Further, the TNF-α and NF-κB mRNA expressions in the CES-treated pancreas were down-regulated at a dose-dependent manner, while insulin mRNA was elevated.
We found for the first time that the A allele of FGB455 G/A was a risk factor for CES in AF patients, probably by elevating the level of plasma fibrinogen.
The SALSA MLPA P250-B1 DiGeorge Probemix showed duplication of gene dosage in the CES region. aCGH showed a 1.26-Mb duplication at 22q11.1-q11.21 encompassing CECR1-CECR7.
PCR amplification and subsequent cloning and sequencing revealed that these chromatograms contained two distinct sequences, the wild-type p110alpha sequence and a different sequence found on human chromosome 22q11.2, the Cat Eye Syndrome region, which contains a putative pseudogene of PIK3CA.
FISH studies using 4 locus-specific DNA probes in the 22q11.2 region (N25 probe to detect the D22S75 locus within the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) critical region, a clone to detect the Bid locus just distal to the cat eye syndrome (CES) critical region and two clones 77H2 and 109L3 to detect the proximal end of the CES critical region, (CECR2 and CECR7), did not reveal any hybridization signal with the marker chromosome.
Apart from the correlation of about one third of the sSMC cases with a specific clinical picture, i.e. the i(18p), der(22), i(12p) (Pallister Killian syndrome) and inv dup(22) (cat-eye) syndromes, most of the remaining sSMC have not yet been correlated with clinical syndromes.
The second case had a de novo mos 46,X,der(X)t(X;22)(p22.3;q11.2),inv dup(22)(q11.2).ish der(X)(wcpX +,wcp22 +,KAL +, STS -,Xptel -,BCR +),inv dup(22)(wcp22 +,TUPLE ++,BCR -)[85]/45,X,der(X)t(X;22)(p22.3;q11.2),- 22[15].ish der(X)(wcpX +,wcp22 +, KAL +,STS -,Xptel -,BCR +) karyotype.
The second case had a de novo mos 46,X,der(X)t(X;22)(p22.3;q11.2),inv dup(22)(q11.2).ish der(X)(wcpX +,wcp22 +,KAL +, STS -,Xptel -,BCR +),inv dup(22)(wcp22 +,TUPLE ++,BCR -)[85]/45,X,der(X)t(X;22)(p22.3;q11.2),- 22[15].ish der(X)(wcpX +,wcp22 +, KAL +,STS -,Xptel -,BCR +) karyotype.
Fourteen putative genes were identified within or adjacent to the human CES critical region (CESCR), including three known genes (IL-17R, ATP6E, and BID) and nine novel genes, based on EST identity.
Fourteen putative genes were identified within or adjacent to the human CES critical region (CESCR), including three known genes (IL-17R, ATP6E, and BID) and nine novel genes, based on EST identity.
While characterizing the cat eye syndrome (CES) supernumerary chromosome for the presence of lambda immunoglobulin gene region sequences, a lymphoblastoid cell line from one CES patient was identified in which there was selection of cells deleted for some IGLC and IGLV genes.
While characterizing the cat eye syndrome (CES) supernumerary chromosome for the presence of lambda immunoglobulin gene region sequences, a lymphoblastoid cell line from one CES patient was identified in which there was selection of cells deleted for some IGLC and IGLV genes.
While characterizing the cat eye syndrome (CES) supernumerary chromosome for the presence of lambda immunoglobulin gene region sequences, a lymphoblastoid cell line from one CES patient was identified in which there was selection of cells deleted for some IGLC and IGLV genes.
While characterizing the cat eye syndrome (CES) supernumerary chromosome for the presence of lambda immunoglobulin gene region sequences, a lymphoblastoid cell line from one CES patient was identified in which there was selection of cells deleted for some IGLC and IGLV genes.
While characterizing the cat eye syndrome (CES) supernumerary chromosome for the presence of lambda immunoglobulin gene region sequences, a lymphoblastoid cell line from one CES patient was identified in which there was selection of cells deleted for some IGLC and IGLV genes.
While characterizing the cat eye syndrome (CES) supernumerary chromosome for the presence of lambda immunoglobulin gene region sequences, a lymphoblastoid cell line from one CES patient was identified in which there was selection of cells deleted for some IGLC and IGLV genes.
While characterizing the cat eye syndrome (CES) supernumerary chromosome for the presence of lambda immunoglobulin gene region sequences, a lymphoblastoid cell line from one CES patient was identified in which there was selection of cells deleted for some IGLC and IGLV genes.
While characterizing the cat eye syndrome (CES) supernumerary chromosome for the presence of lambda immunoglobulin gene region sequences, a lymphoblastoid cell line from one CES patient was identified in which there was selection of cells deleted for some IGLC and IGLV genes.
While characterizing the cat eye syndrome (CES) supernumerary chromosome for the presence of lambda immunoglobulin gene region sequences, a lymphoblastoid cell line from one CES patient was identified in which there was selection of cells deleted for some IGLC and IGLV genes.
By gene dosage analysis on Southern blots, we showed that the gene for human parvalbumin maps distally to the cat eye syndrome marker D22S9 on chromosome 22q.