Matches in SemOpenAlex for { <https://semopenalex.org/work/W2891068611> ?p ?o ?g. }
- W2891068611 abstract "In this study, we report a unique dominantly inherited disorganised supernumerary cusp and single root phenotype presented by 11 affected individuals belonging to 5 north-eastern Thai families. Using whole exome sequencing (WES) we identified a common single missense mutation that segregates with the phenotype in exon 6 of CACNA1S (Cav1.1) (NM_000069.2: c.[865A>G];[=] p.[Ile289Val];[=]), the Calcium Channel, Voltage-Dependent, L Type, Alpha-1s Subunit, OMIM 114208), affecting a highly conserved amino-acid isoleucine residue within the pore forming subdomain of CACNA1S protein. This is a strong genetic evidence that a voltage-dependent calcium ion channel is likely to play a role in influencing tooth morphogenesis and patterning." @default.
- W2891068611 created "2018-09-27" @default.
- W2891068611 creator A5008306829 @default.
- W2891068611 creator A5025720771 @default.
- W2891068611 creator A5042227654 @default.
- W2891068611 creator A5049107218 @default.
- W2891068611 creator A5053585995 @default.
- W2891068611 creator A5054877055 @default.
- W2891068611 creator A5055215537 @default.
- W2891068611 creator A5058070631 @default.
- W2891068611 creator A5065730986 @default.
- W2891068611 creator A5066070904 @default.
- W2891068611 creator A5072279214 @default.
- W2891068611 creator A5072408206 @default.
- W2891068611 creator A5075630822 @default.
- W2891068611 date "2018-09-26" @default.
- W2891068611 modified "2023-09-24" @default.
- W2891068611 title "Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning" @default.
- W2891068611 cites W1020034678 @default.
- W2891068611 cites W144366648 @default.
- W2891068611 cites W1918598244 @default.
- W2891068611 cites W1970413157 @default.
- W2891068611 cites W1972418047 @default.
- W2891068611 cites W1978299298 @default.
- W2891068611 cites W1978547646 @default.
- W2891068611 cites W1980592891 @default.
- W2891068611 cites W1985195992 @default.
- W2891068611 cites W2001730691 @default.
- W2891068611 cites W2003510493 @default.
- W2891068611 cites W2005421856 @default.
- W2891068611 cites W2018092590 @default.
- W2891068611 cites W2022895946 @default.
- W2891068611 cites W2023912300 @default.
- W2891068611 cites W2023962370 @default.
- W2891068611 cites W2023985722 @default.
- W2891068611 cites W2027803552 @default.
- W2891068611 cites W2033082729 @default.
- W2891068611 cites W2034691490 @default.
- W2891068611 cites W2037799645 @default.
- W2891068611 cites W2045903907 @default.
- W2891068611 cites W2051117666 @default.
- W2891068611 cites W2054471366 @default.
- W2891068611 cites W2054611625 @default.
- W2891068611 cites W2056512058 @default.
- W2891068611 cites W2056967728 @default.
- W2891068611 cites W2059145105 @default.
- W2891068611 cites W2070398050 @default.
- W2891068611 cites W2074582997 @default.
- W2891068611 cites W2078217942 @default.
- W2891068611 cites W2085412853 @default.
- W2891068611 cites W2097360336 @default.
- W2891068611 cites W2099746995 @default.
- W2891068611 cites W2100755451 @default.
- W2891068611 cites W2102213696 @default.
- W2891068611 cites W2102508854 @default.
- W2891068611 cites W2103266668 @default.
- W2891068611 cites W2106173430 @default.
- W2891068611 cites W2114369447 @default.
- W2891068611 cites W2115149771 @default.
- W2891068611 cites W2122732537 @default.
- W2891068611 cites W2123350196 @default.
- W2891068611 cites W2132297623 @default.
- W2891068611 cites W2138726317 @default.
- W2891068611 cites W2138773108 @default.
- W2891068611 cites W2141885858 @default.
- W2891068611 cites W2155663391 @default.
- W2891068611 cites W2158116492 @default.
- W2891068611 cites W2158989229 @default.
- W2891068611 cites W2160742142 @default.
- W2891068611 cites W2161578373 @default.
- W2891068611 cites W2162423230 @default.
- W2891068611 cites W2180396440 @default.
- W2891068611 cites W2256016639 @default.
- W2891068611 cites W2272626548 @default.
- W2891068611 cites W2274889994 @default.
- W2891068611 cites W2290058248 @default.
- W2891068611 cites W2328862084 @default.
- W2891068611 cites W2422053735 @default.
- W2891068611 cites W2518748739 @default.
- W2891068611 cites W2557981253 @default.
- W2891068611 cites W2566502421 @default.
- W2891068611 cites W2724386338 @default.
- W2891068611 cites W2744780200 @default.
- W2891068611 cites W2766939625 @default.
- W2891068611 cites W2792353143 @default.
- W2891068611 cites W2792992676 @default.
- W2891068611 cites W2796709271 @default.
- W2891068611 cites W4211027566 @default.
- W2891068611 cites W4247292500 @default.
- W2891068611 cites W4300579310 @default.
- W2891068611 cites W4320301318 @default.
- W2891068611 doi "https://doi.org/10.3389/fphys.2018.01329" @default.
- W2891068611 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6170876" @default.
- W2891068611 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30319441" @default.
- W2891068611 hasPublicationYear "2018" @default.
- W2891068611 type Work @default.
- W2891068611 sameAs 2891068611 @default.
- W2891068611 citedByCount "7" @default.
- W2891068611 countsByYear W28910686112019 @default.
- W2891068611 countsByYear W28910686112020 @default.