Publications:

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Unveiling the Domain-Specific and RAS Isoform-Specific Details of BRAF Regulation.

Biorxiv : The Preprint Server For Biology

Trebino, Tarah T; Markusic, Borna B; Nan, Haihan H; Banerjee, Shrhea S; Wang, Zhihong Z

Publication Date: 2023-04-24

Variant appearance in text: BRAF: Q709R

PubMed Link: 37163002

Variant Present in the following documents:

• Main text
• nihpp-2023.04.24.538112v1.pdf

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Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Kenney-Jung, Daniel L DL; Rogers, Dante J DJ; Kroening, Samuel J SJ; Zatkalik, Abigail L AL; Whitmarsh, Ashley E AE; Roberts, Amy E AE; Zenker, Martin M; Gambardella, Maria Luigia ML; Contaldo, Ilaria I; Leoni, Chiara C; Onesimo, Roberta R; Zampino, Giuseppe G; Tartaglia, Marco M; Battaglia, Domenica I DI; Pierpont, Elizabeth I EI

Publication Date: 2022-11-29

Variant appearance in text: BRAF: Q709R

PubMed Link: 36448195

Variant Present in the following documents:

• AJMG-190-501.pdf

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Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.

Genes

Battaglia, Domenica I DI; Gambardella, Maria Luigia ML; Veltri, Stefania S; Contaldo, Ilaria I; Chillemi, Giovanni G; Veredice, Chiara C; Quintiliani, Michela M; Leoni, Chiara C; Onesimo, Roberta R; Verdolotti, Tommaso T; Radio, Francesca Clementina FC; Martinelli, Diego D; Trivisano, Marina M; Specchio, Nicola N; Dravet, Charlotte C; Tartaglia, Marco M; Zampino, Giuseppe G

Publication Date: 2021-08-26

Variant appearance in text: BRAF: Gln709Arg

PubMed Link: 34573299

Variant Present in the following documents:

• Main text
• genes-12-01316.pdf

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Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.

Orphanet Journal Of Rare Diseases

Leoni, Chiara C; Romeo, Domenico Marco DM; Pelliccioni, Michele M; Di Già, Mariangela M; Onesimo, Roberta R; Giorgio, Valentina V; Flex, Elisabetta E; Tedesco, Marta M; Tartaglia, Marco M; Rigante, Donato D; Valassina, Antonio A; Zampino, Giuseppe G

Publication Date: 2021-01-22

Variant appearance in text: BRAF: Gln709Arg

PubMed Link: 33482860

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1674.pdf

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5-Arylidene(chromenyl-methylene)-thiazolidinediones: Potential New Agents against Mutant Oncoproteins K-Ras, N-Ras and B-Raf in Colorectal Cancer and Melanoma.

Medicina (Kaunas, Lithuania)

Nastasă, Cristina C; Tamaian, Radu R; Oniga, Ovidiu O; Tiperciuc, Brîndușa B

Publication Date: 2019-03-31

Variant appearance in text: BRAF: Q709R

PubMed Link: 30935124

Variant Present in the following documents:

• Main text
• medicina-55-00085.pdf

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: BRAF: Q709R

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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N-(7-Cyano-6-(4-fluoro-3-(2-(3-(trifluoromethyl)phenyl)acetamido)phenoxy)benzo[d]thiazol-2-yl)cyclopropanecarboxamide (TAK632) Promotes Inhibition of BRAF through the Induction of Inhibited Dimers.

Journal Of Medicinal Chemistry

Grasso, Michael M; Estrada, Michelle A MA; Berrios, Kiara N KN; Winkler, Jeffrey D JD; Marmorstein, Ronen R

Publication Date: 2018-06-14

Variant appearance in text: BRAF: Q709R

PubMed Link: 29727562

Variant Present in the following documents:

• Main text

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RAF inhibitors promote RAS-RAF interaction by allosterically disrupting RAF autoinhibition.

Nature Communications

Jin, Ting T; Lavoie, Hugo H; Sahmi, Malha M; David, Maud M; Hilt, Christine C; Hammell, Amy A; Therrien, Marc M

Publication Date: 2017-10-31

Variant appearance in text: BRAF: Q709R

PubMed Link: 29084939

Variant Present in the following documents:

• Main text
• 41467_2017_Article_1274.pdf

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: BRAF: 2126A>G; rs397507486

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.

Genes & Development

Lim, Chae-Seok CS; Kang, Xi X; Mirabella, Vincent V; Zhang, Huaye H; Bu, Qian Q; Araki, Yoichi Y; Hoang, Elizabeth T ET; Wang, Shiqiang S; Shen, Ying Y; Choi, Sukwoo S; Kaang, Bong-Kiun BK; Chang, Qiang Q; Pang, Zhiping P ZP; Huganir, Richard L RL; Zhu, J Julius JJ

Publication Date: 2017-03-15

Variant appearance in text: BRAF: Q709R

PubMed Link: 28404629

Variant Present in the following documents:

• supp_31.6.537_Supplemental_Materials.pdf

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Chemically Linked Vemurafenib Inhibitors Promote an Inactive BRAFV600E Conformation.

Acs Chemical Biology

Grasso, Michael M; Estrada, Michelle A MA; Ventocilla, Christian C; Samanta, Minu M; Maksimoska, Jasna J; Villanueva, Jessie J; Winkler, Jeffrey D JD; Marmorstein, Ronen R

Publication Date: 2016-10-21

Variant appearance in text: BRAF: Q709R

PubMed Link: 27571413

Variant Present in the following documents:

• Main text

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Small molecule stabilization of the KSR inactive state antagonizes oncogenic Ras signalling.

Nature

Dhawan, Neil S NS; Scopton, Alex P AP; Dar, Arvin C AC

Publication Date: 2016-09-01

Variant appearance in text: BRAF: Q709R

PubMed Link: 27556948

Variant Present in the following documents:

• Main text

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Bioinformatics Approach for Prediction of Functional Coding/Noncoding Simple Polymorphisms (SNPs/Indels) in Human BRAF Gene.

Advances In Bioinformatics

Hassan, Mohamed M MM; Omer, Shaza E SE; Khalf-Allah, Rahma M RM; Mustafa, Razaz Y RY; Ali, Isra S IS; Mohamed, Sofia B SB

Publication Date: 2016

Variant appearance in text: rs397507486

PubMed Link: 27478437

Variant Present in the following documents:

• Main text
• ABI2016-2632917.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BRAF: Q709R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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BRAF gene: From human cancers to developmental syndromes.

Saudi Journal Of Biological Sciences

Hussain, Muhammad Ramzan Manwar MR; Baig, Mukhtiar M; Mohamoud, Hussein Sheik Ali HS; Ulhaq, Zaheer Z; Hoessli, Daniel C DC; Khogeer, Ghaidaa Siraj GS; Al-Sayed, Ranem Radwan RR; Al-Aama, Jumana Yousuf JY

Publication Date: 2015-07

Variant appearance in text: BRAF: Q709R

PubMed Link: 26150740

Variant Present in the following documents:

• Main text
• main.pdf

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Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: BRAF: Q709R

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

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Inhibitors that stabilize a closed RAF kinase domain conformation induce dimerization.

Nature Chemical Biology

Lavoie, Hugo H; Thevakumaran, Neroshan N; Gavory, Gwenaëlle G; Li, John J JJ; Padeganeh, Abbas A; Guiral, Sébastien S; Duchaine, Jean J; Mao, Daniel Y L DY; Bouvier, Michel M; Sicheri, Frank F; Therrien, Marc M

Publication Date: 2013-07

Variant appearance in text: BRAF: Q709R

PubMed Link: 23685672

Variant Present in the following documents:

• Main text
• nihms3965.pdf

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Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

Human Mutation

Sarkozy, Anna A; Carta, Claudio C; Moretti, Sonia S; Zampino, Giuseppe G; Digilio, Maria C MC; Pantaleoni, Francesca F; Scioletti, Anna Paola AP; Esposito, Giorgia G; Cordeddu, Viviana V; Lepri, Francesca F; Petrangeli, Valentina V; Dentici, Maria L ML; Mancini, Grazia M S GM; Selicorni, Angelo A; Rossi, Cesare C; Mazzanti, Laura L; Marino, Bruno B; Ferrero, Giovanni B GB; Silengo, Margherita Cirillo MC; Memo, Luigi L; Stanzial, Franco F; Faravelli, Francesca F; Stuppia, Liborio L; Puxeddu, Efisio E; Gelb, Bruce D BD; Dallapiccola, Bruno B; Tartaglia, Marco M

Publication Date: 2009-04

Variant appearance in text: BRAF: 2126A>G; Gln709Arg

PubMed Link: 19206169

Variant Present in the following documents:

• Main text

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Discovery of a selective inhibitor of oncogenic B-Raf kinase with potent antimelanoma activity.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Tsai, James J; Lee, John T JT; Wang, Weiru W; Zhang, Jiazhong J; Cho, Hanna H; Mamo, Shumeye S; Bremer, Ryan R; Gillette, Sam S; Kong, Jun J; Haass, Nikolas K NK; Sproesser, Katrin K; Li, Ling L; Smalley, Keiran S M KS; Fong, Daniel D; Zhu, Yong-Liang YL; Marimuthu, Adhirai A; Nguyen, Hoa H; Lam, Billy B; Liu, Jennifer J; Cheung, Ivana I; Rice, Julie J; Suzuki, Yoshihisa Y; Luu, Catherine C; Settachatgul, Calvin C; Shellooe, Rafe R; Cantwell, John J; Kim, Sung-Hou SH; Schlessinger, Joseph J; Zhang, Kam Y J KY; West, Brian L BL; Powell, Ben B; Habets, Gaston G; Zhang, Chao C; Ibrahim, Prabha N PN; Hirth, Peter P; Artis, Dean R DR; Herlyn, Meenhard M; Bollag, Gideon G

Publication Date: 2008-02-26

Variant appearance in text: BRAF: Q709R

PubMed Link: 18287029

Variant Present in the following documents:

• Main text

View BVdb publication page

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