Matches in SemOpenAlex for { <https://semopenalex.org/work/W2103846588> ?p ?o ?g. }
- W2103846588 endingPage "1953" @default.
- W2103846588 startingPage "1945" @default.
- W2103846588 abstract "There are numerous genes for which loss-of-function mutations do not produce apparent phenotypes even though statistically significant quantitative changes to biological pathways are observed. To evaluate the biological meaning of small effects is challenging. Bardet–Biedl syndrome (BBS) is a heterogeneous autosomal recessive disorder characterized by obesity, retinopathy, polydactyly, renal malformations, learning disabilities and hypogenitalism, as well as secondary phenotypes including diabetes and hypertension. BBS knockout mice recapitulate most human phenotypes including obesity, retinal degeneration and male infertility. However, BBS knockout mice do not develop polydacyly. Here we showed that the loss of BBS genes in mice result in accumulation of Smoothened and Patched 1 in cilia and have a decreased Shh response. Knockout of Bbs7 combined with a hypomorphic Ift88 allele (orpk as a model for Shh dysfuction) results in embryonic lethality with e12.5 embryos having exencephaly, pericardial edema, cleft palate and abnormal limb development, phenotypes not observed in Bbs7−/− mice. Our results indicate that BBS genes modulate Shh pathway activity and interact genetically with the intraflagellar transport (IFT) pathway to play a role in mammalian development. This study illustrates an effective approach to appreciate the biological significance of a small effect." @default.
- W2103846588 created "2016-06-24" @default.
- W2103846588 creator A5021775683 @default.
- W2103846588 creator A5027109313 @default.
- W2103846588 creator A5048989892 @default.
- W2103846588 creator A5080924048 @default.
- W2103846588 creator A5081449876 @default.
- W2103846588 date "2012-01-06" @default.
- W2103846588 modified "2023-10-16" @default.
- W2103846588 title "BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes" @default.
- W2103846588 cites W1595325053 @default.
- W2103846588 cites W1965235603 @default.
- W2103846588 cites W1971060771 @default.
- W2103846588 cites W1974601240 @default.
- W2103846588 cites W1976421227 @default.
- W2103846588 cites W1976989450 @default.
- W2103846588 cites W1979921735 @default.
- W2103846588 cites W1981691061 @default.
- W2103846588 cites W1985978697 @default.
- W2103846588 cites W1986175901 @default.
- W2103846588 cites W1989958893 @default.
- W2103846588 cites W1990997051 @default.
- W2103846588 cites W1995292541 @default.
- W2103846588 cites W1995600594 @default.
- W2103846588 cites W1995651171 @default.
- W2103846588 cites W1998590298 @default.
- W2103846588 cites W2007764395 @default.
- W2103846588 cites W2018784356 @default.
- W2103846588 cites W2019866708 @default.
- W2103846588 cites W2022475193 @default.
- W2103846588 cites W2029194355 @default.
- W2103846588 cites W2031964961 @default.
- W2103846588 cites W2032792789 @default.
- W2103846588 cites W2035457220 @default.
- W2103846588 cites W2040182956 @default.
- W2103846588 cites W2043384567 @default.
- W2103846588 cites W2049484225 @default.
- W2103846588 cites W2056696934 @default.
- W2103846588 cites W2059098302 @default.
- W2103846588 cites W2062840905 @default.
- W2103846588 cites W2062951860 @default.
- W2103846588 cites W2068040345 @default.
- W2103846588 cites W2069797581 @default.
- W2103846588 cites W2070184849 @default.
- W2103846588 cites W2091684557 @default.
- W2103846588 cites W2092426118 @default.
- W2103846588 cites W2096190491 @default.
- W2103846588 cites W2100378298 @default.
- W2103846588 cites W2102864788 @default.
- W2103846588 cites W2105663489 @default.
- W2103846588 cites W2107555330 @default.
- W2103846588 cites W2114810168 @default.
- W2103846588 cites W2114824375 @default.
- W2103846588 cites W2118640963 @default.
- W2103846588 cites W2123733913 @default.
- W2103846588 cites W2124589223 @default.
- W2103846588 cites W2132749637 @default.
- W2103846588 cites W2132812842 @default.
- W2103846588 cites W2134841035 @default.
- W2103846588 cites W2139886150 @default.
- W2103846588 cites W2142361468 @default.
- W2103846588 cites W2143175476 @default.
- W2103846588 cites W2151851265 @default.
- W2103846588 cites W2155993944 @default.
- W2103846588 cites W2162726549 @default.
- W2103846588 cites W2170087992 @default.
- W2103846588 cites W2887960255 @default.
- W2103846588 doi "https://doi.org/10.1093/hmg/dds004" @default.
- W2103846588 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3315203" @default.
- W2103846588 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22228099" @default.
- W2103846588 hasPublicationYear "2012" @default.
- W2103846588 type Work @default.
- W2103846588 sameAs 2103846588 @default.
- W2103846588 citedByCount "127" @default.
- W2103846588 countsByYear W21038465882012 @default.
- W2103846588 countsByYear W21038465882013 @default.
- W2103846588 countsByYear W21038465882014 @default.
- W2103846588 countsByYear W21038465882015 @default.
- W2103846588 countsByYear W21038465882016 @default.
- W2103846588 countsByYear W21038465882017 @default.
- W2103846588 countsByYear W21038465882018 @default.
- W2103846588 countsByYear W21038465882019 @default.
- W2103846588 countsByYear W21038465882020 @default.
- W2103846588 countsByYear W21038465882021 @default.
- W2103846588 countsByYear W21038465882022 @default.
- W2103846588 countsByYear W21038465882023 @default.
- W2103846588 crossrefType "journal-article" @default.
- W2103846588 hasAuthorship W2103846588A5021775683 @default.
- W2103846588 hasAuthorship W2103846588A5027109313 @default.
- W2103846588 hasAuthorship W2103846588A5048989892 @default.
- W2103846588 hasAuthorship W2103846588A5080924048 @default.
- W2103846588 hasAuthorship W2103846588A5081449876 @default.
- W2103846588 hasBestOaLocation W21038465881 @default.
- W2103846588 hasConcept C100094513 @default.
- W2103846588 hasConcept C104317684 @default.
- W2103846588 hasConcept C127716648 @default.
- W2103846588 hasConcept C143065580 @default.
- W2103846588 hasConcept C172680121 @default.