Publications:

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Immunization with nanovaccines containing mutated K-Ras peptides and imiquimod aggravates heterotopic pancreatic cancer induced in mice.

Frontiers In Immunology

Martínez-Pérez, Amparo A; Diego-González, Lara L; Vilanova, Manuel M; Correia, Alexandra A; Simón-Vázquez, Rosana R; González-Fernández, África Á

Publication Date: 2023

Variant appearance in text: CS: G12R

PubMed Link: 37122717

Variant Present in the following documents:

• Main text
• fimmu-14-1153724.pdf

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RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.

The Application Of Clinical Genetics

Chaves Rabelo, Natana N; Gomes, Maria Eduarda ME; de Oliveira Moraes, Isabelle I; Cantagalli Pfisterer, Juliana J; Loss de Morais, Guilherme G; Antunes, Deborah D; Caffarena, Ernesto Raúl ER; Llerena, Juan J; Gonzalez, Sayonara S

Publication Date: 2022

Variant appearance in text: CS: 34G>A; Gly12Ser

PubMed Link: 36304179

Variant Present in the following documents:

• Main text
• tacg-15-153.pdf

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Dysregulated ECM remodeling proteins lead to aberrant osteogenesis of Costello syndrome iPSCs.

Stem Cell Reports

Choi, Jong Bin JB; Lee, Joonsun J; Kang, Minyong M; Kim, Bumsoo B; Ju, Younghee Y; Do, Hyo-Sang HS; Yoo, Han-Wook HW; Lee, Beom Hee BH; Han, Yong-Mahn YM

Publication Date: 2021-08-10

Variant appearance in text: CS: 34G>A

PubMed Link: 34242618

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.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: 34G>A; Gly12Ser

PubMed Link: 33932139

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: 34G>A

PubMed Link: 33088020

Variant Present in the following documents:

• Main text
• cpe-29-195.pdf

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Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome.

Brain Sciences

Romeo, Domenico M DM; Specchia, Alessandro A; Fasano, Alfonso A; Leoni, Chiara C; Onesimo, Roberta R; Brogna, Claudia C; Veltri, Stefania S; Zampino, Giuseppe G

Publication Date: 2020-07-14

Variant appearance in text: CS: 34G>A; Gly12Ser

PubMed Link: 32674506

Variant Present in the following documents:

• Main text
• brainsci-10-00450.pdf

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Abstracts from the 37th Congress of the Société Internationale d'Urologie, Centro de Congressos de Lisboa, October 19-22, 2017.

World Journal Of Urology

Publication Date: 2017-10

Variant appearance in text: CS: 34G>A

PubMed Link: 29051965

Variant Present in the following documents:

• 345_2017_Article_2090.pdf

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Genotype and phenotype spectrum of NRAS germline variants.

European Journal Of Human Genetics : Ejhg

Altmüller, Franziska F; Lissewski, Christina C; Bertola, Debora D; Flex, Elisabetta E; Stark, Zornitza Z; Spranger, Stephanie S; Baynam, Gareth G; Buscarilli, Michelle M; Dyack, Sarah S; Gillis, Jane J; Yntema, Helger G HG; Pantaleoni, Francesca F; van Loon, Rosa LE RL; MacKay, Sara S; Mina, Kym K; Schanze, Ina I; Tan, Tiong Yang TY; Walsh, Maie M; White, Susan M SM; Niewisch, Marena R MR; García-Miñaúr, Sixto S; Plaza, Diego D; Ahmadian, Mohammad Reza MR; Cavé, Hélène H; Tartaglia, Marco M; Zenker, Martin M

Publication Date: 2017-06

Variant appearance in text: CS: 34G>A; Gly12Arg

PubMed Link: 28594414

Variant Present in the following documents:

• Main text

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Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature.

Case Reports In Genetics

Sánchez-Montenegro, Carlos C; Vilanova-Sánchez, Alejandra A; Barrena-Delfa, Saturnino S; Tenorio, Jair J; Santos-Simarro, Fernando F; García-Miñaur, Sixto S; Lapunzina, Pablo P; Martínez-Martínez, Leopoldo L

Publication Date: 2017

Variant appearance in text: CS: 34G>A

PubMed Link: 28203467

Variant Present in the following documents:

• Main text
• CRIG2017-1587610.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: G12R

PubMed Link: 27713118

Variant Present in the following documents:

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

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The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.

Plos Genetics

Hartung, Anne-Mette AM; Swensen, Jeff J; Uriz, Inaki E IE; Lapin, Morten M; Kristjansdottir, Karen K; Petersen, Ulrika S S US; Bang, Jeanne Mari V JM; Guerra, Barbara B; Andersen, Henriette Skovgaard HS; Dobrowolski, Steven F SF; Carey, John C JC; Yu, Ping P; Vaughn, Cecily C; Calhoun, Amy A; Larsen, Martin R MR; Dyrskjøt, Lars L; Stevenson, David A DA; Andresen, Brage S BS

Publication Date: 2016-05

Variant appearance in text: CS: 34G>A; Gly12Ser

PubMed Link: 27195699

Variant Present in the following documents:

• Main text
• pgen.1006039.pdf

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Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.

American Journal Of Human Genetics

Yehia, Lamis L; Niazi, Farshad F; Ni, Ying Y; Ngeow, Joanne J; Sankunny, Madhav M; Liu, Zhigang Z; Wei, Wei W; Mester, Jessica L JL; Keri, Ruth A RA; Zhang, Bin B; Eng, Charis C

Publication Date: 2015-11-05

Variant appearance in text: CS: 34G>A

PubMed Link: 26522472

Variant Present in the following documents:

• Main text

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Interaction of a novel fluorescent GTP analogue with the small G-protein K-Ras.

Journal Of Biochemistry

Iwata, Seigo S; Masuhara, Kaori K; Umeki, Nobuhisa N; Sako, Yasushi Y; Maruta, Shinsaku S

Publication Date: 2016-01

Variant appearance in text: N/A

PubMed Link: 26184075

Variant Present in the following documents:

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Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.

The Journal Of Investigative Dermatology

García, Isaac E IE; Maripillán, Jaime J; Jara, Oscar O; Ceriani, Ricardo R; Palacios-Muñoz, Angelina A; Ramachandran, Jayalakshmi J; Olivero, Pablo P; Perez-Acle, Tomas T; González, Carlos C; Sáez, Juan C JC; Contreras, Jorge E JE; Martínez, Agustín D AD

Publication Date: 2015-05

Variant appearance in text: CS: G12R

PubMed Link: 25625422

Variant Present in the following documents:

• nihms657326.pdf

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Aberrant connexin26 hemichannels underlying keratitis-ichthyosis-deafness syndrome are potently inhibited by mefloquine.

The Journal Of Investigative Dermatology

Levit, Noah A NA; Sellitto, Caterina C; Wang, Hong-Zhan HZ; Li, Leping L; Srinivas, Miduturu M; Brink, Peter R PR; White, Thomas W TW

Publication Date: 2015-04

Variant appearance in text: CS: G12R

PubMed Link: 25229253

Variant Present in the following documents:

• nihms628429.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: 34G>A; G12R

PubMed Link: 24259709

Variant Present in the following documents:

• Main text

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The role of conserved waters in conformational transitions of Q61H K-ras.

Plos Computational Biology

Prakash, Priyanka P; Sayyed-Ahmad, Abdallah A; Gorfe, Alemayehu A AA

Publication Date: 2012

Variant appearance in text: CS: G12R

PubMed Link: 22359497

Variant Present in the following documents:

• pcbi.1002394.pdf

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Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.

Human Molecular Genetics

Ni, Ying Y; He, Xin X; Chen, Jinlian J; Moline, Jessica J; Mester, Jessica J; Orloff, Mohammed S MS; Ringel, Matthew D MD; Eng, Charis C

Publication Date: 2012-01-15

Variant appearance in text: CS: 34G>A; G12S

PubMed Link: 21979946

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: N/A

PubMed Link: 21779504

Variant Present in the following documents:

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Retrotransposition and mutation events yield Rap1 GTPases with differential signalling capacity.

Bmc Evolutionary Biology

Zemojtel, Tomasz T; Duchniewicz, Marlena M; Zhang, Zhongchun Z; Paluch, Taisa T; Luz, Hannes H; Penzkofer, Tobias T; Scheele, Jürgen S JS; Zwartkruis, Fried J T FJ

Publication Date: 2010-02-19

Variant appearance in text: CS: G12R

PubMed Link: 20170508

Variant Present in the following documents:

• 1471-2148-10-55.pdf

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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: G12R

PubMed Link: 11161385

Variant Present in the following documents:

• 84-6691567a.pdf

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