FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2112006955> ?p ?o ?g. }

• W2112006955 abstract "The presence of unique copy number variations (CNVs) in miscarriages suggests that their integral genes have a role in maintaining early pregnancy. In our previous work, we identified 19 unique CNVs in ~40% of studied euploid miscarriages, which were predominantly familial in origin. In our current work, we assessed their relevance to miscarriage by expression analysis of 14 genes integral to CNVs in available miscarriage chorionic villi. As familial CNVs could cause miscarriage due to imprinting effect, we investigated the allelic expression of one of the genes (TIMP2) previously suggested to be maternally expressed in placenta and involved in placental remodelling and embryo development. Six out of fourteen genes had detectable expression in villi and for three genes the RNA and protein expression was altered due to maternal CNVs. These genes were integral to duplication on Xp22.2 (TRAPPC2 and OFD1) or disrupted by a duplication mapping to 17q25.3 (TIMP2). RNA and protein expression was increased for TRAPPC2 and OFD1 and reduced for TIMP2 in carrier miscarriages. The three genes have roles in processes important for pregnancy development such as extracellular matrix homeostasis (TIMP2 and TRAPPC2) and cilia function (OFD1). TIMP2 allelic expression was not affected by the CNV in miscarriages in comparison to control elective terminations. We propose that functional studies of CNVs could help determine if and how the miscarriage CNVs affect the expression of integral genes. In case of parental CNVs, assessment of the function of their integral genes in parental reproductive tissues should be also considered in the future, especially if they affect processes relevant for pregnancy development and support." @default.
• W2112006955 created "2016-06-24" @default.
• W2112006955 creator A5019249853 @default.
• W2112006955 creator A5024431722 @default.
• W2112006955 creator A5042523204 @default.
• W2112006955 creator A5043017594 @default.
• W2112006955 creator A5081072784 @default.
• W2112006955 creator A5083611772 @default.
• W2112006955 creator A5088956309 @default.
• W2112006955 creator A5091195161 @default.
• W2112006955 date "2015-01-31" @default.
• W2112006955 modified "2023-10-16" @default.
• W2112006955 title "Functional consequences of copy number variants in miscarriage" @default.
• W2112006955 cites W1544053957 @default.
• W2112006955 cites W1966039946 @default.
• W2112006955 cites W1973844575 @default.
• W2112006955 cites W1974708467 @default.
• W2112006955 cites W1975593847 @default.
• W2112006955 cites W1981988753 @default.
• W2112006955 cites W1986049092 @default.
• W2112006955 cites W1987438323 @default.
• W2112006955 cites W2003398298 @default.
• W2112006955 cites W2003538821 @default.
• W2112006955 cites W2011945962 @default.
• W2112006955 cites W2012463854 @default.
• W2112006955 cites W2013844042 @default.
• W2112006955 cites W2024792037 @default.
• W2112006955 cites W2029154262 @default.
• W2112006955 cites W2035929672 @default.
• W2112006955 cites W2049876198 @default.
• W2112006955 cites W2053192881 @default.
• W2112006955 cites W2057126702 @default.
• W2112006955 cites W2057640190 @default.
• W2112006955 cites W2071537213 @default.
• W2112006955 cites W2073005651 @default.
• W2112006955 cites W2073962586 @default.
• W2112006955 cites W2094452381 @default.
• W2112006955 cites W2096265880 @default.
• W2112006955 cites W2097785181 @default.
• W2112006955 cites W2101433145 @default.
• W2112006955 cites W2102040294 @default.
• W2112006955 cites W2102079051 @default.
• W2112006955 cites W2106773481 @default.
• W2112006955 cites W2110119922 @default.
• W2112006955 cites W2112821834 @default.
• W2112006955 cites W2121587051 @default.
• W2112006955 cites W2127399131 @default.
• W2112006955 cites W2130335269 @default.
• W2112006955 cites W2131587128 @default.
• W2112006955 cites W2136818359 @default.
• W2112006955 cites W2145786802 @default.
• W2112006955 cites W2155602568 @default.
• W2112006955 doi "https://doi.org/10.1186/s13039-015-0109-8" @default.
• W2112006955 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4324423" @default.
• W2112006955 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25674159" @default.
• W2112006955 hasPublicationYear "2015" @default.
• W2112006955 type Work @default.
• W2112006955 sameAs 2112006955 @default.
• W2112006955 citedByCount "19" @default.
• W2112006955 countsByYear W21120069552015 @default.
• W2112006955 countsByYear W21120069552016 @default.
• W2112006955 countsByYear W21120069552017 @default.
• W2112006955 countsByYear W21120069552019 @default.
• W2112006955 countsByYear W21120069552020 @default.
• W2112006955 countsByYear W21120069552021 @default.
• W2112006955 countsByYear W21120069552022 @default.
• W2112006955 countsByYear W21120069552023 @default.
• W2112006955 crossrefType "journal-article" @default.
• W2112006955 hasAuthorship W2112006955A5019249853 @default.
• W2112006955 hasAuthorship W2112006955A5024431722 @default.
• W2112006955 hasAuthorship W2112006955A5042523204 @default.
• W2112006955 hasAuthorship W2112006955A5043017594 @default.
• W2112006955 hasAuthorship W2112006955A5081072784 @default.
• W2112006955 hasAuthorship W2112006955A5083611772 @default.
• W2112006955 hasAuthorship W2112006955A5088956309 @default.
• W2112006955 hasAuthorship W2112006955A5091195161 @default.
• W2112006955 hasBestOaLocation W21120069551 @default.
• W2112006955 hasConcept C104317684 @default.
• W2112006955 hasConcept C120821319 @default.
• W2112006955 hasConcept C141231307 @default.
• W2112006955 hasConcept C150194340 @default.
• W2112006955 hasConcept C190727270 @default.
• W2112006955 hasConcept C201492766 @default.
• W2112006955 hasConcept C2779234561 @default.
• W2112006955 hasConcept C2779245376 @default.
• W2112006955 hasConcept C2780625311 @default.
• W2112006955 hasConcept C47042493 @default.
• W2112006955 hasConcept C54355233 @default.
• W2112006955 hasConcept C7602840 @default.
• W2112006955 hasConcept C86803240 @default.
• W2112006955 hasConceptScore W2112006955C104317684 @default.
• W2112006955 hasConceptScore W2112006955C120821319 @default.
• W2112006955 hasConceptScore W2112006955C141231307 @default.
• W2112006955 hasConceptScore W2112006955C150194340 @default.
• W2112006955 hasConceptScore W2112006955C190727270 @default.
• W2112006955 hasConceptScore W2112006955C201492766 @default.
• W2112006955 hasConceptScore W2112006955C2779234561 @default.
• W2112006955 hasConceptScore W2112006955C2779245376 @default.
• W2112006955 hasConceptScore W2112006955C2780625311 @default.
• W2112006955 hasConceptScore W2112006955C47042493 @default.

• next