Publications:

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: MC1R: A166A

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.

Journal Of Medical Genetics

Puntervoll, Hanne Eknes HE; Yang, Xiaohong R XR; Vetti, Hildegunn Høberg HH; Bachmann, Ingeborg M IM; Avril, Marie Françoise MF; Benfodda, Meriem M; Catricalà, Caterina C; Dalle, Stéphane S; Duval-Modeste, Anne B AB; Ghiorzo, Paola P; Grammatico, Paola P; Harland, Mark M; Hayward, Nicholas K NK; Hu, Hui-Han HH; Jouary, Thomas T; Martin-Denavit, Tanguy T; Ozola, Aija A; Palmer, Jane M JM; Pastorino, Lorenza L; Pjanova, Dace D; Soufir, Nadem N; Steine, Solrun J SJ; Stratigos, Alexander J AJ; Thomas, Luc L; Tinat, Julie J; Tsao, Hensin H; Veinalde, Ruta R; Tucker, Margaret A MA; Bressac-de Paillerets, Brigitte B; Newton-Bishop, Julia A JA; Goldstein, Alisa M AM; Akslen, Lars A LA; Molven, Anders A

Publication Date: 2013-04

Variant appearance in text: MC1R: A166A

PubMed Link: 23384855

Variant Present in the following documents:

• Main text
• jmedgenet-2012-101455.pdf

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Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population.

Pigment Cell & Melanoma Research

Guan, Xiaoxiang X; Niu, Jiangong J; Liu, Zhensheng Z; Wang, Li-E LE; Amos, Christopher I CI; Lee, Jeffrey E JE; Gershenwald, Jeffrey E JE; Grimm, Elizabeth A EA; Wei, Qingyi Q

Publication Date: 2013-05

Variant appearance in text: MC1R: 498G>A

PubMed Link: 23360207

Variant Present in the following documents:

• Main text

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Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

Bmc Genetics

Savage, Sharon A SA; Gerstenblith, Meg R MR; Goldstein, Alisa M AM; Mirabello, Lisa L; Fargnoli, Maria Concetta MC; Peris, Ketty K; Landi, Maria Teresa MT

Publication Date: 2008-04-10

Variant appearance in text: MC1R: 498G>A; A166A

PubMed Link: 18402696

Variant Present in the following documents:

• Main text
• 1471-2156-9-31.pdf

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