W4223623553 cites W2012835711 @default.
• W4223623553 cites W2016119395 @default.
• W4223623553 cites W2038374423 @default.
• W4223623553 cites W2040166077 @default.
• W4223623553 cites W2043250838 @default.
• W4223623553 cites W2051978340 @default.
• W4223623553 cites W2055240206 @default.
• W4223623553 cites W2056648381 @default.
• W4223623553 cites W2062705718 @default.
• W4223623553 cites W2064446723 @default.
• W4223623553 cites W2068126843 @default.
• W4223623553 cites W2079539798 @default.
• W4223623553 cites W2090110746 @default.
• W4223623553 cites W2093200783 @default.
• W4223623553 cites W2096258518 @default.
• W4223623553 cites W2098624009 @default.
• W4223623553 cites W2103306919 @default.
• W4223623553 cites W2109360431 @default.
• W4223623553 cites W2114361319 @default.
• W4223623553 cites W2117358640 @default.
• W4223623553 cites W2121499044 @default.
• W4223623553 cites W2130502250 @default.
• W4223623553 cites W2132981332 @default.
• W4223623553 cites W2139943786 @default.
• W4223623553 cites W2156475669 @default.
• W4223623553 cites W2165632078 @default.
• W4223623553 cites W2308326023 @default.
• W4223623553 cites W2327828572 @default.
• W4223623553 cites W2766208502 @default.
• W4223623553 cites W2782635830 @default.
• W4223623553 cites W2896922073 @default.
• W4223623553 cites W2990929279 @default.
• W4223623553 cites W3000462399 @default.
• W4223623553 cites W3012945645 @default.
• W4223623553 cites W3036979658 @default.
• W4223623553 cites W3138525552 @default.
• W4223623553 cites W4252841322 @default.
• W4223623553 doi "https://doi.org/10.3390/cancers14071798" @default.
• W4223623553 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35406570" @default.
• W4223623553 hasPublicationYear "2022" @default.
• W4223623553 type Work @default.
• W4223623553 citedByCount "1" @default.
• W4223623553 countsByYear W42236235532022 @default.
• W4223623553 crossrefType "journal-article" @default.
• W4223623553 hasAuthorship W4223623553A5009102592 @default.
• W4223623553 hasAuthorship W4223623553A5012867413 @default.
• W4223623553 hasAuthorship W4223623553A5016353875 @default.
• W4223623553 hasAuthorship W4223623553A5022964306 @default.
• W4223623553 hasAuthorship W4223623553A5025468397 @default.
• W4223623553 hasAuthorship W4223623553A5060666837 @default.
• W4223623553 hasAuthorship W4223623553A5067116615 @default.
• W4223623553 hasAuthorship W4223623553A5071201712 @default.
• W4223623553 hasAuthorship W4223623553A5072862206 @default.
• W4223623553 hasAuthorship W4223623553A5075123905 @default.
• W4223623553 hasAuthorship W4223623553A5075174977 @default.
• W4223623553 hasBestOaLocation W42236235531 @default.
• W4223623553 hasConcept C104317684 @default.
• W4223623553 hasConcept C10590036 @default.
• W4223623553 hasConcept C11960822 @default.
• W4223623553 hasConcept C126322002 @default.
• W4223623553 hasConcept C127716648 @default.
• W4223623553 hasConcept C1292079 @default.
• W4223623553 hasConcept C135763542 @default.
• W4223623553 hasConcept C153471976 @default.
• W4223623553 hasConcept C16671776 @default.
• W4223623553 hasConcept C200544954 @default.
• W4223623553 hasConcept C2779134260 @default.
• W4223623553 hasConcept C501734568 @default.
• W4223623553 hasConcept C502942594 @default.
• W4223623553 hasConcept C54355233 @default.
• W4223623553 hasConcept C60644358 @default.
• W4223623553 hasConcept C71924100 @default.
• W4223623553 hasConcept C75563809 @default.

• next