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1990 1
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369 results

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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. ...Increasing numbers of genetic diagnoses of infants with persistent diarrhea has recently led to the finding of many novel PCSK1 mutations. PC …
PCSK1, encoding prohormone convertase 1/3 (PC1/3), was one of the first genes linked to monogenic early-onset obesity. ...Increasing …
PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders.
Stijnen P, Ramos-Molina B, O'Rahilly S, Creemers JW. Stijnen P, et al. Endocr Rev. 2016 Aug;37(4):347-71. doi: 10.1210/er.2015-1117. Epub 2016 May 17. Endocr Rev. 2016. PMID: 27187081 Review.
Prohormone convertase 1/3, encoded by the PCSK1 gene, is a serine endoprotease that is involved in the processing of a variety of proneuropeptides and prohormones. ...Recently, more common variants in the PCSK1 gene have been found to be associated with alterations …
Prohormone convertase 1/3, encoded by the PCSK1 gene, is a serine endoprotease that is involved in the processing of a variety of pro …
Rare Heterozygous PCSK1 Variants in Human Obesity: The Contribution of the p.Y181H Variant and a Literature Review.
Van Dijck E, Beckers S, Diels S, Huybrechts T, Verrijken A, Van Hoorenbeeck K, Verhulst S, Massa G, Van Gaal L, Van Hul W. Van Dijck E, et al. Genes (Basel). 2022 Sep 27;13(10):1746. doi: 10.3390/genes13101746. Genes (Basel). 2022. PMID: 36292633 Free PMC article. Review.
Recently, it was reported that heterozygous PCSK1 variants, causing partial PC1/3 deficiency, result in a significant increased risk for obesity. ...Furthermore, recent meta-analyses have only indicated a robust association for scarce disruptive heterozygous PCSK1 v …
Recently, it was reported that heterozygous PCSK1 variants, causing partial PC1/3 deficiency, result in a significant increased risk …
Setmelanotide: First Approval.
Markham A. Markham A. Drugs. 2021 Feb;81(3):397-403. doi: 10.1007/s40265-021-01470-9. Drugs. 2021. PMID: 33638809 Review.
Setmelanotide (IMCIVREE, Rhythm Pharmaceuticals) is a melanocortin-4 (MC4) receptor agonist developed for the treatment of obesity arising from proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency. The drug …
Setmelanotide (IMCIVREE, Rhythm Pharmaceuticals) is a melanocortin-4 (MC4) receptor agonist developed for the treatment of obesity arising f …
Hyperphagia and Obesity in Prader-Willi Syndrome: PCSK1 Deficiency and Beyond?
Ramos-Molina B, Molina-Vega M, Fernández-García JC, Creemers JW. Ramos-Molina B, et al. Genes (Basel). 2018 Jun 7;9(6):288. doi: 10.3390/genes9060288. Genes (Basel). 2018. PMID: 29880780 Free PMC article. Review.
The recent observation that PCSK1 is downregulated in a model of human PWS suggests that overlapping pathways are affected. In this review we will not only discuss the mechanisms by which PWS and PCSK1 deficiency could lead to hyperphagia but also the therapeutic in …
The recent observation that PCSK1 is downregulated in a model of human PWS suggests that overlapping pathways are affected. In this r …
Genetics of Obesity in Humans: A Clinical Review.
Mahmoud R, Kimonis V, Butler MG. Mahmoud R, et al. Int J Mol Sci. 2022 Sep 20;23(19):11005. doi: 10.3390/ijms231911005. Int J Mol Sci. 2022. PMID: 36232301 Free PMC article. Review.
Leptin (LEP), the leptin receptor (LEPR), proopiomelanocortin (POMC), prohormone convertase 1 (PCSK1), the melanocortin 4 receptor (MC4R), single-minded homolog 1 (SIM1), brain-derived neurotrophic factor (BDNF), and the neurotrophic tyrosine kinase receptor type 2 gene (N …
Leptin (LEP), the leptin receptor (LEPR), proopiomelanocortin (POMC), prohormone convertase 1 (PCSK1), the melanocortin 4 receptor (M …
The association of common variants in PCSK1 with obesity: a HuGE review and meta-analysis.
Stijnen P, Tuand K, Varga TV, Franks PW, Aertgeerts B, Creemers JW. Stijnen P, et al. Am J Epidemiol. 2014 Dec 1;180(11):1051-65. doi: 10.1093/aje/kwu237. Epub 2014 Oct 29. Am J Epidemiol. 2014. PMID: 25355447 Review.
Pooled estimates were calculated for overall and subgroup analyses. This meta-analysis confirmed the association of PCSK1 SNPs with obesity and provides the first evidence that the association between PCSK1 rs6232 and obesity is stronger for childhood obesity than f …
Pooled estimates were calculated for overall and subgroup analyses. This meta-analysis confirmed the association of PCSK1 SNPs with o …
Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study.
Folon L, Baron M, Toussaint B, Vaillant E, Boissel M, Scherrer V, Loiselle H, Leloire A, Badreddine A, Balkau B, Charpentier G, Franc S, Marre M, Aboulouard S, Salzet M, Canouil M, Derhourhi M, Froguel P, Bonnefond A. Folon L, et al. Lancet Diabetes Endocrinol. 2023 Mar;11(3):182-190. doi: 10.1016/S2213-8587(22)00392-8. Lancet Diabetes Endocrinol. 2023. PMID: 36822744 Free article.
The effect of each cluster of PCSK1 variants on obesity was assessed using the adjusted mixed-effects score test. ...Clusters of PCSK1 variants with partial or neutral effect on PC1/3 activity did not have an effect on obesity or overweight and on BMI. ...
The effect of each cluster of PCSK1 variants on obesity was assessed using the adjusted mixed-effects score test. ...Clusters of P …
PCSK1 Overexpression in Rectal Cancer Correlates with Poor Response to Preoperative Chemoradiotherapy and Prognosis.
Chou CL, Chen TJ, Lin CY, Lee SW, Wang SC, Chu SS, Yang CC. Chou CL, et al. Onco Targets Ther. 2020 Apr 15;13:3141-3150. doi: 10.2147/OTT.S243750. eCollection 2020. Onco Targets Ther. 2020. PMID: 32346297 Free PMC article.
This study aims to investigate the prognostic value of PCSK1 expression in rectal cancer patients who underwent neoadjuvant CCRT. ...PCSK1 overexpression remained an independent prognostic factor of lower disease-specific survival (p = 0.003; hazard ratio, 5.478) in …
This study aims to investigate the prognostic value of PCSK1 expression in rectal cancer patients who underwent neoadjuvant CCRT. ... …
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. ...CONCLUSION: We described a homozygous nonsense pathogenic variant (NM_000439.4) c. 595 C>T in exon 5 of PCSK1 in a boy with congenita …
ISSUE: To report a homozygous pathogenic variant in PCSK1 in a boy affected with proprotein convertase 1/3 (PC1/3) deficiency. ...CON …
369 results