Publications:

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Genetic diversity of the melanocortin-1 receptor in an admixed population of Rio de Janeiro: Structural and functional impacts of Cys35Tyr variant.

Plos One

Neitzke-Montinelli, Vanessa V; da Silva Figueiredo Celestino Gomes, Priscila P; Pascutti, Pedro G PG; Moura-Neto, Rodrigo S RS; Silva, Rosane R

Publication Date: 2022

Variant appearance in text: MC1R: Arg151His; rs149922657

PubMed Link: 35452484

Variant Present in the following documents:

• pone.0267286.s002.xlsx, sheet 1

View BVdb publication page

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Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T

Publication Date: 2021-12

Variant appearance in text: rs149922657

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T

Publication Date: 2021-12

Variant appearance in text: rs149922657

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort.

The Lancet. Child & Adolescent Health

Pellegrini, Cristina C; Botta, Francesca F; Massi, Daniela D; Martorelli, Claudia C; Facchetti, Fabio F; Gandini, Sara S; Maisonneuve, Patrick P; Avril, Marie-Françoise MF; Demenais, Florence F; Bressac-de Paillerets, Brigitte B; Hoiom, Veronica V; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Marrett, Loraine L; Zanetti, Roberto R; Dwyer, Terence T; Thomas, Nancy E NE; Begg, Colin B CB; Berwick, Marianne M; Puig, Susana S; Potrony, Miriam M; Nagore, Eduardo E; Ghiorzo, Paola P; Menin, Chiara C; Manganoni, Ausilia Maria AM; Rodolfo, Monica M; Brugnara, Sonia S; Passoni, Emanuela E; Sekulovic, Lidija Kandolf LK; Baldini, Federica F; Guida, Gabriella G; Stratigos, Alexandros A; Ozdemir, Fezal F; Ayala, Fabrizio F; Fernandez-de-Misa, Ricardo R; Quaglino, Pietro P; Ribas, Gloria G; Romanini, Antonella A; Migliano, Emilia E; Stanganelli, Ignazio I; Kanetsky, Peter A PA; Pizzichetta, Maria Antonietta MA; García-Borrón, Jose Carlos JC; Nan, Hongmei H; Landi, Maria Teresa MT; Little, Julian J; Newton-Bishop, Julia J; Sera, Francesco F; Fargnoli, Maria Concetta MC; Raimondi, Sara S; , ; , ; ,

Publication Date: 2019-05

Variant appearance in text: MC1R: R151H

PubMed Link: 30872112

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs149922657

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs149922657

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: MC1R: 452G>A; R151H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.

Plos One

Hepp, Diego D; Gonçalves, Gislene Lopes GL; de Freitas, Thales Renato Ochotorena TR

Publication Date: 2015

Variant appearance in text: MC1R: R151H; rs149922657

PubMed Link: 25794181

Variant Present in the following documents:

• Main text
• pone.0121812.pdf

View BVdb publication page

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