Matches in SemOpenAlex for { <https://semopenalex.org/work/W2113869585> ?p ?o ?g. }
- W2113869585 endingPage "736" @default.
- W2113869585 startingPage "725" @default.
- W2113869585 abstract "Abstract The basement membrane is important for proper tissue development, stability, and physiology. Major components of the basement membrane include laminins and type IV collagens. The type IV procollagens Col4a1 and Col4a2 form the heterotrimer [α1(IV)]2[α2(IV)], which is ubiquitously expressed in basement membranes during early developmental stages. We present the genetic, molecular, and phenotypic characterization of nine Col4a1 and three Col4a2 missense mutations recovered in random mutagenesis experiments in the mouse. Heterozygous carriers express defects in the eye, the brain, kidney function, vascular stability, and viability. Homozygotes do not survive beyond the second trimester. Ten mutations result in amino acid substitutions at nine conserved Gly sites within the collagenous domain, one mutation is in the carboxy-terminal noncollagenous domain, and one mutation is in the signal peptide sequence and is predicted to disrupt the signal peptide cleavage site. Patients with COL4A2 mutations have still not been identified. We suggest that the spontaneous intraorbital hemorrhages observed in the mouse are a clinically relevant phenotype with a relatively high predictive value to identify carriers of COL4A1 or COL4A2 mutations." @default.
- W2113869585 created "2016-06-24" @default.
- W2113869585 creator A5026597092 @default.
- W2113869585 creator A5031223319 @default.
- W2113869585 creator A5034757490 @default.
- W2113869585 creator A5044938961 @default.
- W2113869585 creator A5049862417 @default.
- W2113869585 creator A5075415433 @default.
- W2113869585 creator A5089830154 @default.
- W2113869585 creator A5089969722 @default.
- W2113869585 date "2007-02-01" @default.
- W2113869585 modified "2023-10-17" @default.
- W2113869585 title "Type IV Procollagen Missense Mutations Associated With Defects of the Eye, Vascular Stability, the Brain, Kidney Function and Embryonic or Postnatal Viability in the Mouse, <i>Mus musculus</i>: An Extension of the <i>Col4a1</i> Allelic Series and the Identification of the First Two <i>Col4a2</i> Mutant Alleles" @default.
- W2113869585 cites W1256021985 @default.
- W2113869585 cites W1572354457 @default.
- W2113869585 cites W1589339185 @default.
- W2113869585 cites W1592876708 @default.
- W2113869585 cites W1772790175 @default.
- W2113869585 cites W1976696904 @default.
- W2113869585 cites W1978473562 @default.
- W2113869585 cites W1979769719 @default.
- W2113869585 cites W1979785281 @default.
- W2113869585 cites W1981679064 @default.
- W2113869585 cites W1981941572 @default.
- W2113869585 cites W1984051756 @default.
- W2113869585 cites W1984466049 @default.
- W2113869585 cites W1984865024 @default.
- W2113869585 cites W1989038991 @default.
- W2113869585 cites W1989736688 @default.
- W2113869585 cites W1998274295 @default.
- W2113869585 cites W1998838129 @default.
- W2113869585 cites W1999035675 @default.
- W2113869585 cites W2002983130 @default.
- W2113869585 cites W2007932023 @default.
- W2113869585 cites W2008373826 @default.
- W2113869585 cites W2011144168 @default.
- W2113869585 cites W2016375553 @default.
- W2113869585 cites W2016815899 @default.
- W2113869585 cites W2018237806 @default.
- W2113869585 cites W2026542895 @default.
- W2113869585 cites W2030874516 @default.
- W2113869585 cites W2032391479 @default.
- W2113869585 cites W2039081391 @default.
- W2113869585 cites W2040801939 @default.
- W2113869585 cites W2042096080 @default.
- W2113869585 cites W2047721737 @default.
- W2113869585 cites W2049077785 @default.
- W2113869585 cites W2049702083 @default.
- W2113869585 cites W2053628477 @default.
- W2113869585 cites W2057662638 @default.
- W2113869585 cites W2057958444 @default.
- W2113869585 cites W2058567144 @default.
- W2113869585 cites W2063580334 @default.
- W2113869585 cites W2064936607 @default.
- W2113869585 cites W2069772961 @default.
- W2113869585 cites W2074744775 @default.
- W2113869585 cites W2079130598 @default.
- W2113869585 cites W2083541145 @default.
- W2113869585 cites W2096609519 @default.
- W2113869585 cites W2097707959 @default.
- W2113869585 cites W2100297351 @default.
- W2113869585 cites W2104916769 @default.
- W2113869585 cites W2119619243 @default.
- W2113869585 cites W2120215029 @default.
- W2113869585 cites W2123872376 @default.
- W2113869585 cites W2128796050 @default.
- W2113869585 cites W2134144117 @default.
- W2113869585 cites W2136112893 @default.
- W2113869585 cites W2143156113 @default.
- W2113869585 cites W2144345918 @default.
- W2113869585 cites W2150682032 @default.
- W2113869585 cites W2156701808 @default.
- W2113869585 cites W2157592619 @default.
- W2113869585 cites W2159783577 @default.
- W2113869585 cites W2161746138 @default.
- W2113869585 cites W2167491097 @default.
- W2113869585 cites W2171709077 @default.
- W2113869585 cites W2399098788 @default.
- W2113869585 cites W2412234420 @default.
- W2113869585 cites W2413062892 @default.
- W2113869585 cites W4211157962 @default.
- W2113869585 doi "https://doi.org/10.1534/genetics.106.064733" @default.
- W2113869585 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1800636" @default.
- W2113869585 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17179069" @default.
- W2113869585 hasPublicationYear "2007" @default.
- W2113869585 type Work @default.
- W2113869585 sameAs 2113869585 @default.
- W2113869585 citedByCount "115" @default.
- W2113869585 countsByYear W21138695852012 @default.
- W2113869585 countsByYear W21138695852013 @default.
- W2113869585 countsByYear W21138695852014 @default.
- W2113869585 countsByYear W21138695852015 @default.
- W2113869585 countsByYear W21138695852016 @default.
- W2113869585 countsByYear W21138695852017 @default.
- W2113869585 countsByYear W21138695852018 @default.
- W2113869585 countsByYear W21138695852019 @default.
- W2113869585 countsByYear W21138695852020 @default.
- W2113869585 countsByYear W21138695852021 @default.