Publications:

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In Silico Evaluation of the Thr58-Associated Conserved Water with KRAS Switch-II Pocket Binders.

Journal Of Chemical Information And Modeling

Leini, Renne R; Pantsar, Tatu T

Publication Date: 2023-02-28

Variant appearance in text: CS: G12A

PubMed Link: 36854010

Variant Present in the following documents:

• ci2c01479_si_002.xlsx, sheet 1

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Increased osteoclastogenesis contributes to bone loss in the Costello syndrome Hras G12V mouse model.

Frontiers In Cell And Developmental Biology

Nandi, Sayantan S; Chennappan, Saravanakkumar S; Andrasch, Yannik Y; Fidan, Miray M; Engler, Melanie M; Ahmad, Mubashir M; Tuckermann, Jan P JP; Zenker, Martin M; Cirstea, Ion Cristian IC

Publication Date: 2022

Variant appearance in text: CS: G12A

PubMed Link: 36330334

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• Main text
• fcell-10-1000575.pdf

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A Phase I-II multicenter trial with Avelumab plus autologous dendritic cell vaccine in pre-treated mismatch repair-proficient (MSS) metastatic colorectal cancer patients; GEMCAD 1602 study.

Cancer Immunology, Immunotherapy : Cii

Español-Rego, Marta M; Fernández-Martos, Carlos C; Elez, Elena E; Foguet, Carles C; Pedrosa, Leire L; Rodríguez, Nuria N; Ruiz-Casado, Ana A; Pineda, Estela E; Cid, Joan J; Cabezón, Raquel R; Oliveres, Helena H; Lozano, Miquel M; Ginés, Angels A; García-Criado, Angeles A; Ayuso, Juan Ramon JR; Pagés, Mario M; Cuatrecasas, Miriam M; Torres, Ferràn F; Thomson, Timothy T; Cascante, Marta M; Benítez-Ribas, Daniel D; Maurel, Joan J

Publication Date: 2022-09-09

Variant appearance in text: CS: G12A

PubMed Link: 36083313

Variant Present in the following documents:

• 262_2022_Article_3283.pdf

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Multidisciplinary Management of Costello Syndrome: Current Perspectives.

Journal Of Multidisciplinary Healthcare

Leoni, Chiara C; Viscogliosi, Germana G; Tartaglia, Marco M; Aoki, Yoko Y; Zampino, Giuseppe G

Publication Date: 2022

Variant appearance in text: CS: Gly12Ala

PubMed Link: 35677617

Variant Present in the following documents:

• Main text
• jmdh-15-1277.pdf

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Essential roles of exosome and circRNA_101093 on ferroptosis desensitization in lung adenocarcinoma.

Cancer Communications (London, England)

Zhang, Xiao X; Xu, Yunhua Y; Ma, Lifang L; Yu, Keke K; Niu, Yongjie Y; Xu, Xin X; Shi, Yi Y; Guo, Susu S; Xue, Xiangfei X; Wang, Yikun Y; Qiu, Shiyu S; Cui, Jiangtao J; Wang, Hong H; Tian, Xiaoting X; Miao, Yayou Y; Meng, Fanyu F; Qiao, Yongxia Y; Yu, Yongchun Y; Wang, Jiayi J

Publication Date: 2022-04

Variant appearance in text: CS: G12A

PubMed Link: 35184419

Variant Present in the following documents:

• CAC2-42-287.pdf

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Intranasal Delivery of a Methyllanthionine-Stabilized Galanin Receptor-2-Selective Agonist Reduces Acute Food Intake.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Kuipers, Anneke A; Balaskó, Márta M; Pétervári, Erika E; Koller, Andreas A; Brunner, Susanne M SM; Moll, Gert N GN; Kofler, Barbara B

Publication Date: 2021-10

Variant appearance in text: CS: G12A

PubMed Link: 34859381

Variant Present in the following documents:

• 13311_2021_Article_1155.pdf

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Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review.

Molecular Genetics & Genomic Medicine

Qian, Wen W; Zhang, Meijie M; Huang, Hequn H; Chen, Yihe Y; Park, Gajin G; Zeng, Ni N; Li, Yueyue Y; Lu, Qian Q; Luo, Dan D

Publication Date: 2021-06

Variant appearance in text: CS: G12A

PubMed Link: 33932139

Variant Present in the following documents:

• Main text

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Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.

Molecular Syndromology

Vuralli, Dogus D; Kosukcu, Can C; Taskiran, Ekim E; Simsek-Kiper, Pelin Ozlem PO; Utine, Gulen Eda GE; Boduroglu, Koray K; Alikasifoglu, Ayfer A; Alikasifoglu, Mehmet M

Publication Date: 2020-11

Variant appearance in text: CS: 35G>C; Gly12Ala

PubMed Link: 33224014

Variant Present in the following documents:

• Main text

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Recombinant GH treatment in a case of Costello syndrome with a 5-year follow-up.

Clinical Pediatric Endocrinology : Case Reports And Clinical Investigations : Official Journal Of The Japanese Society For Pediatric Endocrinology

Kizilcan Cetin, Sirmen S; Siklar, Zeynep Z; Ozsu, Elif E; Aycan, Zehra Z; Uyanik, Rukiye R; Bilici, Meliha E ME; Ceran, Aysegul A; Berberoglu, Merih M

Publication Date: 2020

Variant appearance in text: CS: G12A

PubMed Link: 33088020

Variant Present in the following documents:

• Main text
• cpe-29-195.pdf

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Rapid Generation of Somatic Mouse Mosaics with Locus-Specific, Stably Integrated Transgenic Elements.

Cell

Kim, Gi Bum GB; Rincon Fernandez Pacheco, David D; Saxon, David D; Yang, Amy A; Sabet, Sara S; Dutra-Clarke, Marina M; Levy, Rachelle R; Watkins, Ashley A; Park, Hannah H; Abbasi Akhtar, Aslam A; Linesch, Paul W PW; Kobritz, Naomi N; Chandra, Swasty S SS; Grausam, Katie K; Ayala-Sarmiento, Alberto A; Molina, Jessica J; Sedivakova, Kristyna K; Hoang, Kendy K; Tsyporin, Jeremiah J; Gareau, Daniel S DS; Filbin, Mariella G MG; Bannykh, Serguei S; Santiskulvong, Chintda C; Wang, Yizhou Y; Tang, Jie J; Suva, Mario L ML; Chen, Bin B; Danielpour, Moise M; Breunig, Joshua J JJ

Publication Date: 2019-09-19

Variant appearance in text: CS: G12A

PubMed Link: 31539496

Variant Present in the following documents:

• Main text

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First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

American Journal Of Medical Genetics. Part A

Rauen, Katherine A KA; Alsaegh, Abeer A; Ben-Shachar, Shay S; Berman, Yemima Y; Blakeley, Jaishri J; Cordeiro, Isabel I; Elgersma, Ype Y; Evans, D Gareth DG; Fisher, Michael J MJ; Frayling, Ian M IM; George, Joshi J; Huson, Susan M SM; Kerr, Bronwyn B; Khire, Uday U; Korf, Bruce B; Legius, Eric E; Messiaen, Ludwine L; van Minkelen, Rick R; Nampoothiri, Sheela S; Ngeow, Joanne J; Parada, Luis F LF; Phadke, Shubha S; Pillai, Ashok A; Plotkin, Scott R SR; Puri, Ratna R; Raji, Anup A; Ramesh, Vijaya V; Ratner, Nancy N; Shankar, Suma P SP; Sharda, Sheetal S; Tambe, Anant A; Vikkula, Miikka M; Widemann, Brigitte C BC; Wolkenstein, Pierre P; Upadhyaya, Meena M

Publication Date: 2019-06

Variant appearance in text: CS: G12A

PubMed Link: 30908877

Variant Present in the following documents:

• Main text

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The Evolutionary Dynamics of the Odorant Receptor Gene Family in Corbiculate Bees.

Genome Biology And Evolution

Brand, Philipp P; Ramírez, Santiago R SR

Publication Date: 2017-08-01

Variant appearance in text: CS: G12A

PubMed Link: 28854688

Variant Present in the following documents:

• evx149.pdf

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Receptor Signaling Directs Global Recruitment of Pre-existing Transcription Factors to Inducible Elements.

The Yale Journal Of Biology And Medicine

Cockerill, Peter N PN

Publication Date: 2016-12

Variant appearance in text: CS: G12A

PubMed Link: 28018147

Variant Present in the following documents:

• yjbm_89_4_591.pdf

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Exploring the interactions of the RAS family in the human protein network and their potential implications in RAS-directed therapies.

Oncotarget

Bueno, Anibal A; Morilla, Ian I; Diez, Diego D; Moya-Garcia, Aurelio A AA; Lozano, José J; Ranea, Juan A G JA

Publication Date: 2016-11-15

Variant appearance in text: CS: G12A

PubMed Link: 27713118

Variant Present in the following documents:

• oncotarget-07-75810-s002.xlsx, sheet 7
• oncotarget-07-75810-s002.xlsx, sheet 11

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Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.

American Journal Of Medical Genetics. Part A

Robbins, Katherine M KM; Stabley, Deborah L DL; Holbrook, Jennifer J; Sahraoui, Rebecca R; Sadreameli, Alexa A; Conard, Katrina K; Baker, Laura L; Gripp, Karen W KW; Sol-Church, Katia K

Publication Date: 2016-12

Variant appearance in text: CS: 35G>C

PubMed Link: 27589201

Variant Present in the following documents:

• Main text

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Pathogenetics of the RASopathies.

Human Molecular Genetics

Tidyman, William E WE; Rauen, Katherine A KA

Publication Date: 2016-10-01

Variant appearance in text: CS: G12A

PubMed Link: 27412009

Variant Present in the following documents:

• Main text

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Respiratory system involvement in Costello syndrome.

American Journal Of Medical Genetics. Part A

Gomez-Ospina, Natalia N; Kuo, Christin C; Ananth, Amitha Lakshmi AL; Myers, Angela A; Brennan, Marie-Luise ML; Stevenson, David A DA; Bernstein, Jonathan A JA; Hudgins, Louanne L

Publication Date: 2016-07

Variant appearance in text: CS: G12A

PubMed Link: 27102959

Variant Present in the following documents:

• Main text

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Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation.

Italian Journal Of Pediatrics

Blachowska, Ewa E; Petriczko, Elżbieta E; Horodnicka-Józwa, Anita A; Skórka, Agata A; Pelc, Magdalena M; Krajewska-Walasek, Małgorzata M; Walczak, Mieczysław M

Publication Date: 2016-01-26

Variant appearance in text: CS: 35G>C

PubMed Link: 26812928

Variant Present in the following documents:

• Main text
• 13052_2015_Article_209.pdf

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Novel microscopy-based screening method reveals regulators of contact-dependent intercellular transfer.

Scientific Reports

Frei, Dominik Michael DM; Hodneland, Erlend E; Rios-Mondragon, Ivan I; Burtey, Anne A; Neumann, Beate B; Bulkescher, Jutta J; Schölermann, Julia J; Pepperkok, Rainer R; Gerdes, Hans-Hermann HH; Kögel, Tanja T

Publication Date: 2015-08-14

Variant appearance in text: CS: G12A

PubMed Link: 26271723

Variant Present in the following documents:

• Main text

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The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model.

Bmc Medical Genetics

García-Cruz, Roseli R; Camats, Maria M; Calin, George A GA; Liu, Chang-Gong CG; Volinia, Stefano S; Taccioli, Cristian C; Croce, Carlo M CM; Bach-Elias, Montse M

Publication Date: 2015-07-03

Variant appearance in text: CS: G12A

PubMed Link: 26138095

Variant Present in the following documents:

• Main text

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Role of tautomerism in RNA biochemistry.

Rna (New York, N.Y.)

Singh, Vipender V; Fedeles, Bogdan I BI; Essigmann, John M JM

Publication Date: 2015-01

Variant appearance in text: CS: G12A

PubMed Link: 25516996

Variant Present in the following documents:

• Main text

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A new era in palaeomicrobiology: prospects for ancient dental calculus as a long-term record of the human oral microbiome.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences

Warinner, Christina C; Speller, Camilla C; Collins, Matthew J MJ

Publication Date: 2015-01-19

Variant appearance in text: CS: G12a

PubMed Link: 25487328

Variant Present in the following documents:

• rstb20130376.pdf

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Tissue-specific gene expression and regulation in liver and muscle following chronic corticosteroid administration.

Gene Regulation And Systems Biology

Nguyen, Tung T TT; Almon, Richard R RR; Dubois, Debra C DC; Sukumaran, Siddharth S; Jusko, William J WJ; Androulakis, Ioannis P IP

Publication Date: 2014

Variant appearance in text: CS: g12a

PubMed Link: 24653645

Variant Present in the following documents:

• Main text
• grsb-8-2014-075.pdf

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Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.

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

Giannoulatou, Eleni E; McVean, Gilean G; Taylor, Indira B IB; McGowan, Simon J SJ; Maher, Geoffrey J GJ; Iqbal, Zamin Z; Pfeifer, Susanne P SP; Turner, Isaac I; Burkitt Wright, Emma M M EM; Shorto, Jennifer J; Itani, Aysha A; Turner, Karen K; Gregory, Lorna L; Buck, David D; Rajpert-De Meyts, Ewa E; Looijenga, Leendert H J LH; Kerr, Bronwyn B; Wilkie, Andrew O M AO; Goriely, Anne A

Publication Date: 2013-12-10

Variant appearance in text: CS: 35G>C; G12A

PubMed Link: 24259709

Variant Present in the following documents:

• Main text

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The RASopathies.

Annual Review Of Genomics And Human Genetics

Rauen, Katherine A KA

Publication Date: 2013

Variant appearance in text: CS: G12A

PubMed Link: 23875798

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• Main text

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Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development.

The British Journal Of Dermatology

Siegel, D H DH; Mann, J A JA; Krol, A L AL; Rauen, K A KA

Publication Date: 2012-03

Variant appearance in text: CS: G12A

PubMed Link: 22098123

Variant Present in the following documents:

• Main text

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Ras in cancer and developmental diseases.

Genes & Cancer

Fernández-Medarde, Alberto A; Santos, Eugenio E

Publication Date: 2011-03

Variant appearance in text: CS: G12A

PubMed Link: 21779504

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• Main text

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De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.

Bmj Case Reports

Søvik, Oddmund O; Schubbert, Suzanne S; Houge, Gunnar G; Steine, Solrun J SJ; Norgård, Gunnar G; Engelsen, Bernt B; Njølstad, Pål R PR; Shannon, Kevin K; Molven, Anders A

Publication Date: 2009

Variant appearance in text: CS: G12A

PubMed Link: 21686750

Variant Present in the following documents:

• Main text

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Protein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival.

Plos Biology

Wang, Qi Q; Johnson, Joshua L JL; Agar, Nathalie Y R NY; Agar, Jeffrey N JN

Publication Date: 2008-07-29

Variant appearance in text: CS: G12A

PubMed Link: 18666828

Variant Present in the following documents:

• pbio.0060170.pdf

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Characterization of genetically matched isolates of Campylobacter jejuni reveals that mutations in genes involved in flagellar biosynthesis alter the organism's virulence potential.

Applied And Environmental Microbiology

Malik-Kale, Preeti P; Raphael, Brian H BH; Parker, Craig T CT; Joens, Lynn A LA; Klena, John D JD; Quiñones, Beatriz B; Keech, Amy M AM; Konkel, Michael E ME

Publication Date: 2007-05

Variant appearance in text: CS: G12a

PubMed Link: 17369342

Variant Present in the following documents:

• Main text

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Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

Journal Of Medical Genetics

Kerr, B B; Delrue, M-A MA; Sigaudy, S S; Perveen, R R; Marche, M M; Burgelin, I I; Stef, M M; Tang, B B; Eden, O B OB; O'Sullivan, J J; De Sandre-Giovannoli, A A; Reardon, W W; Brewer, C C; Bennett, C C; Quarell, O O; M'Cann, E E; Donnai, D D; Stewart, F F; Hennekam, R R; Cavé, H H; Verloes, A A; Philip, N N; Lacombe, D D; Levy, N N; Arveiler, B B; Black, G G

Publication Date: 2006-05

Variant appearance in text: CS: G12A

PubMed Link: 16443854

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• Main text

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Pancreatic tumours: molecular pathways implicated in ductal cancer are involved in ampullary but not in exocrine nonductal or endocrine tumorigenesis.

British Journal Of Cancer

Moore, P S PS; Orlandini, S S; Zamboni, G G; Capelli, P P; Rigaud, G G; Falconi, M M; Bassi, C C; Lemoine, N R NR; Scarpa, A A

Publication Date: 2001-01

Variant appearance in text: CS: G12A

PubMed Link: 11161385

Variant Present in the following documents:

• 84-6691567a.pdf

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