Lipocalin 2 - mutation screen and serum levels in patients with anorexia nervosa or obesity and in lean individuals.
Frontiers In Endocrinology
Zheng, Yiran Y; Rajcsanyi, Luisa Sophie LS; Kowalczyk, Manuela M; Giuranna, Johanna J; Herpertz-Dahlmann, Beate B; Seitz, Jochen J; de Zwaan, Martina M; Herzog, Wolfgang W; Ehrlich, Stefan S; Zipfel, Stephan S; Giel, Katrin K; Egberts, Karin K; Burghardt, Roland R; Föcker, Manuel M; Al-Lahham, Saad S; Hebebrand, Johannes J; Fuhrer, Dagmar D; Tan, Susanne S; Zwanziger, Denise D; Peters, Triinu T; Hinney, Anke A
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Nature Communications
Goodrich, Julia K JK; Singer-Berk, Moriel M; Son, Rachel R; Sveden, Abigail A; Wood, Jordan J; England, Eleina E; Cole, Joanne B JB; Weisburd, Ben B; Watts, Nick N; Caulkins, Lizz L; Dornbos, Peter P; Koesterer, Ryan R; Zappala, Zachary Z; Zhang, Haichen H; Maloney, Kristin A KA; Dahl, Andy A; Aguilar-Salinas, Carlos A CA; Atzmon, Gil G; Barajas-Olmos, Francisco F; Barzilai, Nir N; Blangero, John J; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Bottinger, Erwin E; Bowden, Donald W DW; Centeno-Cruz, Federico F; Chambers, John C JC; Chami, Nathalie N; Chan, Edmund E; Chan, Juliana J; Cheng, Ching-Yu CY; Cho, Yoon Shin YS; Contreras-Cubas, Cecilia C; Córdova, Emilio E; Correa, Adolfo A; DeFronzo, Ralph A RA; Duggirala, Ravindranath R; Dupuis, Josée J; Garay-Sevilla, Ma Eugenia ME; García-Ortiz, Humberto H; Gieger, Christian C; Glaser, Benjamin B; González-Villalpando, Clicerio C; Gonzalez, Ma Elena ME; Grarup, Niels N; Groop, Leif L; Gross, Myron M; Haiman, Christopher C; Han, Sohee S; Hanis, Craig L CL; Hansen, Torben T; Heard-Costa, Nancy L NL; Henderson, Brian E BE; Hernandez, Juan Manuel Malacara JMM; Hwang, Mi Yeong MY; Islas-Andrade, Sergio S; Jørgensen, Marit E ME; Kang, Hyun Min HM; Kim, Bong-Jo BJ; Kim, Young Jin YJ; Koistinen, Heikki A HA; Kooner, Jaspal Singh JS; Kuusisto, Johanna J; Kwak, Soo-Heon SH; Laakso, Markku M; Lange, Leslie L; Lee, Jong-Young JY; Lee, Juyoung J; Lehman, Donna M DM; Linneberg, Allan A; Liu, Jianjun J; Loos, Ruth J F RJF; Lyssenko, Valeriya V; Ma, Ronald C W RCW; Martínez-Hernández, Angélica A; Meigs, James B JB; Meitinger, Thomas T; Mendoza-Caamal, Elvia E; Mohlke, Karen L KL; Morris, Andrew D AD; Morrison, Alanna C AC; Ng, Maggie C Y MCY; Nilsson, Peter M PM; O'Donnell, Christopher J CJ; Orozco, Lorena L; Palmer, Colin N A CNA; Park, Kyong Soo KS; Post, Wendy S WS; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Reiner, Alexander P AP; Revilla-Monsalve, Cristina C; Rich, Stephen S SS; Rotter, Jerome I JI; Saleheen, Danish D; Schurmann, Claudia C; Sim, Xueling X; Sladek, Rob R; Small, Kerrin S KS; So, Wing Yee WY; Spector, Timothy D TD; Strauch, Konstantin K; Strom, Tim M TM; Tai, E Shyong ES; Tam, Claudia H T CHT; Teo, Yik Ying YY; Thameem, Farook F; Tomlinson, Brian B; Tracy, Russell P RP; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Tusié-Luna, Teresa T; van Dam, Rob M RM; Vasan, Ramachandran S RS; Wilson, James G JG; Witte, Daniel R DR; Wong, Tien-Yin TY; , ; Burtt, Noël P NP; Zaitlen, Noah N; McCarthy, Mark I MI; Boehnke, Michael M; Pollin, Toni I TI; Flannick, Jason J; Mercader, Josep M JM; O'Donnell-Luria, Anne A; Baxter, Samantha S; Florez, Jose C JC; MacArthur, Daniel G DG; Udler, Miriam S MS
Publication Date: 2021-06-09
Variant appearance in text: MC4R: 380C>T; Ser127Leu
Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.
Nature Medicine
Wade, Kaitlin H KH; Lam, Brian Y H BYH; Melvin, Audrey A; Pan, Warren W; Corbin, Laura J LJ; Hughes, David A DA; Rainbow, Kara K; Chen, Jian-Hua JH; Duckett, Katie K; Liu, Xiaoming X; Mokrosiński, Jacek J; Mörseburg, Alexander A; Neaves, Sam S; Williamson, Alice A; Zhang, Chen C; Farooqi, I Sadaf IS; Yeo, Giles S H GSH; Timpson, Nicholas J NJ; O'Rahilly, Stephen S
Publication Date: 2021-06
Variant appearance in text: MC4R: S127L; rs13447331
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.
International Journal Of Obesity (2005)
Namjou, Bahram B; Stanaway, Ian B IB; Lingren, Todd T; Mentch, Frank D FD; Benoit, Barbara B; Dikilitas, Ozan O; Niu, Xinnan X; Shang, Ning N; Shoemaker, Ashley H AH; Carey, David J DJ; Mirshahi, Tooraj T; Singh, Rajbir R; Nestor, Jordan G JG; Hakonarson, Hakon H; Denny, Joshua C JC; Crosslin, David R DR; Jarvik, Gail P GP; Kullo, Iftikhar J IJ; Williams, Marc S MS; , ; Harley, John B JB
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
Plos One
Kleinendorst, Lotte L; Abawi, Ozair O; van der Voorn, Bibian B; Jongejan, Mieke H T M MHTM; Brandsma, Annelies E AE; Visser, Jenny A JA; van Rossum, Elisabeth F C EFC; van der Zwaag, Bert B; Alders, Mariëlle M; Boon, Elles M J EMJ; van Haelst, Mieke M MM; van den Akker, Erica L T ELT
Publication Date: 2020
Variant appearance in text: MC4R: 380C>T; Ser127Leu
Differential Signaling Profiles of MC4R Mutations with Three Different Ligands.
International Journal Of Molecular Sciences
Paisdzior, Sarah S; Dimitriou, Ioanna Maria IM; Schöpe, Paul Curtis PC; Annibale, Paolo P; Scheerer, Patrick P; Krude, Heiko H; Lohse, Martin J MJ; Biebermann, Heike H; Kühnen, Peter P
Heterozygous rare genetic variants in non-syndromic early-onset obesity.
International Journal Of Obesity (2005)
Serra-Juhé, Clara C; Martos-Moreno, Gabriel Á GÁ; Bou de Pieri, Francesc F; Flores, Raquel R; Chowen, Julie A JA; Pérez-Jurado, Luis A LA; Argente, Jesús J
Insights into the Allosteric Mechanism of Setmelanotide (RM-493) as a Potent and First-in-Class Melanocortin-4 Receptor (MC4R) Agonist To Treat Rare Genetic Disorders of Obesity through an in Silico Approach.
A heterozygous mutation in the third transmembrane domain causes a dominant-negative effect on signalling capability of the MC4R.
Obesity Facts
Tarnow, Patrick P; Rediger, Anne A; Brumm, Harald H; Ambrugger, Petra P; Rettenbacher, Eva E; Widhalm, Kurt K; Hinney, Anke A; Kleinau, Gunnar G; Schaefer, Michael M; Hebebrand, Johannes J; Krause, Gerd G; Grüters, Annette A; Biebermann, Heike H
Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity.
Bmc Medical Genetics
Santoro, Nicola N; Cirillo, Grazia G; Xiang, Zhimin Z; Tanas, Rita R; Greggio, Nella N; Morino, Giuseppe G; Iughetti, Lorenzo L; Vottero, Alessandra A; Salvatoni, Alessandro A; Di Pietro, Mario M; Balsamo, Antonio A; Crinò, Antonino A; Grandone, Anna A; Haskell-Luevano, Carrie C; Perrone, Laura L; del Giudice, Emanuele Miraglia EM
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.
Human Molecular Genetics
Calton, Melissa A MA; Ersoy, Baran A BA; Zhang, Sumei S; Kane, John P JP; Malloy, Mary J MJ; Pullinger, Clive R CR; Bromberg, Yana Y; Pennacchio, Len A LA; Dent, Robert R; McPherson, Ruth R; Ahituv, Nadav N; Vaisse, Christian C
Publication Date: 2009-03-15
Variant appearance in text: MC4R: 380C>T; Ser127Leu
Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.
Diabetes
Stutzmann, Fanny F; Tan, Karen K; Vatin, Vincent V; Dina, Christian C; Jouret, Béatrice B; Tichet, Jean J; Balkau, Beverley B; Potoczna, Natascha N; Horber, Fritz F; O'Rahilly, Stephen S; Farooqi, I Sadaf IS; Froguel, Philippe P; Meyre, David D