Pesquisa | Secretaria de Estado da Saúde

1.

Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes.

Dentro, Stefan C; Leshchiner, Ignaty; Haase, Kerstin; Tarabichi, Maxime; Wintersinger, Jeff; Deshwar, Amit G; Yu, Kaixian; Rubanova, Yulia; Macintyre, Geoff; Demeulemeester, Jonas; Vázquez-García, Ignacio; Kleinheinz, Kortine; Livitz, Dimitri G; Malikic, Salem; Donmez, Nilgun; Sengupta, Subhajit; Anur, Pavana; Jolly, Clemency; Cmero, Marek; Rosebrock, Daniel; Schumacher, Steven E; Fan, Yu; Fittall, Matthew; Drews, Ruben M; Yao, Xiaotong; Watkins, Thomas B K; Lee, Juhee; Schlesner, Matthias; Zhu, Hongtu; Adams, David J; McGranahan, Nicholas; Swanton, Charles; Getz, Gad; Boutros, Paul C; Imielinski, Marcin; Beroukhim, Rameen; Sahinalp, S Cenk; Ji, Yuan; Peifer, Martin; Martincorena, Inigo; Markowetz, Florian; Mustonen, Ville; Yuan, Ke; Gerstung, Moritz; Spellman, Paul T; Wang, Wenyi; Morris, Quaid D; Wedge, David C; Van Loo, Peter.

Cell ; 184(8): 2239-2254.e39, 2021 04 15.

Artigo Inglês | MEDLINE | ID: mdl-33831375

2.

Proteogenomic Characterization of Endometrial Carcinoma.

Dou, Yongchao; Kawaler, Emily A; Cui Zhou, Daniel; Gritsenko, Marina A; Huang, Chen; Blumenberg, Lili; Karpova, Alla; Petyuk, Vladislav A; Savage, Sara R; Satpathy, Shankha; Liu, Wenke; Wu, Yige; Tsai, Chia-Feng; Wen, Bo; Li, Zhi; Cao, Song; Moon, Jamie; Shi, Zhiao; Cornwell, MacIntosh; Wyczalkowski, Matthew A; Chu, Rosalie K; Vasaikar, Suhas; Zhou, Hua; Gao, Qingsong; Moore, Ronald J; Li, Kai; Sethuraman, Sunantha; Monroe, Matthew E; Zhao, Rui; Heiman, David; Krug, Karsten; Clauser, Karl; Kothadia, Ramani; Maruvka, Yosef; Pico, Alexander R; Oliphant, Amanda E; Hoskins, Emily L; Pugh, Samuel L; Beecroft, Sean J I; Adams, David W; Jarman, Jonathan C; Kong, Andy; Chang, Hui-Yin; Reva, Boris; Liao, Yuxing; Rykunov, Dmitry; Colaprico, Antonio; Chen, Xi Steven; Czekanski, Andrzej; Jedryka, Marcin.

Cell ; 180(4): 729-748.e26, 2020 02 20.

Artigo Inglês | MEDLINE | ID: mdl-32059776

3.

Identification, Characterization, and Heritability of Murine Metastable Epialleles: Implications for Non-genetic Inheritance.

Kazachenka, Anastasiya; Bertozzi, Tessa M; Sjoberg-Herrera, Marcela K; Walker, Nic; Gardner, Joseph; Gunning, Richard; Pahita, Elena; Adams, Sarah; Adams, David; Ferguson-Smith, Anne C.

Cell ; 175(5): 1259-1271.e13, 2018 11 15.

Artigo Inglês | MEDLINE | ID: mdl-30454646

4.

The BRAF pseudogene functions as a competitive endogenous RNA and induces lymphoma in vivo.

Karreth, Florian A; Reschke, Markus; Ruocco, Anna; Ng, Christopher; Chapuy, Bjoern; Léopold, Valentine; Sjoberg, Marcela; Keane, Thomas M; Verma, Akanksha; Ala, Ugo; Tay, Yvonne; Wu, David; Seitzer, Nina; Velasco-Herrera, Martin Del Castillo; Bothmer, Anne; Fung, Jacqueline; Langellotto, Fernanda; Rodig, Scott J; Elemento, Olivier; Shipp, Margaret A; Adams, David J; Chiarle, Roberto; Pandolfi, Pier Paolo.

Cell ; 161(2): 319-32, 2015 Apr 09.

Artigo Inglês | MEDLINE | ID: mdl-25843629

5.

Autonomous healing of fatigue cracks via cold welding.

Barr, Christopher M; Duong, Ta; Bufford, Daniel C; Milne, Zachary; Molkeri, Abhilash; Heckman, Nathan M; Adams, David P; Srivastava, Ankit; Hattar, Khalid; Demkowicz, Michael J; Boyce, Brad L.

Nature ; 620(7974): 552-556, 2023 Aug.

Artigo Inglês | MEDLINE | ID: mdl-37468631

6.

Identification, Characterization, and Heritability of Murine Metastable Epialleles: Implications for Non-genetic Inheritance.

Kazachenka, Anastasiya; Bertozzi, Tessa M; Sjoberg-Herrera, Marcela K; Walker, Nic; Gardner, Joseph; Gunning, Richard; Pahita, Elena; Adams, Sarah; Adams, David; Ferguson-Smith, Anne C.

Cell ; 175(6): 1717, 2018 Nov 29.

Artigo Inglês | MEDLINE | ID: mdl-30500541

7.

Cooperativity and rapid evolution of cobound transcription factors in closely related mammals.

Stefflova, Klara; Thybert, David; Wilson, Michael D; Streeter, Ian; Aleksic, Jelena; Karagianni, Panagiota; Brazma, Alvis; Adams, David J; Talianidis, Iannis; Marioni, John C; Flicek, Paul; Odom, Duncan T.

Cell ; 154(3): 530-40, 2013 Aug 01.

Artigo Inglês | MEDLINE | ID: mdl-23911320

8.

Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.

White, Jacqueline K; Gerdin, Anna-Karin; Karp, Natasha A; Ryder, Ed; Buljan, Marija; Bussell, James N; Salisbury, Jennifer; Clare, Simon; Ingham, Neil J; Podrini, Christine; Houghton, Richard; Estabel, Jeanne; Bottomley, Joanna R; Melvin, David G; Sunter, David; Adams, Niels C; Tannahill, David; Logan, Darren W; Macarthur, Daniel G; Flint, Jonathan; Mahajan, Vinit B; Tsang, Stephen H; Smyth, Ian; Watt, Fiona M; Skarnes, William C; Dougan, Gordon; Adams, David J; Ramirez-Solis, Ramiro; Bradley, Allan; Steel, Karen P.

Cell ; 154(2): 452-64, 2013 Jul 18.

Artigo Inglês | MEDLINE | ID: mdl-23870131

9.

Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat.

Atanur, Santosh S; Diaz, Ana Garcia; Maratou, Klio; Sarkis, Allison; Rotival, Maxime; Game, Laurence; Tschannen, Michael R; Kaisaki, Pamela J; Otto, Georg W; Ma, Man Chun John; Keane, Thomas M; Hummel, Oliver; Saar, Kathrin; Chen, Wei; Guryev, Victor; Gopalakrishnan, Kathirvel; Garrett, Michael R; Joe, Bina; Citterio, Lorena; Bianchi, Giuseppe; McBride, Martin; Dominiczak, Anna; Adams, David J; Serikawa, Tadao; Flicek, Paul; Cuppen, Edwin; Hubner, Norbert; Petretto, Enrico; Gauguier, Dominique; Kwitek, Anne; Jacob, Howard; Aitman, Timothy J.

Cell ; 154(3): 691-703, 2013 Aug 01.

Artigo Inglês | MEDLINE | ID: mdl-23890820

10.

A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway.

Praetorius, Christian; Grill, Christine; Stacey, Simon N; Metcalf, Alexander M; Gorkin, David U; Robinson, Kathleen C; Van Otterloo, Eric; Kim, Reuben S Q; Bergsteinsdottir, Kristin; Ogmundsdottir, Margret H; Magnusdottir, Erna; Mishra, Pravin J; Davis, Sean R; Guo, Theresa; Zaidi, M Raza; Helgason, Agnar S; Sigurdsson, Martin I; Meltzer, Paul S; Merlino, Glenn; Petit, Valerie; Larue, Lionel; Loftus, Stacie K; Adams, David R; Sobhiafshar, Ulduz; Emre, N C Tolga; Pavan, William J; Cornell, Robert; Smith, Aaron G; McCallion, Andrew S; Fisher, David E; Stefansson, Kari; Sturm, Richard A; Steingrimsson, Eirikur.

Cell ; 155(5): 1022-33, 2013 Nov 21.

Artigo Inglês | MEDLINE | ID: mdl-24267888

11.

Two defence systems eliminate plasmids from seventh pandemic Vibrio cholerae.

Jaskólska, Milena; Adams, David W; Blokesch, Melanie.

Nature ; 604(7905): 323-329, 2022 04.

Artigo Inglês | MEDLINE | ID: mdl-35388218

12.

Identification of bacteria-derived HLA-bound peptides in melanoma.

Kalaora, Shelly; Nagler, Adi; Nejman, Deborah; Alon, Michal; Barbolin, Chaya; Barnea, Eilon; Ketelaars, Steven L C; Cheng, Kuoyuan; Vervier, Kevin; Shental, Noam; Bussi, Yuval; Rotkopf, Ron; Levy, Ronen; Benedek, Gil; Trabish, Sophie; Dadosh, Tali; Levin-Zaidman, Smadar; Geller, Leore T; Wang, Kun; Greenberg, Polina; Yagel, Gal; Peri, Aviyah; Fuks, Garold; Bhardwaj, Neerupma; Reuben, Alexandre; Hermida, Leandro; Johnson, Sarah B; Galloway-Peña, Jessica R; Shropshire, William C; Bernatchez, Chantale; Haymaker, Cara; Arora, Reetakshi; Roitman, Lior; Eilam, Raya; Weinberger, Adina; Lotan-Pompan, Maya; Lotem, Michal; Admon, Arie; Levin, Yishai; Lawley, Trevor D; Adams, David J; Levesque, Mitchell P; Besser, Michal J; Schachter, Jacob; Golani, Ofra; Segal, Eran; Geva-Zatorsky, Naama; Ruppin, Eytan; Kvistborg, Pia; Peterson, Scott N.

Nature ; 592(7852): 138-143, 2021 04.

Artigo Inglês | MEDLINE | ID: mdl-33731925

13.

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability.

Dutta, Debdeep; Kanca, Oguz; Shridharan, Rishi V; Marcogliese, Paul C; Steger, Benjamin; Morimoto, Marie; Frost, F Graeme; Macnamara, Ellen; Wangler, Michael F; Yamamoto, Shinya; Jenny, Andreas; Adams, David; Malicdan, May C; Bellen, Hugo J.

Proc Natl Acad Sci U S A ; 121(9): e2322582121, 2024 Feb 27.

Artigo Inglês | MEDLINE | ID: mdl-38381787

14.

Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.

Loftus, Stacie K; Gillis, Meredith F; Lundh, Linnea; Baxter, Laura L; Wedel, Julia C; Watkins-Chow, Dawn E; Donovan, Frank X; Sergeev, Yuri V; Oetting, William S; Pavan, William J; Adams, David R.

Am J Hum Genet ; 110(7): 1123-1137, 2023 07 06.

Artigo Inglês | MEDLINE | ID: mdl-37327787

15.

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

Frost, F Graeme; Morimoto, Marie; Sharma, Prashant; Ruaud, Lyse; Belnap, Newell; Calame, Daniel G; Uchiyama, Yuri; Matsumoto, Naomichi; Oud, Machteld M; Ferreira, Elise A; Narayanan, Vinodh; Rangasamy, Sampath; Huentelman, Matt; Emrick, Lisa T; Sato-Shirai, Ikuko; Kumada, Satoko; Wolf, Nicole I; Steinbach, Peter J; Huang, Yan; Pusey, Barbara N; Passemard, Sandrine; Levy, Jonathan; Drunat, Séverine; Vincent, Marie; Guet, Agnès; Agolini, Emanuele; Novelli, Antonio; Digilio, Maria Cristina; Rosenfeld, Jill A; Murphy, Jennifer L; Lupski, James R; Vezina, Gilbert; Macnamara, Ellen F; Adams, David R; Acosta, Maria T; Tifft, Cynthia J; Gahl, William A; Malicdan, May Christine V.

Am J Hum Genet ; 110(4): 663-680, 2023 04 06.

Artigo Inglês | MEDLINE | ID: mdl-36965478

16.

Transcatheter Repair for Patients with Tricuspid Regurgitation.

Sorajja, Paul; Whisenant, Brian; Hamid, Nadira; Naik, Hursh; Makkar, Raj; Tadros, Peter; Price, Matthew J; Singh, Gagan; Fam, Neil; Kar, Saibal; Schwartz, Jonathan G; Mehta, Shamir; Bae, Richard; Sekaran, Nishant; Warner, Travis; Makar, Moody; Zorn, George; Spinner, Erin M; Trusty, Phillip M; Benza, Raymond; Jorde, Ulrich; McCarthy, Patrick; Thourani, Vinod; Tang, Gilbert H L; Hahn, Rebecca T; Adams, David H.

N Engl J Med ; 388(20): 1833-1842, 2023 May 18.

Artigo Inglês | MEDLINE | ID: mdl-36876753

17.

A previously unrecognized superfamily of macro-conotoxins includes an inhibitor of the sensory neuron calcium channel Cav2.3.

Hackney, Celeste M; Flórez Salcedo, Paula; Mueller, Emilie; Koch, Thomas Lund; Kjelgaard, Lau D; Watkins, Maren; Zachariassen, Linda G; Tuelung, Pernille Sønderby; McArthur, Jeffrey R; Adams, David J; Kristensen, Anders S; Olivera, Baldomero; Finol-Urdaneta, Rocio K; Safavi-Hemami, Helena; Morth, Jens Preben; Ellgaard, Lars.

PLoS Biol ; 21(8): e3002217, 2023 08.

Artigo Inglês | MEDLINE | ID: mdl-37535677

18.

In vivo identification of tumor- suppressive PTEN ceRNAs in an oncogenic BRAF-induced mouse model of melanoma.

Karreth, Florian A; Tay, Yvonne; Perna, Daniele; Ala, Ugo; Tan, Shen Mynn; Rust, Alistair G; DeNicola, Gina; Webster, Kaitlyn A; Weiss, Dror; Perez-Mancera, Pedro A; Krauthammer, Michael; Halaban, Ruth; Provero, Paolo; Adams, David J; Tuveson, David A; Pandolfi, Pier Paolo.

Cell ; 147(2): 382-95, 2011 Oct 14.

Artigo Inglês | MEDLINE | ID: mdl-22000016

19.

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.

Fazal, Sarah; Danzi, Matt C; van Kuilenburg, André B P; Reich, Selina; Traschütz, Andreas; Bender, Benjamin; Leen, René; Toro, Camilo; Usdin, Karen; Hayward, Bruce; Adams, David R; van Karnebeek, Clara D M; Ferreira, Carlos R; D'Sousa, Precilla; Network, Undiagnosed Diseases; Tekin, Mustafa; Züchner, Stephan; Synofzik, Matthis.

Hum Mol Genet ; 32(1): 46-54, 2023 01 01.

Artigo Inglês | MEDLINE | ID: mdl-35913761

20.

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

Palles, Claire; West, Hannah D; Chew, Edward; Galavotti, Sara; Flensburg, Christoffer; Grolleman, Judith E; Jansen, Erik A M; Curley, Helen; Chegwidden, Laura; Arbe-Barnes, Edward H; Lander, Nicola; Truscott, Rebekah; Pagan, Judith; Bajel, Ashish; Sherwood, Kitty; Martin, Lynn; Thomas, Huw; Georgiou, Demetra; Fostira, Florentia; Goldberg, Yael; Adams, David J; van der Biezen, Simone A M; Christie, Michael; Clendenning, Mark; Thomas, Laura E; Deltas, Constantinos; Dimovski, Aleksandar J; Dymerska, Dagmara; Lubinski, Jan; Mahmood, Khalid; van der Post, Rachel S; Sanders, Mathijs; Weitz, Jürgen; Taylor, Jenny C; Turnbull, Clare; Vreede, Lilian; van Wezel, Tom; Whalley, Celina; Arnedo-Pac, Claudia; Caravagna, Giulio; Cross, William; Chubb, Daniel; Frangou, Anna; Gruber, Andreas J; Kinnersley, Ben; Noyvert, Boris; Church, David; Graham, Trevor; Houlston, Richard; Lopez-Bigas, Nuria.

Am J Hum Genet ; 109(5): 953-960, 2022 05 05.

Artigo Inglês | MEDLINE | ID: mdl-35460607

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Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes.

Proteogenomic Characterization of Endometrial Carcinoma.

Identification, Characterization, and Heritability of Murine Metastable Epialleles: Implications for Non-genetic Inheritance.

The BRAF pseudogene functions as a competitive endogenous RNA and induces lymphoma in vivo.

Autonomous healing of fatigue cracks via cold welding.

Identification, Characterization, and Heritability of Murine Metastable Epialleles: Implications for Non-genetic Inheritance.

Cooperativity and rapid evolution of cobound transcription factors in closely related mammals.

Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.

Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat.

A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway.

Two defence systems eliminate plasmids from seventh pandemic Vibrio cholerae.

Identification of bacteria-derived HLA-bound peptides in melanoma.

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability.

Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

Transcatheter Repair for Patients with Tricuspid Regurgitation.

A previously unrecognized superfamily of macro-conotoxins includes an inhibitor of the sensory neuron calcium channel Cav2.3.

In vivo identification of tumor- suppressive PTEN ceRNAs in an oncogenic BRAF-induced mouse model of melanoma.

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.