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202 results

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Page 1
Characterization of PCLO Gene in Amazonian Native American Populations.
Cohen-Paes AN, de Carvalho DC, Pastana LF, Dobbin EAF, Moreira FC, de Souza TP, Fernandes MR, Leal DFDVB, de Sá RBA, de Alcântara AL, Guerreiro JF, Ribeiro-Dos-Santos Â, Dos Santos SEB, de Assumpção PP, Dos Santos NPC. Cohen-Paes AN, et al. Genes (Basel). 2022 Mar 11;13(3):499. doi: 10.3390/genes13030499. Genes (Basel). 2022. PMID: 35328053 Free PMC article.
Genetic variations in PCLO have been associated with different pathologies in global literature, but there are no data regarding this gene in Native American populations. ...We investigated 18 genetic variants in the PCLO gene in Amazonian indigenous and compared ou …
Genetic variations in PCLO have been associated with different pathologies in global literature, but there are no data regarding this …
PCLO rs2522833-mediated gray matter volume reduction in patients with drug-naive, first-episode major depressive disorder.
Igata R, Katsuki A, Kakeda S, Watanabe K, Igata N, Hori H, Konishi Y, Atake K, Kawasaki Y, Korogi Y, Yoshimura R. Igata R, et al. Transl Psychiatry. 2017 May 30;7(5):e1140. doi: 10.1038/tp.2017.100. Transl Psychiatry. 2017. PMID: 28556829 Free PMC article.
Major depressive disorder (MDD) has been linked to differences in the volume of certain areas of the brain and to variants in the piccolo presynaptic cytomatrix protein (PCLO), but the relationship between PCLO and brain morphology has not been studied. A single-nuc …
Major depressive disorder (MDD) has been linked to differences in the volume of certain areas of the brain and to variants in the piccolo pr …
PCLO rs2522833 impacts HPA system activity in healthy young adults.
Kuehner C, Huffziger S, Witt SH, Rietschel M. Kuehner C, et al. Transl Psychiatry. 2011 May 31;1(5):e10. doi: 10.1038/tp.2011.11. Transl Psychiatry. 2011. PMID: 22832399 Free PMC article.
Recent genetic studies showed evidence for a role of the single-nucleotide polymorphism rs2522833 within the PCLO gene in the etiology of major depression, and rs2522833 has been shown to modulate hypothalamic pituitary adrenal (HPA) axis activity during antidepressant tre …
Recent genetic studies showed evidence for a role of the single-nucleotide polymorphism rs2522833 within the PCLO gene in the etiolog …
PCLO rs2522833 modulates HPA system response to antidepressant treatment in major depressive disorder.
Schuhmacher A, Mössner R, Höfels S, Pfeiffer U, Guttenthaler V, Wagner M, Schwab SG, Maier W, Zobel A. Schuhmacher A, et al. Int J Neuropsychopharmacol. 2011 Mar;14(2):237-45. doi: 10.1017/S1461145710000854. Epub 2010 Aug 12. Int J Neuropsychopharmacol. 2011. PMID: 20701824 Free article. Clinical Trial.
Variant rs2522833 of the Piccolo-encoding gene PCLO has recently been found to be associated with major depressive disorder (MDD). PCLO encodes a presynaptic cytomatrix protein which influences monoamine neurotransmitter release. ...While we did not find an associat …
Variant rs2522833 of the Piccolo-encoding gene PCLO has recently been found to be associated with major depressive disorder (MDD). …
Loss of PCLO function underlies pontocerebellar hypoplasia type III.
Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH. Ahmed MY, et al. Neurology. 2015 Apr 28;84(17):1745-50. doi: 10.1212/WNL.0000000000001523. Epub 2015 Apr 1. Neurology. 2015. PMID: 25832664 Free PMC article.
RNA sequencing data of human fetal brain showed that PCLO was moderately expressed in the developing cerebral cortex. CONCLUSIONS: Here, we show that a homozygous, nonsense PCLO mutation underlies the autosomal recessive neurodegenerative disorder, PCH3. ...Our find …
RNA sequencing data of human fetal brain showed that PCLO was moderately expressed in the developing cerebral cortex. CONCLUSIONS: He …
PCLO gene: its role in vulnerability to major depressive disorder.
Minelli A, Scassellati C, Cloninger CR, Tessari E, Bortolomasi M, Bonvicini C, Giacopuzzi M, Frisoni GB, Gennarelli M. Minelli A, et al. J Affect Disord. 2012 Aug;139(3):250-5. doi: 10.1016/j.jad.2012.01.028. Epub 2012 Mar 3. J Affect Disord. 2012. PMID: 22386049
BACKGROUND: A recent genome-wide association study on Major Depressive Disorder (MDD) identified a specific association with a non-synonymous polymorphism (rs2522833) of a gene encoding the presynaptic protein piccolo (PCLO). A high percentage of patients who develop MDD h …
BACKGROUND: A recent genome-wide association study on Major Depressive Disorder (MDD) identified a specific association with a non-synonymou …
The PCLO gene and depressive disorders: replication in a population-based study.
Hek K, Mulder CL, Luijendijk HJ, van Duijn CM, Hofman A, Uitterlinden AG, Tiemeier H. Hek K, et al. Hum Mol Genet. 2010 Feb 15;19(4):731-4. doi: 10.1093/hmg/ddp529. Epub 2009 Nov 26. Hum Mol Genet. 2010. PMID: 19942622
We aimed to validate the association of single-nucleotide polymorphism (SNP) rs2522833 in the PCLO gene with depression in the Rotterdam Study, a prospective population-based cohort of elderly persons. ...In conclusion, this study provides additional evidence for an associ …
We aimed to validate the association of single-nucleotide polymorphism (SNP) rs2522833 in the PCLO gene with depression in the Rotter …
Isoform-level transcriptome-wide association uncovers genetic risk mechanisms for neuropsychiatric disorders in the human brain.
Bhattacharya A, Vo DD, Jops C, Kim M, Wen C, Hervoso JL, Pasaniuc B, Gandal MJ. Bhattacharya A, et al. Nat Genet. 2023 Dec;55(12):2117-2128. doi: 10.1038/s41588-023-01560-2. Epub 2023 Nov 30. Nat Genet. 2023. PMID: 38036788 Free PMC article.
We illustrate multiple isoTWAS associations undetectable at the gene-level, prioritizing isoforms of AKT3, CUL3 and HSPD1 in schizophrenia and PCLO with multiple disorders. Results highlight the importance of incorporating isoform-level resolution within integrative approa …
We illustrate multiple isoTWAS associations undetectable at the gene-level, prioritizing isoforms of AKT3, CUL3 and HSPD1 in schizophrenia a …
Genome-Wide Significance for PCLO as a Gene for Major Depressive Disorder.
Mbarek H, Milaneschi Y, Hottenga JJ, Ligthart L, de Geus EJC, Ehli EA, Willemsen G, Davies GE, Smit JH, Boomsma DI, Penninx BWJH. Mbarek H, et al. Twin Res Hum Genet. 2017 Aug;20(4):267-270. doi: 10.1017/thg.2017.30. Epub 2017 May 25. Twin Res Hum Genet. 2017. PMID: 28540843
In an analysis comparing 1,942 cases with lifetime diagnosis of MDD and 4,565 controls, PCLO showed a genome-wide significant association with MDD at SNP (rs2715157, p = 2.91 10-8) and gene-based (p = 1.48 10-7) level. Our results confirm the potential role of the PCLO
In an analysis comparing 1,942 cases with lifetime diagnosis of MDD and 4,565 controls, PCLO showed a genome-wide significant associa …
PCLO variants are nominally associated with early-onset type 2 diabetes and insulin resistance in Pima Indians.
Ma L, Hanson RL, Que LN, Guo Y, Kobes S, Bogardus C, Baier LJ. Ma L, et al. Diabetes. 2008 Nov;57(11):3156-60. doi: 10.2337/db07-1800. Epub 2008 Jul 22. Diabetes. 2008. PMID: 18647954 Free PMC article.
OBJECTIVE: A prior genome-wide association (GWA) study in Pima Indians identified variants within PCLO that were associated with early-onset type 2 diabetes. PCLO encodes a presynaptic cytomatrix protein that functions as a Ca(2+) sensor that may be involved in insu …
OBJECTIVE: A prior genome-wide association (GWA) study in Pima Indians identified variants within PCLO that were associated with earl …
202 results