PMC Links for OMIM (Select 605557) - PMC

Select item 50182071.

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings, Taru Tukiainen, Daniel P Birnbaum, Jack A Kosmicki, Laramie E Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce-Hoffman, Joanne Berghout, David N Cooper, Nicole Deflaux, Mark DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura Gauthier, Jackie Goldstein, Namrata Gupta, Daniel Howrigan, Adam Kiezun, Mitja I Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M Peloso, Ryan Poplin, Manuel A Rivas, Valentin Ruano-Rubio, Samuel A Rose, Douglas M Ruderfer, Khalid Shakir, Peter D Stenson, Christine Stevens, Brett P Thomas, Grace Tiao, Maria T Tusie-Luna, Ben Weisburd, Hong-Hee Won, Dongmei Yu, David M Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosua, Jose C Florez, Stacey B Gabriel, Gad Getz, Stephen J Glatt, Christina M Hultman, Sekar Kathiresan, Markku Laakso, Steven McCarroll, Mark I McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M Neale, Aarno Palotie, Shaun M Purcell, Danish Saleheen, Jeremiah M Scharf, Pamela Sklar, Patrick F Sullivan, Jaakko Tuomilehto, Ming T Tsuang, Hugh C Watkins, James G Wilson, Mark J Daly, Daniel G MacArthur

Nature. Author manuscript; available in PMC 2017 Feb 17.

Published in final edited form as: Nature. 2016 Aug 18; 536(7616): 285–291. doi: 10.1038/nature19057

PMCID:: PMC5018207

Abstract Article PDF–3.1M

Select item 38556382.

EHMT1 controls brown adipose cell fate and thermogenesis through the PRDM16 complex

Haruya Ohno, Kosaku Shinoda, Kana Ohyama, Louis Z. Sharp, Shingo Kajimura

Nature. Author manuscript; available in PMC 2014 Jun 5.

Published in final edited form as: Nature. 2013 Dec 5; 504(7478): 163–167. Published online 2013 Nov 6. doi: 10.1038/nature12652

PMCID:: PMC3855638

Abstract Article PDF–1.8M

Select item 37107503.

Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy

Anne-Karin Arndt, Sebastian Schafer, Jorg-Detlef Drenckhahn, M. Khaled Sabeh, Eva R. Plovie, Almuth Caliebe, Eva Klopocki, Gabriel Musso, Andreas A. Werdich, Hermann Kalwa, Matthias Heinig, Robert F. Padera, Katharina Wassilew, Julia Bluhm, Christine Harnack, Janine Martitz, Paul J. Barton, Matthias Greutmann, Felix Berger, Norbert Hubner, Reiner Siebert, Hans-Heiner Kramer, Stuart A. Cook, Calum A. MacRae, Sabine Klaassen

Am J Hum Genet. 2013 Jul 11; 93(1): 67–77. doi: 10.1016/j.ajhg.2013.05.015

PMCID:: PMC3710750

Abstract Article PDF–2.6M

Select item 28166114.

Prdm16 is required for normal palatogenesis in mice

Bryan C. Bjork, Annick Turbe-Doan, Mary Prysak, Bruce J. Herron, David R. Beier

Hum Mol Genet. 2010 Mar 1; 19(5): 774–789. Published online 2009 Dec 11. doi: 10.1093/hmg/ddp543

PMCID:: PMC2816611

Abstract Article PDF–860K

Select item 27548675.

Initiation of myoblast/brown fat switch through a PRDM16-C/EBP-ß transcriptional complex

Shingo Kajimura, Patrick Seale, Kazuishi Kubota, Elaine Lunsford, John V. Frangioni, Steven P. Gygi, Bruce M. Spiegelman

Nature. Author manuscript; available in PMC 2010 Feb 27.

Published in final edited form as: Nature. 2009 Aug 27; 460(7259): 1154–1158. Published online 2009 Jul 29. doi: 10.1038/nature08262

PMCID:: PMC2754867

Abstract Article PDF–2.3M

Select item 27459726.

New role of bone morphogenetic protein 7 in brown adipogenesis and energy expenditure

Yu-Hua Tseng, Efi Kokkotou, Tim J. Schulz, Tian Lian Huang, Jonathon N. Winnay, Cullen M. Taniguchi, Thien T. Tran, Ryo Suzuki, Daniel O. Espinoza, Yuji Yamamoto, Molly J. Ahrens, Andrew T. Dudley, Andrew W. Norris, Rohit N. Kulkarni, C. Ronald Kahn

Nature. Author manuscript; available in PMC 2009 Sep 17.

Published in final edited form as: Nature. 2008 Aug 21; 454(7207): 1000–1004. doi: 10.1038/nature07221

PMCID:: PMC2745972

Abstract Article PDF–2.9M

Select item 25833297.

PRDM16 Controls a Brown Fat/Skeletal Muscle Switch

Patrick Seale, Bryan Bjork, Wenli Yang, Shingo Kajimura, Shihuan Kuang, Anthony Scime, Srikripa Devarakonda, Sherry Chin, Heather M. Conroe, Hediye Erdjument-Bromage, Paul Tempst, Michael A. Rudnicki, David R. Beier, Bruce M. Spiegelman

Nature. Author manuscript; available in PMC 2008 Nov 17.

Published in final edited form as: Nature. 2008 Aug 21; 454(7207): 961–967. doi: 10.1038/nature07182

PMCID:: PMC2583329

Abstract Article PDF–4.5M

Select item 20821448.

Overexpression of sPRDM16 coupled with loss of p53 induces myeloid leukemias in mice

Danielle C. Shing, Maurizio Trubia, Francesco Marchesi, Enrico Radaelli, Elena Belloni, Cinzia Tapinassi, Eugenio Scanziani, Cristina Mecucci, Barbara Crescenzi, Idoya Lahortiga, Maria D. Odero, Giuseppe Zardo, Alicja Gruszka, Saverio Minucci, Pier Paolo Di Fiore, Pier Giuseppe Pelicci

J Clin Invest. 2007 Dec 3; 117(12): 3696–3707. Published online 2007 Nov 21. doi: 10.1172/JCI32390

PMCID:: PMC2082144

Abstract Article PDF–1.6M

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