morinlab.bib
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+@article{kannengiesserFunctionalStructuralGenetic2009,
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+ title = {Functional, Structural, and Genetic Evaluation of 20 {{CDKN2A}} Germ Line Mutations Identified in Melanoma-Prone Families or Patients},
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+ author = {Kannengiesser, Caroline and Brookes, Sharon and family=Arroyo, given=Anna Gutierrez, prefix=del, useprefix=true and Pham, Danielle and Bombled, Johny and Barrois, Michel and Mauffret, Olivier and Avril, Marie-Françoise M. and Chompret, Agnès and Lenoir, Gilbert M. and Sarasin, Alain and {French Hereditary Melanoma Study Group} and Peters, Gordon and Bressac-de Paillerets, Brigitte},
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+ date = {2009-04},
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+ journaltitle = {Human Mutation},
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+ shortjournal = {Hum Mutat},
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+ volume = {30},
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+ number = {4},
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+ eprint = {19260062},
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+ eprinttype = {pmid},
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+ pages = {564--574},
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+ issn = {1098-1004},
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+ doi = {10.1002/humu.20845},
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+ abstract = {Germline mutations of the CDKN2A gene are found in melanoma-prone families and individuals with multiple sporadic melanomas. The encoded protein, p16(INK4A), comprises four ankyrin-type repeats, and the mutations, most of which are missense and occur throughout the entire coding region, can disrupt the conformation of these structural motifs as well as the association of p16(INK4a) with its physiological targets, the cyclin-dependent kinases (CDKs) CDK4 and CDK6. Assessing pathogenicity of nonsynonymous mutations is critical to evaluate melanoma risk in carriers. In the current study, we investigate 20 CDKN2A germline mutations whose effects on p16(INK4A) structure and function have not been previously documented (Thr18\_Ala19dup, Gly23Asp, Arg24Gln, Gly35Ala, Gly35Val, Ala57Val, Ala60Val, Ala60Arg, Leu65dup, Gly67Arg, Gly67\_Asn71del, Glu69Gly, Asp74Tyr, Thr77Pro, Arg80Pro, Pro81Thr, Arg87Trp, Leu97Arg, Arg99Pro, and [Leu113Leu;Pro114Ser]). By considering genetic information, the predicted impact of each variant on the protein structure, its ability to interact with CDK4 and impede cell proliferation in experimental settings, we conclude that 18 of the 20 CDKN2A variants can be classed as loss of function mutations, whereas the results for two remain ambiguous. Discriminating between mutant and neutral variants of p16(INK4A) not only adds to our understanding of the functionally critical residues in the protein but provides information that can be used for melanoma risk prediction.},
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+ langid = {english},
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+ keywords = {Cell Line,Cell Proliferation,Cyclin-Dependent Kinase 4,Cyclin-Dependent Kinase Inhibitor p16,Family Health,Genetic Testing,Germ-Line Mutation,Humans,Melanoma,Models Molecular,Mutation Missense,Protein Binding,Protein Structure Tertiary},
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+}
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+
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@article{huFollicularLymphomaassociatedBTK2021,
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title = {Follicular {{Lymphoma-associated BTK Mutations}} Are {{Inactivating Resulting}} in {{Augmented AKT Activation}}},
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author = {Hu, Nan and Wang, Fangyang and Sun, Tianyu and Xu, Zhengfan and Zhang, Jing and Bernard, Denzil and Xu, Shilin and Wang, Shaomeng and Kaminski, Mark and Devata, Suma and Phillips, Tycel and Malek, Sami N.},