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TP53, MSH4, and LATS1 Germline Mutations in a Family with Clustering of Nervous System Tumors
Kim, Y.H.,Ohta, T.,Oh, J.E.,Le Calvez-Kelm, F.,McKay, J.,Voegele, C.,Durand, G.,Mittelbronn, M.,Kleihues, P.,Paulus, W.,Ohgaki, H. American Association of Pathologists and Bacteriol 2014 The American journal of pathology Vol.184 No.9
Exome DNA sequencing of blood samples from a Li-Fraumeni family with a TP53 germline mutation (codon 236 deletion) and multiple nervous system tumors revealed additional germline mutations. Missense mutations in the MSH4 DNA repair gene (c.2480T>A; p.I827N) were detected in three patients with gliomas (two anaplastic astrocytomas, two glioblastomas). Two family members without a TP53 germline mutation who developed peripheral schwannomas also carried the MSH4 germline mutation, and in addition, a germline mutation of the LATS1 gene (c.286C>T; p.R96W). LATS1 is a downstream mediator of the NF2, but has not previously been found to be related to schwannomas. We therefore screened the entire coding sequence of the LATS1 gene in 65 sporadic schwannomas, 12 neurofibroma/schwannoma hybrid tumors, and 4 cases of schwannomatosis. We only found a single base deletion at codon 827 (exon 5) in a spinal schwannoma, leading to a stop at codon 835 (c.2480delG; p.*R827Kfs*8). Mutational loss of LATS1 function may thus play a role in some inherited schwannomas, but only exceptionally in sporadic schwannomas. This is the first study reporting a germline MSH4 mutation. Since it was present in all patients, it may have contributed to the subsequent acquisition of TP53 and LATS1 germline mutations.
Color and Brightness Tuning in Heteronuclear Lanthanide Terephthalate Coordination Polymers
Haquin, Victor,Etienne, Mael,Daiguebonne, Carole,Freslon, Sté,phane,Calvez, Guillaume,Bernot, Kevin,Le Pollè,s, Laurent,Ashbrook, Sharon E.,Mitchell, Martin R.,Bü,nzli, Jean‐,Cla WILEY‐VCH Verlag 2013 European journal of inorganic chemistry Vol.2013 No.20
<P><B>Abstract</B></P><P>Heteronuclear lanthanide terephthalate coordination polymers with the general chemical formula [Ln<SUB>2–2<I>x</I></SUB>Ln′<SUB>2<I>x</I></SUB>(bdc)<SUB>3</SUB>(H<SUB>2</SUB>O)<SUB>4</SUB>]<SUB>∞</SUB>, for which bdc<SUP>2–</SUP> symbolizes benzene‐1,4‐dicarboxylate (or terephthalate) and Ln and Ln′ represent trivalent rare earth ions, were synthesized and structurally characterized. Analysis of the Y/Lu compounds by <SUP>89</SUP>Y and <SUP>13</SUP>C solid‐state NMR spectroscopy was carried out, and the results support the hypothesis of randomly distributed lanthanide ions. The spectroscopic and colorimetric properties of this family of compounds were investigated in detail. The resulting data demonstrate that this series of compounds presents highly tunable luminescence properties and clearly indicate that intermetallic deactivation processes play an important role in the emission mechanism. Playing with intermetallic distances allows one to tune the color and the brightness of the lanthanide emission in these coordination polymers.</P>