morinlab.bib
... ...
@@ -1,3 +1,22 @@
1
+@article{wangFasFADDDeathDomain2010,
2
+ title = {The {{Fas-FADD}} Death Domain Complex Structure Reveals the Basis of {{DISC}} Assembly and Disease Mutations},
3
+ author = {Wang, Liwei and Yang, Jin Kuk and Kabaleeswaran, Venkataraman and Rice, Amanda J. and Cruz, Anthony C. and Park, Ah Young and Yin, Qian and Damko, Ermelinda and Jang, Se Bok and Raunser, Stefan and Robinson, Carol V. and Siegel, Richard M. and Walz, Thomas and Wu, Hao},
4
+ date = {2010-11},
5
+ journaltitle = {Nature Structural \& Molecular Biology},
6
+ shortjournal = {Nat Struct Mol Biol},
7
+ volume = {17},
8
+ number = {11},
9
+ eprint = {20935634},
10
+ eprinttype = {pmid},
11
+ pages = {1324--1329},
12
+ issn = {1545-9985},
13
+ doi = {10.1038/nsmb.1920},
14
+ abstract = {The death-inducing signaling complex (DISC) formed by the death receptor Fas, the adaptor protein FADD and caspase-8 mediates the extrinsic apoptotic program. Mutations in Fas that disrupt the DISC cause autoimmune lymphoproliferative syndrome (ALPS). Here we show that the Fas-FADD death domain (DD) complex forms an asymmetric oligomeric structure composed of 5-7 Fas DD and 5 FADD DD, whose interfaces harbor ALPS-associated mutations. Structure-based mutations disrupt the Fas-FADD interaction in vitro and in living cells; the severity of a mutation correlates with the number of occurrences of a particular interaction in the structure. The highly oligomeric structure explains the requirement for hexameric or membrane-bound FasL in Fas signaling. It also predicts strong dominant negative effects from Fas mutations, which are confirmed by signaling assays. The structure optimally positions the FADD death effector domain (DED) to interact with the caspase-8 DED for caspase recruitment and higher-order aggregation.},
15
+ langid = {english},
16
+ pmcid = {PMC2988912},
17
+ keywords = {Amino Acid Sequence,Animals,Apoptosis,Autoimmune Lymphoproliferative Syndrome,Caspase 8,Cell Line,fas Receptor,Fas-Associated Death Domain Protein,Humans,Mice,Models Molecular,Molecular Sequence Data,Mutation,Protein Structure Tertiary,Sequence Alignment,Spectrometry Mass Electrospray Ionization,Tandem Mass Spectrometry},
18
+}
19
+
1 20
@article{zmajkovicovaGenotypephenotypeCorrelationsWHIM2022,
2 21
title = {Genotype-Phenotype Correlations in {{WHIM}} Syndrome: A Systematic Characterization of {{CXCR4WHIM}} Variants},
3 22
shorttitle = {Genotype-Phenotype Correlations in {{WHIM}} Syndrome},
... ...
@@ -8119,7 +8138,7 @@ Subject\_term\_id: cancer-genomics;lymphocytes;lymphoid-tissues;oncology}
8119 8138
keywords = {Biomarkers Tumor,DNA Copy Number Variations,Gene Expression Profiling,Genome Human,GTP-Binding Protein alpha Subunits G12-G13,High-Throughput Nucleotide Sequencing,Humans,Lymphoma Large B-Cell Diffuse,Mutation,Oligonucleotide Array Sequence Analysis,Real-Time Polymerase Chain Reaction,Reverse Transcriptase Polymerase Chain Reaction,RNA Messenger,Tumor Cells Cultured}
8120 8139
}
8121 8140
8122
-@article{morinSomaticMutationsAltering2010a,
8141
+@article{morinSomaticMutationsAltering2010,
8123 8142
title = {Somatic Mutations Altering {{EZH2}} ({{Tyr641}}) in Follicular and Diffuse Large {{B-cell}} Lymphomas of Germinal-Center Origin},
8124 8143
author = {Morin, Ryan D. and Johnson, Nathalie A. and Severson, Tesa M. and Mungall, Andrew J. and An, Jianghong and Goya, Rodrigo and Paul, Jessica E. and Boyle, Merrill and Woolcock, Bruce W. and Kuchenbauer, Florian and Yap, Damian and Humphries, R. Keith and Griffith, Obi L. and Shah, Sohrab and Zhu, Henry and Kimbara, Michelle and Shashkin, Pavel and Charlot, Jean F. and Tcherpakov, Marianna and Corbett, Richard and Tam, Angela and Varhol, Richard and Smailus, Duane and Moksa, Michelle and Zhao, Yongjun and Delaney, Allen and Qian, Hong and Birol, Inanc and Schein, Jacqueline and Moore, Richard and Holt, Robert and Horsman, Doug E. and Connors, Joseph M. and Jones, Steven and Aparicio, Samuel and Hirst, Martin and Gascoyne, Randy D. and Marra, Marco A.},
8125 8144
date = {2010-02},