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Select item 55968121.

Long-Term Follow-up of a Case with Proprotein Convertase 1/3 Deficiency: Transient Diabetes Mellitus with Intervening Diabetic Ketoacidosis During Growth Hormone Therapy

E. Nazlı Gönç, Alev Özön, Ayfer Alikaşifoğlu, Nurgün Kandemir

J Clin Res Pediatr Endocrinol. 2017 Sep; 9(3): 283–287. Published online 2017 Sep 1. doi: 10.4274/jcrpe.3986

PMCID:: PMC5596812

Article PDF–1.2M

Select item 37191332.

Congenital Proprotein Convertase 1/3 Deficiency Causes Malabsorptive Diarrhea and other Endocrinopathies in a Pediatric Cohort

Martín G. Martín, Iris Lindberg, R. Sergio Solorzano-Vargas, Jiafang Wang, Yaron Avitzur, Robert Bandsma, Christiane Sokollik, Sarah Lawrence, Lindsay A. Pickett, Zijun Chen, Odul Egritas, Buket Dalgic, Valeria Albornoz, Lissy de Ridder, Jessie Hulst, Faysal Gok, Ayşen Aydoğan, Abdulrahman Al-Hussaini, Deniz Engin Gok, Michael Yourshaw, S. Vincent Wu, Galen Cortina, Sara Stanford, Senta Georgia

Gastroenterology. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Gastroenterology. 2013 Jul; 145(1): 138–148. Published online 2013 Apr 2. doi: 10.1053/j.gastro.2013.03.048

PMCID:: PMC3719133

Article PDF–2.5M

Select item 60272713.

Hyperphagia and Obesity in Prader–Willi Syndrome: PCSK1 Deficiency and Beyond?

Bruno Ramos-Molina, María Molina-Vega, José C. Fernández-García, John W. Creemers

Genes (Basel) 2018 Jun; 9(6): 288. Published online 2018 Jun 7. doi: 10.3390/genes9060288

PMCID:: PMC6027271

Article PDF–510K

Select item 37598454.

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency

Graeme R. Frank, Joyce Fox, Ninfa Candela, Zorica Jovanovic, Elena Bochukova, Jeremiah Levine, Peter R. Papenhausen, Stephen O'Rahilly, I. Sadaf Farooqi

Mol Genet Metab. 2013 Sep; 110(1-2): 191–194. doi: 10.1016/j.ymgme.2013.04.005

PMCID:: PMC3759845

Article PDF–565K

Select item 2591285.

Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency

Robert S. Jackson, John W.M. Creemers, I. Sadaf Farooqi, Marie-Laure Raffin-Sanson, Andrea Varro, Graham J. Dockray, Jens J. Holst, Patricia L. Brubaker, Pierre Corvol, Kenneth S. Polonsky, Diane Ostrega, Kenneth L. Becker, Xavier Bertagna, John C. Hutton, Anne White, Mehul T. Dattani, Khalid Hussain, Stephen J. Middleton, Thomasina M. Nicole, Peter J. Milla, Keith J. Lindley, Stephen O’Rahilly

J Clin Invest. 2003 Nov 15; 112(10): 1550–1560. doi: 10.1172/JCI18784

PMCID:: PMC259128

Article PDF–1.0M

Select item 81519716.

Novel Homozygous Inactivating Mutation in the PCSK1 Gene in an Infant with Congenital Malabsorptive Diarrhea

Laetitia Aerts, Nathalie A. Terry, Nina N. Sainath, Clarivet Torres, Martín G. Martín, Bruno Ramos-Molina, John W. Creemers

Genes (Basel) 2021 May; 12(5): 710. Published online 2021 May 10. doi: 10.3390/genes12050710

PMCID:: PMC8151971

Article PDF–6.1M

Select item 60823907.

PCSK1 Variants and Human Obesity

Bruno Ramos-Molina, Martin G. Martin, Iris Lindberg

Prog Mol Biol Transl Sci. Author manuscript; available in PMC 2018 Aug 8.

Published in final edited form as: Prog Mol Biol Transl Sci. 2016; 140: 47–74. Published online 2016 Jan 29. doi: 10.1016/bs.pmbts.2015.12.001

PMCID:: PMC6082390

Article PDF–624K

Select item 53122518.

PC1/3 Deficiency Impacts Pro-opiomelanocortin Processing in Human Embryonic Stem Cell-Derived Hypothalamic Neurons

Liheng Wang, Lina Sui, Sunil K. Panigrahi, Kana Meece, Yurong Xin, Jinrang Kim, Jesper Gromada, Claudia A. Doege, Sharon L. Wardlaw, Dieter Egli, Rudolph L. Leibel

Stem Cell Reports. 2017 Feb 14; 8(2): 264–277. Published online 2017 Jan 26. doi: 10.1016/j.stemcr.2016.12.021

PMCID:: PMC5312251

Article PDF–3.0M

Select item 32663969.

Heterozygous Mutations Causing Partial Prohormone Convertase 1 Deficiency Contribute to Human Obesity

John W.M. Creemers, Hélène Choquet, Pieter Stijnen, Vincent Vatin, Marie Pigeyre, Sigri Beckers, Sandra Meulemans, Manuel E. Than, Loïc Yengo, Maithé Tauber, Beverley Balkau, Paul Elliott, Marjo-Riitta Jarvelin, Wim Van Hul, Luc Van Gaal, Fritz Horber, François Pattou, Philippe Froguel, David Meyre

Diabetes. 2012 Feb; 61(2): 383–390. Published online 2012 Jan 17. doi: 10.2337/db11-0305

PMCID:: PMC3266396

Article PDF–921K

Select item 997343710.

Setmelanotide: a promising advancement for pediatric patients with rare forms of genetic obesity

Christine M. Trapp, Marisa Censani

Curr Opin Endocrinol Diabetes Obes. 2023 Apr; 30(2): 136–140. Published online 2023 Feb 1. doi: 10.1097/MED.0000000000000798

PMCID:: PMC9973437

Article PDF–157K

Select item 965975311.

Modulation of PC1/3 activity by a rare double-site homozygous mutation

Yanyan Ni, Xiangxiang Chen, Yi Sun, Jiarong Pan, Chao Tang, Tianming Yuan

Front Pediatr. 2022; 10: 1026707. Published online 2022 Oct 31. doi: 10.3389/fped.2022.1026707

PMCID:: PMC9659753

Article PDF–1.2M

Select item 825323012.

Mice Lacking PC1/3 Expression in POMC-expressing Cells Do Not Develop Obesity

Manita Shakya, Surbhi, Anne White, C Bruce Verchere, Malcolm J Low, Iris Lindberg

Endocrinology. 2021 Jun; 162(6): bqab055. Published online 2021 Mar 10. doi: 10.1210/endocr/bqab055

PMCID:: PMC8253230

Article

Select item 1063035013.

Pyrroloquinoline quinone inhibits PCSK9-NLRP3 mediated pyroptosis of Leydig cells in obese mice

Jinyuan Wang, Shun Zhang, Linlin Hu, Yan Wang, Ke Liu, Jianghua Le, Yongpeng Tan, Tianlong Li, Haoxuan Xue, Yanhong Wei, Ou Zhong, Junhui He, Dan Zi, Xin Lei, Renhe Deng, Yafei Luo, Masong Tang, Mingxuan Su, Yichang Cao, Qingyou Liu, Zhihan Tang, Xiaocan Lei

Cell Death Dis. 2023 Nov; 14(11): 723. Published online 2023 Nov 7. doi: 10.1038/s41419-023-06162-8

PMCID:: PMC10630350

Article PDF–9.9M

Select item 1016431914.

Deficiency of neuropeptide Y attenuates neointima formation after vascular injury in mice

Song Peng, Wei-qiang Wu, Lin-yu Li, Yan-chuan Shi, Shu Lin, Zhi-yuan Song

BMC Cardiovasc Disord. 2023; 23: 239. Published online 2023 May 6. doi: 10.1186/s12872-023-03267-y

PMCID:: PMC10164319

Article PDF–1.6M

Select item 1007314715.

The role of the osmosensitive transcription factor NFAT5 in corneal edema resorption after injury

Karina Hadrian, Gwen Musial, Alfrun Schönberg, Tihomir Georgiev, Christoph Küper, Felix Bock, Jonathan Jantsch, Claus Cursiefen, Sabine A. Eming, Deniz Hos

Exp Mol Med. 2023 Mar; 55(3): 565–573. Published online 2023 Mar 3. doi: 10.1038/s12276-023-00954-w

PMCID:: PMC10073147

Article PDF–4.8M

Select item 985331916.

Statin-Induced Geranylgeranyl Pyrophosphate Depletion Promotes PCSK9–Dependent Adipose Insulin Resistance

Xin Shu, Jiaqi Wu, Tao Zhang, Xiaoyu Ma, Zuoqin Du, Jin Xu, Jingcan You, Liqun Wang, Ni Chen, Mao Luo, Jianbo Wu

Nutrients. 2022 Dec; 14(24): 5314. Published online 2022 Dec 14. doi: 10.3390/nu14245314

PMCID:: PMC9853319

Article PDF–1.6M

Select item 979703917.

Obesity and Hyperphagia With Increased Defective ACTH: A Novel POMC Variant

Eline S van der Valk, Lotte Kleinendorst, Patric J D Delhanty, Bibian van der Voorn, Jenny A Visser, M M van Haelst, Laura C G de Graaff, Martin Huisman, Anne White, Shosuke Ito, Kazumasa Wakamatsu, Yolanda B de Rijke, Erica L T van den Akker, Anand M Iyer, Elisabeth F C van Rossum

J Clin Endocrinol Metab. 2022 Sep; 107(9): e3699–e3704. Published online 2022 Jun 23. doi: 10.1210/clinem/dgac342

PMCID:: PMC9797039

Article

Select item 960164818.

Rare Heterozygous PCSK1 Variants in Human Obesity: The Contribution of the p.Y181H Variant and a Literature Review

Evelien Van Dijck, Sigri Beckers, Sara Diels, Tammy Huybrechts, An Verrijken, Kim Van Hoorenbeeck, Stijn Verhulst, Guy Massa, Luc Van Gaal, Wim Van Hul

Genes (Basel) 2022 Oct; 13(10): 1746. Published online 2022 Sep 27. doi: 10.3390/genes13101746

PMCID:: PMC9601648

Article PDF–507K

Select item 954677619.

GSDMD contributes to myocardial reperfusion injury by regulating pyroptosis

Xiaomiao Ye, Peng Zhang, Yuting Zhang, Jingyun Luan, Caili Xu, Zhengyu Wu, Dianwen Ju, Wei Hu

Front Immunol. 2022; 13: 893914. Published online 2022 Sep 23. doi: 10.3389/fimmu.2022.893914

PMCID:: PMC9546776

Article PDF–6.1M

Select item 937608620.

Prohormone convertase 1/3 deficiency causes obesity due to impaired proinsulin processing

Daniel T. Meier, Leila Rachid, Sophia J. Wiedemann, Shuyang Traub, Kelly Trimigliozzi, Marc Stawiski, Loïc Sauteur, Denise V. Winter, Christelle Le Foll, Catherine Brégère, Raphael Guzman, Alex Odermatt, Marianne Böni-Schnetzler, Marc Y. Donath

Nat Commun. 2022; 13: 4761. Published online 2022 Aug 13. doi: 10.1038/s41467-022-32509-4

PMCID:: PMC9376086

Article PDF–3.6M

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