Literature DB >> 24335900

Modeling MC1R rare variants: a structural evaluation of variants detected in a Mediterranean case-control study.

Maider Ibarrola-Villava1, Maria Peña-Chilet1, Marta J Llorca-Cardeñosa1, Sara Oltra1, Conrado-Martinez Cadenas2, Jeronimo Bravo3, Gloria Ribas4.   

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Year:  2013        PMID： 24335900     DOI： 10.1038/jid.2013.469

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  17 in total

Review 1.  Protein degradation and protection against misfolded or damaged proteins.

Authors:  Alfred L Goldberg
Journal:  Nature       Date:  2003-12-18       Impact factor: 49.962

2.  MC1R, SLC45A2 and TYR genetic variants involved in melanoma susceptibility in southern European populations: results from a meta-analysis.

Authors:  Maider Ibarrola-Villava; Hui-Han Hu; Mickaël Guedj; Lara P Fernandez; Vincent Descamps; Nicole Basset-Seguin; Martine Bagot; Armand Benssussan; Philippe Saiag; Maria Concetta Fargnoli; Ketty Peris; Jose A Aviles; Ana Lluch; Gloria Ribas; Nadem Soufir
Journal:  Eur J Cancer       Date:  2012-03-28       Impact factor: 9.162

3.  Comprehensive evaluation of allele frequency differences of MC1R variants across populations.

Authors:  Meg R Gerstenblith; Alisa M Goldstein; Maria Concetta Fargnoli; Ketty Peris; Maria Teresa Landi
Journal:  Hum Mutat       Date:  2007-05       Impact factor: 4.878

4.  Melanocortin 1 receptor and risk of cutaneous melanoma: a meta-analysis and estimates of population burden.

Authors:  Patricia F Williams; Catherine M Olsen; Nicholas K Hayward; David C Whiteman
Journal:  Int J Cancer       Date:  2011-04-01       Impact factor: 7.396

Review 5.  Classical electrostatics in biology and chemistry.

Authors:  B Honig; A Nicholls
Journal:  Science       Date:  1995-05-26       Impact factor: 47.728

6.  Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color.

Authors:  C Kennedy; J ter Huurne; M Berkhout; N Gruis; M Bastiaens; W Bergman; R Willemze; J N Bavinck
Journal:  J Invest Dermatol       Date:  2001-08       Impact factor: 8.551

7.  Regulation of human melanocortin 1 receptor signaling and trafficking by Thr-308 and Ser-316 and its alteration in variant alleles associated with red hair and skin cancer.

Authors:  Berta L Sánchez-Laorden; Celia Jiménez-Cervantes; José C García-Borrón
Journal:  J Biol Chem       Date:  2006-11-27       Impact factor: 5.157

8.  Melanoma risk associated with MC1R gene variants in Latvia and the functional analysis of rare variants.

Authors:  Aija Ozola; Kristīne Azarjana; Simona Doniņa; Guna Proboka; Ilona Mandrika; Ramona Petrovska; Ingrīda Cēma; Olita Heisele; Ludmila Eņģele; Baiba Streinerte; Dace Pjanova
Journal:  Cancer Genet       Date:  2013-03-20

9.  Aberrant trafficking of human melanocortin 1 receptor variants associated with red hair and skin cancer: Steady-state retention of mutant forms in the proximal golgi.

Authors:  Berta L Sánchez-Laorden; Cecilia Herraiz; Julio C Valencia; Vincent J Hearing; Celia Jiménez-Cervantes; José C García-Borrón
Journal:  J Cell Physiol       Date:  2009-09       Impact factor: 6.384

10.  Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathways.

Authors:  Richard A Newton; Donald W Roberts; J Helen Leonard; Richard A Sturm
Journal:  Peptides       Date:  2007-10-10       Impact factor: 3.750
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  4 in total

1.  Melanocortin-1 Receptor Polymorphisms and the Risk of Complicated Sepsis After Trauma: A Candidate Gene Association Study.

Authors:  Max E Seaton; Brodie A Parent; Ravi F Sood; Mark M Wurfel; Lara A Muffley; Grant E O'Keefe; Nicole S Gibran
Journal:  Shock       Date:  2017-01       Impact factor: 3.454

Review 2.  MC1R, the cAMP pathway, and the response to solar UV: extending the horizon beyond pigmentation.

Authors:  Jose C García-Borrón; Zalfa Abdel-Malek; Celia Jiménez-Cervantes
Journal:  Pigment Cell Melanoma Res       Date:  2014-05-30       Impact factor: 4.693

3.  The next generation of metastatic melanoma: uncovering the genetic variants for anti-BRAF therapy response.

Authors:  Rosamaria Pinto; Simona De Summa; Sabino Strippoli; Brunella Pilato; Amalia Azzariti; Gabriella Guida; Michele Guida; Stefania Tommasi
Journal:  Oncotarget       Date:  2016-05-03

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

Authors:  Vanessa Neitzke-Montinelli; Priscila da Silva Figueiredo Celestino Gomes; Pedro G Pascutti; Rodrigo S Moura-Neto; Rosane Silva
Journal:  PLoS One       Date:  2022-04-22       Impact factor: 3.240
  4 in total

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