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Hyperphagia and Early-Onset Obesity due to a Novel Homozygous Missense Mutation in Prohormone Convertase 1/3
Abstract
CONTEXT: Congenital deficiency of the neuroendocrine-specific enzyme prohormone convertase (PC) 1/3 leads to a syndrome characterized by obesity, small intestinal dysfunction, and dysregulation of glucose homeostasis in humans. To date, only two unrelated subjects with this disorder have been reported. RESEARCH DESIGN AND METHODS: We now report a third proband, a 6-yr-old boy, offspring of a consanguineous union of parents of North African origin, who was homozygous for a novel missense mutation Ser307Leu. We characterized the functional properties of the mutant PC1/3 and characterized the clinical phenotype of the patient. RESULTS: In vitro this mutation markedly impairs the catalytic activity of the convertase. However, in contrast to other previously described naturally occurring mutations, intracellular trafficking of this mutant enzyme appeared normal. The Ser307Leu mutant retained some autocatalytic activity, even though it was completely inactive on other substrates. As with the previous two patients, this child had obesity and persistent diarrhea, however, there was no history of reactive hypoglycemia. The patient showed markedly increased food intake at an ad libitum test meal, confirming that hyperphagia makes a major contribution to the obesity seen in this syndrome. CONCLUSION: This case extends the clinical and molecular spectrum of human congenital PC1/3 deficiency.
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“This mutation is also within the catalytic domain and severely impairs the catalytic activity of the enzyme.68”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [68]
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Citations
Cites
Body mass index reference curves for the UK, 1990.
Cole, T. J., Freeman, J. V., & Preece, M. A. (1995) · Archives of Disease in Childhood · doi:10.1136/adc.73.1.25 · Cited by 2,050
Clinical Spectrum of Obesity and Mutations in the Melanocortin 4 Receptor Gene
Farooqi, I. S., Keogh, J. M., Yeo, G. S. H., Lank, E. J., Cheetham, T., & O'Rahilly, S. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa022050 · Cited by 1,778
Self-citationJackson, R. S., Creemers, J. W. M., Ohagi, S., Raffin-Sanson, M.-L., Sanders, L., Montague, C. T., Hutton, J. C., & O'Rahilly, S. (1997) · Nature Genetics · doi:10.1038/ng0797-303 · Cited by 1,153
Self-citationSubtilases: the superfamily of subtilisin-like serine proteases.
Siezen, R. J., & Leunissen, J. A. M. (1997) · Protein Science · doi:10.1002/pro.5560060301 · Cited by 896
The role of gut hormones in glucose homeostasis
Drucker, D. J. (2007) · Journal of Clinical Investigation · doi:10.1172/jci30076 · Cited by 628
Jackson, R. S., Creemers, J. W. M., Farooqi, I. S., Raffin‐Sanson, M., Varró, A., Dockray, G. J., Holst, J. J., Brubaker, P. L., Corvol, P. L., Polonsky, K. S., et al. (2003) · Journal of Clinical Investigation · doi:10.1172/jci200318784 · Cited by 375
Self-citationZhu, X., Zhou, A., Dey, A., Norrbom, C., Carroll, R., Zhang, C., Laurent, V., Lindberg, I., Ugleholdt, R., Holst, J. J., et al. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.162352599 · Cited by 355
Henrich, S., Cameron, A., Bourenkov, G. P., Kiefersauer, R. A., Huber, R., Lindberg, I., Bode, W., & Than, M. E. (2003) · Nature Structural & Molecular Biology · doi:10.1038/nsb941 · Cited by 343
Mutant Neurogenin-3 in Congenital Malabsorptive Diarrhea
Wang, J., Cortina, G. R., Wu, S. V., Tran, R. K., Cho, J., Tsai, M., Bailey, T. J., Jamrich, M., Ament, M. E., Treem, W. R., et al. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa054288 · Cited by 320
O'Rahilly, S., Gray, H., Humphreys, P. J., Krook, A., Polonsky, K. S., White, A., Gibson, S., Taylor, K., & Carr, C. (1995) · New England Journal of Medicine · doi:10.1056/nejm199511233332104 · Cited by 237
Self-citation
Cited by
Sorted by citations
Han, J. C., Lawlor, D. A., & Kimm, S. Y. S. (2010) · The Lancet · doi:10.1016/s0140-6736(10)60171-7 · Cited by 1,401
The biology and therapeutic targeting of the proprotein convertases
Seidah, N. G., & Prat, A. (2012) · Nature Reviews Drug Discovery · doi:10.1038/nrd3699 · Cited by 759
Physiology of Proglucagon Peptides: Role of Glucagon and GLP-1 in Health and Disease
Sandoval, D. A., & D'Alessio, D. A. (2015) · Physiological Reviews · doi:10.1152/physrev.00013.2014 · Cited by 498
Pigeyre, M., Yazdi, F., Kaur, Y., & Meyre, D. (2016) · Clinical Science · doi:10.1042/cs20160136 · Cited by 422
Strawbridge, R. J., Dupuis, J., Prokopenko, I., Barker, A., Ahlqvist, E., Rybin, D., Petrie, J. R., Travers, M. E., Bouatia-Naji, N., Dimas, A. S., et al. (2011) · Diabetes · doi:10.2337/db11-0415 · Cited by 356
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism
Bianco, S. D. C., & Kaiser, U. B. (2009) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2009.177 · Cited by 336
Leptin: a pivotal regulator of human energy homeostasis
Farooqi, I. S., & O’Rahilly, S. (2009) · American Journal of Clinical Nutrition · doi:10.3945/ajcn.2008.26788c · Cited by 341
Self-citationCommon nonsynonymous variants in PCSK1 confer risk of obesity
Benzinou, M., Creemers, J. W. M., Choquet, H., Lobbens, S., Christian Dina, C., Durand, E., Guérardel, A., Boutin, P., Jouret, B., Heude, B., et al. (2008) · Nature Genetics · doi:10.1038/ng.177 · Cited by 299
Self-citationMutations in ligands and receptors of the leptin–melanocortin pathway that lead to obesity
Farooqi, I. S., & O’Rahilly, S. (2008) · Nature Clinical Practice Endocrinology & Metabolism · doi:10.1038/ncpendmet0966 · Cited by 305
Self-citationPOMC: The Physiological Power of Hormone Processing
Harno, E., Ramamoorthy, T. G., Coll, A. P., & White, A. E. (2018) · Physiological Reviews · doi:10.1152/physrev.00024.2017 · Cited by 286
Self-citationGenetic and Epigenetic Causes of Obesity
Thaker, V. (2017) · American Academy of Pediatrics eBooks · doi:10.1542/9781581109405-genetic · Cited by 223
From obesity genetics to the future of personalized obesity therapy
Moustafa, J. S. E.-S., & Froguel, P. (2013) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2013.57 · Cited by 228
Obesity genetics in mouse and human: back and forth, and back again
Yazdi, F., Clee, S. M., & Meyre, D. (2015) · PeerJ · doi:10.7717/peerj.856 · Cited by 203
Genetic approaches to understanding human obesity
Ramachandrappa, S., & Farooqi, I. S. (2011) · Journal of Clinical Investigation · doi:10.1172/jci46044 · Cited by 199
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Artenstein, A. W., & Opal, S. M. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1106700 · Cited by 193
Cangiano, B., Swee, D. S., Quinton, R., & Bonomi, M. (2020) · Human Genetics · doi:10.1007/s00439-020-02147-1 · Cited by 184
PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders
Stijnen, P., Ramos‐Molina, B., O’Rahilly, S., & Creemers, J. W. M. (2016) · Endocrine Reviews · doi:10.1210/er.2015-1117 · Cited by 177
Self-citation60 YEARS OF POMC: Biosynthesis, trafficking, and secretion of pro-opiomelanocortin-derived peptides
Cawley, N. X., Li, Z., & Loh, Y. P. (2016) · Journal of Molecular Endocrinology · doi:10.1530/jme-15-0323 · Cited by 167
Flores-Dorantes, M. T., Díaz‐López, Y. E., & Gutiérrez‐Aguilar, R. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.00863 · Cited by 170
Martín, M. G., Lindberg, I., Solórzano-Vargas, R. S., Wang, J., Avitzur, Y., Bandsma, R., Sokollik, C., Lawrence, S. E., Pickett, L. A., Chen, Z., et al. (2013) · Gastroenterology · doi:10.1053/j.gastro.2013.03.048 · Cited by 163
Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory
Mitchell, A. L., Dwyer, A. A., Pitteloud, N., & Quinton, R. (2011) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2011.03.002 · Cited by 154
Ethnic and population differences in the genetic predisposition to human obesity
Stryjecki, C., Alyass, A., & Meyre, D. (2017) · Obesity Reviews · doi:10.1111/obr.12604 · Cited by 147
Recent progress in the genetics of common obesity
Loos, R. J. F. (2009) · British Journal of Clinical Pharmacology · doi:10.1111/j.1365-2125.2009.03523.x · Cited by 147
Lessons from Extreme Human Obesity: Monogenic Disorders
Ranadive, S. A., & Vaisse, C. (2008) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2008.07.003 · Cited by 141
PCSK1 Variants and Human Obesity
Ramos‐Molina, B., Martin, M., & Lindberg, I. (2016) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2015.12.001 · Cited by 129
Creemers, J. W. M., Choquet, H., Stijnen, P., Vatin, V., Pigeyre, M., Beckers, S., Meulemans, S. M. P., Than, M. E., Yengo, L., Tauber, M., et al. (2011) · Diabetes · doi:10.2337/db11-0305 · Cited by 118
Self-citationMolecular Basis of Obesity: Current Status and Future Prospects
Choquet, H., & Meyre, D. (2011) · Current Genomics · doi:10.2174/138920211795677921 · Cited by 106
The promise of new anti-obesity therapies arising from knowledge of genetic obesity traits
Hinney, A., Körner, A., & Fischer-Posovszky, P. (2022) · Nature Reviews Endocrinology · doi:10.1038/s41574-022-00716-0 · Cited by 101
Alsters, S., Goldstone, A. P., Buxton, J. L., Zekavati, A., Sosinsky, A., Yiorkas, A. M., Holder, S., Klaber, R. E., Bridges, N., van Haelst, M. M., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0131417 · Cited by 104
Pediatric obesity. An introduction
Yanovski, J. A. (2015) · Appetite · doi:10.1016/j.appet.2015.03.028 · Cited by 101
Fairbrother, U. L., Kidd, E., Malagamuwa, T., & Walley, A. J. (2018) · Current Diabetes Reports · doi:10.1007/s11892-018-1053-x · Cited by 104
Pediatric Obesity: Etiology and Treatment
Crocker, M. K., & Yanovski, J. A. (2009) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2009.06.007 · Cited by 97
Genetics, epigenetics and transgenerational transmission of obesity in children
Panera, N., Mandato, C., Crudele, A., Bertrando, S., Vajro, P., & Alisi, A. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.1006008 · Cited by 107
Couture, C., Saveanu, A., Barlier, A., Carel, J., Faßnacht, M., Flück, C. E., Houang, M., Maes, M., Phan-Hug, F., Enjalbert, A., et al. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-1659 · Cited by 91
Knock-out mouse models of proprotein convertases: unique functions or redundancy?
John, W. M. C. (2008) · Frontiers in bioscience · doi:10.2741/3055 · Cited by 84
da Fonseca, A. C. P., Mastronardi, C. A., Johar, A., Arcos‐Burgos, M., & Paz-Filho, G. (2017) · Journal of Diabetes and its Complications · doi:10.1016/j.jdiacomp.2017.04.026 · Cited by 85
What lies ahead for the proprotein convertases?
Seidah, N. G. (2011) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2010.05883.x · Cited by 78
Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency
Frank, G. R., Fox, J. E., Candela, N. M., Jovanović, Z., Bochukova, E. G., Levine, J. J., Papenhausen, P. R., O’Rahilly, S., & Farooqi, I. S. (2013) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2013.04.005 · Cited by 75
Self-citationImpaired Leptin Signalling in Obesity: Is Leptin a New Thermolipokine?
Genchi, V. A., D’Oria, R., Palma, G., Caccioppoli, C., Cignarelli, A., Natalicchio, A., Laviola, L., Giorgino, F., & Perrini, S. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22126445 · Cited by 83
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Philippe, J., Stijnen, P., Meyre, D., Graeve, F. D., Thuillier, D., Delplanque, J., Gyapay, G., Sand, O., Creemers, J. W. M., Froguel, P., et al. (2014) · International Journal of Obesity · doi:10.1038/ijo.2014.96 · Cited by 76
Self-citationZhao, J., & Grant, S. F. A. (2011) · Journal of Obesity · doi:10.1155/2011/845148 · Cited by 75
Central adrenal insufficiency in children and adolescents
Patti, G., Guzzeti, C., Di Iorgi, N., Maria Allegri, A. E., Napoli, F., Loche, S., & Maghnie, M. (2018) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2018.03.012 · Cited by 75
Appetite- and Weight-Regulating Neuroendocrine Circuitry in Hypothalamic Obesity
Gan, H., Cerbone, M., & Dattani, M. (2023) · Endocrine Reviews · doi:10.1210/endrev/bnad033 · Cited by 75
Human adipose dynamics and metabolic health
Feng, B., Zhang, T., & Xu, H. (2013) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.12009 · Cited by 66
Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk study
Kilpeläinen, T. O., Bingham, S. A., Khaw, K., Wareham, N. J., & Loos, R. J. F. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp280 · Cited by 64
Nead, K. T., Li, A., Wehner, M. R., Neupane, B., Gustafsson, S., Butterworth, A. S., Engert, J. C., Davis, A. D., Hegele, R. A., Miller, R., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv097 · Cited by 69
Association of obesity risk SNPs in PCSK1with insulin sensitivity and proinsulin conversion
Heni, M., Haupt, A., Schäfer, S., Ketterer, C., Thamer, C., Machicao, F. E., Stefan, N., Staiger, H., Häring, H., & Fritsche, A. (2010) · BMC Medical Genetics · doi:10.1186/1471-2350-11-86 · Cited by 61
Genetics of the First Seven Proprotein Convertase Enzymes in Health and Disease
Turpeinen, H., Ortutay, Z., & Pesu, M. (2013) · Current Genomics · doi:10.2174/1389202911314050010 · Cited by 62
The Association of Common Variants in PCSK1 With Obesity: A HuGE Review and Meta-Analysis
Stijnen, P., Tuand, K., Varga, T. V., Franks, P. W., Aertgeerts, B., & Creemers, J. W. M. (2014) · American Journal of Epidemiology · doi:10.1093/aje/kwu237 · Cited by 60
Self-citationPépin, L., Colin, E., Tessarech, M., Rouleau, S., Bouhours‐Nouet, N., Bonneau, D., & Coutant, R. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-01854 · Cited by 61
Pediatric Obesity: Etiology and Treatment
Crocker, M. K., & Yanovski, J. A. (2011) · Pediatric Clinics of North America · doi:10.1016/j.pcl.2011.07.004 · Cited by 56
Löffler, D., Behrendt, S., Creemers, J. W. M., Klammt, J., Aust, G., Staník, J., Kieß, W., Kovacs, P. L., & Körner, A. (2016) · Molecular Metabolism · doi:10.1016/j.molmet.2016.12.002 · Cited by 50
Self-citationSaeed, S., Arslan, M., & Froguel, P. (2018) · Obesity · doi:10.1002/oby.22064 · Cited by 54
Genetics: A Starting Point for the Prevention and the Treatment of Obesity
Novelli, G., Cassadonte, C., Sbraccia, P., & Biancolella, M. (2023) · Nutrients · doi:10.3390/nu15122782 · Cited by 54
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Chehab, F. F. (2008) · Endocrinology · doi:10.1210/en.2007-1355 · Cited by 48
Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine
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Obesity in Childhood and Adolescence, Genetic Factors
Kostovski, M., Tasic, V. B., Laban, N., Polenakovic, M. H., Danilovski, D., & Gucev, Z. S. (2017) · PRILOZI · doi:10.2478/prilozi-2018-0013 · Cited by 53
Refaie, S., Gagnon, S., Gagnon, H., Desjardins, R., D’Anjou, F., D’Orléans-Juste, P., Zhu, X., Steiner, D. F., Seidah, N. G., Lazure, C., et al. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.323220 · Cited by 46
Common PCSK1 Haplotypes Are Associated With Obesity in the Chinese Population
Chang, Y., Chiu, Y., Shih, K., Lin, M., Sheu, W. H., Donlon, T. A., Curb, J. D., Jou, Y., Chang, T., Li, H., et al. (2009) · Obesity · doi:10.1038/oby.2009.390 · Cited by 43
Congenital intestinal diarrhoeal diseases: A diagnostic and therapeutic challenge
Posovszky, C. (2016) · Best Practice & Research Clinical Gastroenterology · doi:10.1016/j.bpg.2016.03.004 · Cited by 40
The genetics of monogenic intestinal epithelial disorders
Babcock, S. J., Flores-Marín, D. L., & Thiagarajah, J. R. (2022) · Human Genetics · doi:10.1007/s00439-022-02501-5 · Cited by 40
Grayson, B. E., Kievit, P., Smith, M., & Grove, K. L. (2009) · Frontiers in neuroendocrinology (Print) · doi:10.1016/j.yfrne.2009.10.001 · Cited by 40
Obesidades pediátricas: de la lactancia a la adolescencia
Martos‐Moreno, G. Á., & Argente, J. (2011) · Anales de Pediatría · doi:10.1016/j.anpedi.2011.03.018 · Cited by 40
Characterization of Proprotein Convertases and Their Involvement in Virus Propagation
Garten, W. (2018) · Springer eBooks · doi:10.1007/978-3-319-75474-1_9 · Cited by 39
From Diarrhea to Obesity in Prohormone Convertase 1/3 Deficiency
Bandsma, R., Sokollik, C., Chami, R., Cutz, E., Brubaker, P. L., Hamilton, J. K., Perlman, K., Zlotkin, S. H., Sigalet, D. L., Sherman, P. M., et al. (2013) · Journal of Clinical Gastroenterology · doi:10.1097/mcg.0b013e3182a89fc8 · Cited by 39
Proprotein convertases as therapeutic targets
Chrétien, M., Seidah, N. G., Basak, A., & Mbikay, M. (2008) · Expert Opinion on Therapeutic Targets · doi:10.1517/14728222.12.10.1289 · Cited by 37
Akıncı, A., Türkkahraman, D., Tekedereli, İ., Özer, L., Evren, B., Şahin, İ., Kalkan, T., Çürek, Y., Çamtosun, E., Döğer, E., et al. (2019) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2019.2019.0021 · Cited by 37
Choquet, H., Kasberger, J., Hamidovic, A., & Jorgenson, E. (2013) · PLoS ONE · doi:10.1371/journal.pone.0057857 · Cited by 37
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Translating genomics to the clinical diagnosis of disorders/differences of sex development
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Peptide Biosynthesis: Prohormone Convertases 1/3 and 2
Hoshino, A., & Lindberg, I. (2012) · Colloquium Series on Neuropeptides · doi:10.4199/c00050ed1v01y201112npe001 · Cited by 34
Oleari, R., Massa, V., Cariboni, A. M., & Lettieri, A. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22179425 · Cited by 36
Genetic forms of neurohypophyseal diabetes insipidus
Rutishauser, J., Spiess, M., & Kopp, P. A. (2016) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2016.02.008 · Cited by 34
Yourshaw, M., Solórzano-Vargas, R. S., Pickett, L. A., Lindberg, I., Wang, J., Cortina, G. R., Pawlikowska‐Haddal, A., Baron, H. I., Venick, R. S., Nelson, S. F., et al. (2013) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/mpg.0b013e3182a8ae6c · Cited by 34
Wang, L., Sui, L., Panigrahi, S. K., Meece, K., Xin, Y., Kim, J., Gromada, J., Doege, C. A., Wardlaw, S. L., Egli, D. M., et al. (2017) · Stem Cell Reports · doi:10.1016/j.stemcr.2016.12.021 · Cited by 33
Impact of Genetic Variations and Epigenetic Mechanisms on the Risk of Obesity
Chiurazzi, M., Cozzolino, M., Orsini, R. C., Maro, M. D., Minno, M. N. D. D., & Colantuoni, A. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21239035 · Cited by 35
Garruti, G., Cotecchia, S., Giampetruzzi, F., Giorgino, F., & GIORGINO, R. (2008) · PubMed · Cited by 32
Genetic aspects of human obesity
Larder, R., Lim, C. T., & Coll, A. P. (2014) · Handbook of clinical neurology · doi:10.1016/b978-0-444-59602-4.00006-x · Cited by 32
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Qi, Q., Li, H., Loos, R. J. F., Liu, C., Hu, F. B., Wu, H., Yu, Z., & Xu, L. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010590 · Cited by 30
Functional Consequences of a Novel Variant of PCSK1
Pickett, L. A., Yourshaw, M., Albornoz, V., Chen, Z., Solórzano-Vargas, R. S., Nelson, S. F., Martı́n, M. G., & Lindberg, I. (2013) · PLoS ONE · doi:10.1371/journal.pone.0055065 · Cited by 29
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Loss of Agouti-Related Peptide Does Not Significantly Impact the Phenotype of Murine POMC Deficiency
Corander, M. P., Rimmington, D., Challis, B., O’Rahilly, S., & Coll, A. P. (2011) · Endocrinology · doi:10.1210/en.2010-1450 · Cited by 29
Self-citationPCSK1 rs6232 Is Associated with Childhood and Adult Class III Obesity in the Mexican Population
Villalobos‐Comparán, M., Villamil‐Ramírez, H., Villarreal-Molina, M. T., Larrieta‐Carrasco, E., León‐Mimila, P., Romero‐Hidalgo, S., Jacobo‐Albavera, L., Liceaga-Fuentes, A. E., Campos‐Pérez, F., López-Contreras, B. E., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0039037 · Cited by 28
Fitch, A., Malhotra, S., & Conroy, R. (2024) · Obesity Pillars · doi:10.1016/j.obpill.2024.100110 · Cited by 30
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Vivoli, M., Caulfield, T. R., Martínez‐Mayorga, K., Johnson, A. T., Jiao, G., & Lindberg, I. (2011) · Molecular Pharmacology · doi:10.1124/mol.111.077040 · Cited by 26
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Metadata
- Authors
- Farooqi, I. S., Volders, K., Stanhope, R., Heuschkel, R., White, A., Lank, E., Keogh, J., O’Rahilly, S., & Creemers, J. W. M.
- Affiliations
- University of Cambridge (GB)
- KU Leuven (BE)
- Great Ormond Street Hospital (GB)
- The Royal Free Hospital (GB)
- University of Manchester (GB)
- Corresponding author
- Farooqi, I. Sadaf
- ORCID
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2007-09-01
- Volume
- 92
- Issue
- 9
- Pages
- 3369-3373
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2160679927
- Cited by
- 218
- References
- 31
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 6 · 2023: 14 · 2022: 11 · 2021: 11 · 2020: 9 · 2019: 6 · 2018: 11 · 2017: 11 · 2016: 13 · 2015: 15 · 2014: 15 · 2013: 17 · 2012: 17
- FWCI
- 4.76
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- Funders
- Wellcome Trust (068086)
- Topics
- Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Regulation of Appetite and Obesity
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pancreatic function and diabetes
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuropeptides and Animal Physiology
- Keywords
- prohormone convertase 1/3, hyperphagia, early-onset obesity, missense mutations, consanguinity, diarrhea, enzyme activity, dietary intake, childhood obesity
- MeSH terms
- Cells, Cultured, Child, Homozygote, Humans, Hyperphagia, Male, Obesity, Transfection, Age of Onset, Mutation, Missense, Proprotein Convertase 1
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