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Quoted phrase not found in phrase index: "Obesity due to prohormone convertase I deficiency"
Page 1
PCSK1 Variants and Human Obesity.
Ramos-Molina B, Martin MG, Lindberg I. Ramos-Molina B, et al. Prog Mol Biol Transl Sci. 2016;140:47-74. doi: 10.1016/bs.pmbts.2015.12.001. Epub 2016 Jan 29. Prog Mol Biol Transl Sci. 2016. PMID: 27288825 Free PMC article. Review.
PCSK1, encoding prohormone convertase 1/3 (PC1/3), was one of the first genes linked to monogenic early-onset obesity. ...A better understanding of these molecular and cellular pathologies may illuminate possible treatments for the complex endocrinopathy of P …
PCSK1, encoding prohormone convertase 1/3 (PC1/3), was one of the first genes linked to monogenic early-onset obesity. …
Relating Lipoprotein(a) Concentrations to Cardiovascular Event Risk After Acute Coronary Syndrome: A Comparison of 3 Tests.
Szarek M, Reijnders E, Jukema JW, Bhatt DL, Bittner VA, Diaz R, Fazio S, Garon G, Goodman SG, Harrington RA, Ruhaak LR, Schwertfeger M, Tsimikas S, White HD, Steg PG, Cobbaert C, Schwartz GG; ODYSSEY OUTCOMES Investigators. Szarek M, et al. Circulation. 2024 Jan 16;149(3):192-203. doi: 10.1161/CIRCULATIONAHA.123.066398. Epub 2023 Aug 26. Circulation. 2024. PMID: 37632469 Free PMC article.
BACKGROUND: Lipoprotein(a) is a risk factor for cardiovascular events and modifies the benefit of PCSK9 (proprotein convertase subtilisin/kexin type 9) inhibitors. Lipoprotein(a) concentration can be measured with immunoassays reporting mass or molar concentration o …
BACKGROUND: Lipoprotein(a) is a risk factor for cardiovascular events and modifies the benefit of PCSK9 (proprotein convertase …
Estimating the effect of lipid-lowering agents on novel subtypes of adult-onset diabetes.
Ye J, Guo K, Li J, Li X, Zhou Z, Yang L. Ye J, et al. Diabetes Metab Res Rev. 2024 May;40(4):e3793. doi: 10.1002/dmrr.3793. Diabetes Metab Res Rev. 2024. PMID: 38661109
AIMS: The aims of the present study were to assess the effects of lipid-lowering drugs [HMG-CoA reductase inhibitors, proprotein convertase subtilisin/kexin type 9 inhibitors, and Niemann-Pick C1-Like 1 (NPC1L1) inhibitors] on novel subtypes of adult-onset diabetes …
AIMS: The aims of the present study were to assess the effects of lipid-lowering drugs [HMG-CoA reductase inhibitors, proprotein c …
Prader-Willi Syndrome and PCSK1 mutation: a novel presentation of combined syndromic and monogenic obesity.
Kostopoulou E, Spilioti DX, Pantzaris ND, Spiliotis BE. Kostopoulou E, et al. Eur Rev Med Pharmacol Sci. 2022 Apr;26(7):2437-2442. doi: 10.26355/eurrev_202204_28478. Eur Rev Med Pharmacol Sci. 2022. PMID: 35442499 Free article.
PATIENTS AND METHODS: A 27-year-old Greek man with PWS presented to the Adult Endocrine Clinic with morbid obesity and hyperphagia. He also had obstructive sleep apnea, growth hormone deficiency, gonadal failure and metabolic disturbances. ...
PATIENTS AND METHODS: A 27-year-old Greek man with PWS presented to the Adult Endocrine Clinic with morbid obesity and hyperphagia. H …
A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review.
Pépin L, Colin E, Tessarech M, Rouleau S, Bouhours-Nouet N, Bonneau D, Coutant R. Pépin L, et al. J Clin Endocrinol Metab. 2019 Apr 1;104(4):985-993. doi: 10.1210/jc.2018-01854. J Clin Endocrinol Metab. 2019. PMID: 30383237 Review.
ISSUE: To report a homozygous pathogenic variant in PCSK1 in a boy affected with proprotein convertase 1/3 (PC1/3) deficiency. CASE DESCRIPTION AND LITERATURE REVIEW: A male infant born to consanguineous Turkish parents presented in the first week of life wit …
ISSUE: To report a homozygous pathogenic variant in PCSK1 in a boy affected with proprotein convertase 1/3 (PC1/3) deficien …
Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.
Ayers KL, Glicksberg BS, Garfield AS, Longerich S, White JA, Yang P, Du L, Chittenden TW, Gulcher JR, Roy S, Fiedorek F, Gottesdiener K, Cohen S, North KE, Schadt EE, Li SD, Chen R, Van der Ploeg LHT. Ayers KL, et al. J Clin Endocrinol Metab. 2018 Jul 1;103(7):2601-2612. doi: 10.1210/jc.2018-00258. J Clin Endocrinol Metab. 2018. PMID: 29726959 Free PMC article.
Loss of function (LoF) mutations in the MC4R pathway, including mutations in the pro-opiomelanocortin (POMC), prohormone convertase 1 (PCSK1), leptin receptor (LEPR), or MC4R genes, have been shown to cause early-onset severe obesity. ...RESULTS: We predict ~ …
Loss of function (LoF) mutations in the MC4R pathway, including mutations in the pro-opiomelanocortin (POMC), prohormone convertas …
Rarer syndromes characterized by hypogonadotropic hypogonadism.
Aminzadeh M, Kim HG, Layman LC, Cheetham TD. Aminzadeh M, et al. Front Horm Res. 2010;39:154-167. doi: 10.1159/000312701. Epub 2010 Apr 8. Front Horm Res. 2010. PMID: 20389093
Hypogonadotropic hypogonadism (HH) secondary to hypothalamic gonadotropin-releasing hormone deficiency is a notable feature of a number of rare syndromes, where unlike idiopathic (isolated) HH, other endocrinopathies may also be apparent. ...In some instances, establishing …
Hypogonadotropic hypogonadism (HH) secondary to hypothalamic gonadotropin-releasing hormone deficiency is a notable feature of a numb …
Vitamin D and the vascular sensitivity to angiotensin II in obese Caucasians with hypertension.
Vaidya A, Forman JP, Williams JS. Vaidya A, et al. J Hum Hypertens. 2011 Nov;25(11):672-8. doi: 10.1038/jhh.2010.110. Epub 2010 Dec 2. J Hum Hypertens. 2011. PMID: 21124341 Free PMC article.
Obesity and vitamin D deficiency have both been linked to augmented activity of the tissue renin-angiotensin system (RAS). ...These findings demonstrate a positive association between 25(OH)D and the vascular sensitivity to AngII in obese hypertensives, and f …
Obesity and vitamin D deficiency have both been linked to augmented activity of the tissue renin-angiotensin system (RAS). ... …
Platelet magnesium depletion in normotensive and hypertensive obese subjects: the role of salt-regulating hormones and catecholamines.
Corica F, Corsonello A, Buemi M, De Gregorio T, Malara A, Mauro VN, Macaione S, Ientile R. Corica F, et al. Magnes Res. 1999 Dec;12(4):287-96. Magnes Res. 1999. PMID: 10612086
Plasma aldosterone and renin concentrations were significantly higher in obese subjects with respect to controls. Moreover, plasma norepinephrine and epinephrine levels were significantly increased in obese subjects, and plasma norepinephrine was higher in HT-Ob whe …
Plasma aldosterone and renin concentrations were significantly higher in obese subjects with respect to controls. Moreover, plasma no …
Early Clinical Diagnosis of PC1/3 Deficiency in a Patient With a Novel Homozygous PCSK1 Splice-Site Mutation.
Härter B, Fuchs I, Müller T, Akbulut UE, Cakir M, Janecke AR. Härter B, et al. J Pediatr Gastroenterol Nutr. 2016 Apr;62(4):577-80. doi: 10.1097/MPG.0000000000001018. J Pediatr Gastroenterol Nutr. 2016. PMID: 26488123
Autosomal recessive proprotein convertase 1/3 (PC1/3) deficiency, caused by mutations in the PCSK1 gene, is characterized by severe congenital malabsorptive diarrhea, early-onset obesity, and certain endocrine abnormalities. We suspected PC1/3 defic …
Autosomal recessive proprotein convertase 1/3 (PC1/3) deficiency, caused by mutations in the PCSK1 gene, is characteriz …
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