FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2145108229> ?p ?o ?g. }

• W2145108229 endingPage "e64" @default.
• W2145108229 startingPage "e64" @default.
• W2145108229 abstract "Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P) occurs in wide geographic distribution with an average birth prevalence of 1/700. We used direct sequencing as an approach to study candidate genes for CL/P. We report here the results of sequencing on 20 candidate genes for clefts in 184 cases with CL/P selected with an emphasis on severity and positive family history. Genes were selected based on expression patterns, animal models, and/or role in known human clefting syndromes. For seven genes with identified coding mutations that are potentially etiologic, we performed linkage disequilibrium studies as well in 501 family triads (affected child/mother/father). The recently reported MSX1 P147Q mutation was also studied in an additional 1,098 cleft cases. Selected missense mutations were screened in 1,064 controls from unrelated individuals on the Centre d'Etude du Polymorphisme Humain (CEPH) diversity cell line panel. Our aggregate data suggest that point mutations in these candidate genes are likely to contribute to 6% of isolated clefts, particularly those with more severe phenotypes (bilateral cleft of the lip with cleft palate). Additional cases, possibly due to microdeletions or isodisomy, were also detected and may contribute to clefts as well. Sequence analysis alone suggests that point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated cleft lip with or without cleft palate, and the linkage disequilibrium data support a larger, as yet unspecified, role for variants in or near MSX2, JAG2, and SKI. This study also illustrates the need to test large numbers of controls to distinguish rare polymorphic variants and prioritize functional studies for rare point mutations." @default.
• W2145108229 created "2016-06-24" @default.
• W2145108229 creator A5005250083 @default.
• W2145108229 creator A5008197031 @default.
• W2145108229 creator A5010727856 @default.
• W2145108229 creator A5010802335 @default.
• W2145108229 creator A5012626968 @default.
• W2145108229 creator A5014678980 @default.
• W2145108229 creator A5017050534 @default.
• W2145108229 creator A5019693177 @default.
• W2145108229 creator A5020404225 @default.
• W2145108229 creator A5021774446 @default.
• W2145108229 creator A5023667688 @default.
• W2145108229 creator A5040155820 @default.
• W2145108229 creator A5040691205 @default.
• W2145108229 creator A5050198479 @default.
• W2145108229 creator A5051210087 @default.
• W2145108229 creator A5055650452 @default.
• W2145108229 creator A5057109932 @default.
• W2145108229 creator A5064886913 @default.
• W2145108229 date "2005-12-02" @default.
• W2145108229 modified "2023-10-15" @default.
• W2145108229 title "Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate" @default.
• W2145108229 cites W1489648704 @default.
• W2145108229 cites W1501608538 @default.
• W2145108229 cites W1521483783 @default.
• W2145108229 cites W1545219498 @default.
• W2145108229 cites W1862838614 @default.
• W2145108229 cites W1863442289 @default.
• W2145108229 cites W1965222408 @default.
• W2145108229 cites W1971307410 @default.
• W2145108229 cites W1974853891 @default.
• W2145108229 cites W1976524666 @default.
• W2145108229 cites W1977945634 @default.
• W2145108229 cites W1984968028 @default.
• W2145108229 cites W1986075586 @default.
• W2145108229 cites W1992008273 @default.
• W2145108229 cites W1993469491 @default.
• W2145108229 cites W1994452395 @default.
• W2145108229 cites W1995668112 @default.
• W2145108229 cites W1997267758 @default.
• W2145108229 cites W1999589162 @default.
• W2145108229 cites W2033623800 @default.
• W2145108229 cites W2035757354 @default.
• W2145108229 cites W2038525790 @default.
• W2145108229 cites W2038921819 @default.
• W2145108229 cites W2042760103 @default.
• W2145108229 cites W2051843832 @default.
• W2145108229 cites W2052071194 @default.
• W2145108229 cites W2060823106 @default.
• W2145108229 cites W2061867414 @default.
• W2145108229 cites W2062775722 @default.
• W2145108229 cites W2064050439 @default.
• W2145108229 cites W2066614521 @default.
• W2145108229 cites W2075369433 @default.
• W2145108229 cites W2075508829 @default.
• W2145108229 cites W2078424288 @default.
• W2145108229 cites W2082059743 @default.
• W2145108229 cites W2091232465 @default.
• W2145108229 cites W2094165314 @default.
• W2145108229 cites W2097576041 @default.
• W2145108229 cites W2108489580 @default.
• W2145108229 cites W2109372707 @default.
• W2145108229 cites W2109540605 @default.
• W2145108229 cites W2113198452 @default.
• W2145108229 cites W2116704368 @default.
• W2145108229 cites W2120331418 @default.
• W2145108229 cites W2129682060 @default.
• W2145108229 cites W2131036795 @default.
• W2145108229 cites W2133023372 @default.
• W2145108229 cites W2137231843 @default.
• W2145108229 cites W2144237838 @default.
• W2145108229 cites W2150792687 @default.
• W2145108229 cites W2157304951 @default.
• W2145108229 cites W2159864549 @default.
• W2145108229 cites W2160938004 @default.
• W2145108229 cites W2165724850 @default.
• W2145108229 cites W2165954869 @default.
• W2145108229 cites W2172122920 @default.
• W2145108229 cites W2174589315 @default.
• W2145108229 cites W2315295323 @default.
• W2145108229 cites W4249231890 @default.
• W2145108229 cites W4252950463 @default.
• W2145108229 doi "https://doi.org/10.1371/journal.pgen.0010064" @default.
• W2145108229 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1298935" @default.
• W2145108229 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16327884" @default.
• W2145108229 hasPublicationYear "2005" @default.
• W2145108229 type Work @default.
• W2145108229 sameAs 2145108229 @default.
• W2145108229 citedByCount "221" @default.
• W2145108229 countsByYear W21451082292012 @default.
• W2145108229 countsByYear W21451082292013 @default.
• W2145108229 countsByYear W21451082292014 @default.
• W2145108229 countsByYear W21451082292015 @default.
• W2145108229 countsByYear W21451082292016 @default.
• W2145108229 countsByYear W21451082292017 @default.
• W2145108229 countsByYear W21451082292018 @default.
• W2145108229 countsByYear W21451082292019 @default.

• next