pericentrin

12/19/2021 - "A genetic study identified a mutation in both alleles of the pericentrin (PCNT) gene, enabling the diagnosis of microcephalic osteodysplastic primordial dwarfism type II. CONCLUSIONS This case highlights the importance of identifying the cause of short stature in children and genetic syndromes that may be linked with other abnormalities. "
01/01/2021 - "Previous studies have shown that MOPD II is associated with mutations in the pericentrin (PCNT) gene. "
07/31/2023 - "Autosomal recessive biallelic loss-of-function genomic variants in the centrosomal pericentrin (PCNT) gene on chromosome 21q22 cause MOPDII. "
01/01/2021 - "We evaluated the clinical features of a 10-year and 7-month-old Chinese girl with MOPD II. Subsequently, next-generation sequencing and flow cytometry were performed to investigate genetic characteristics and the expression of PCNT protein respectively. "
01/01/2019 - "Microcephalic osteodysplastic primordial dwarfism type II syndrome is a rare, autosomal recessive disease that occurs as a result of the mutations in the pericentrin (PCNT) gene that are responsible for cell cycle and division. "

09/01/2010 - "Association study between the pericentrin (PCNT) gene and schizophrenia."
04/01/2010 - "These findings indicate that pericentrin is required for proper migration of olfactory bulb interneurons and provide a developmental basis for association of pericentrin function with interneuron defects in human schizophrenia."
01/01/2020 - "As pericentrin (PCNT) binds to disruption-in-schizophrenia 1 (DISC1) and is a risk factor for many mental illnesses, we aimed to investigate the effect of PCNT on TS in the Chinese Han population. "
05/01/2009 - "Pericentrin (PCNT) interacts with disruption-in-schizophrenia 1 (DISC1), a known genetic risk factor for schizophrenia, bipolar disorder and major depressive disorder (MDD). "
10/05/2009 - "Association studies and gene expression analyses of the DISC1-interacting molecules, pericentrin 2 (PCNT2) and DISC1-binding zinc finger protein (DBZ), with schizophrenia and with bipolar disorder."

04/01/2008 - "Gene and expression analyses reveal enhanced expression of pericentrin 2 (PCNT2) in bipolar disorder."
10/05/2009 - "Previously, we identified pericentrin 2 (PCNT2) and DISC1-binding zinc finger protein (DBZ) as binding partners of DISC1; further, we observed elevated expression of PCNT2 in the postmortem brains and in the lymphocytes of bipolar disorder patients, compared to controls. "
05/01/2009 - "Pericentrin (PCNT) interacts with disruption-in-schizophrenia 1 (DISC1), a known genetic risk factor for schizophrenia, bipolar disorder and major depressive disorder (MDD). "
10/05/2009 - "Association studies and gene expression analyses of the DISC1-interacting molecules, pericentrin 2 (PCNT2) and DISC1-binding zinc finger protein (DBZ), with schizophrenia and with bipolar disorder."

01/01/2015 - "The aim of this study was to investigate the regulating effect of pericentrin (PCNT) on insulin secretion in the development of insulin resistance and to determine the underlying mechanism. "
03/01/2011 - "Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes."
03/01/2011 - "We thus set out to determine the prevalence of diabetes and insulin resistance among patients with PCNT defects and examined the effects of pericentrin depletion on insulin action using 3T3-L1 adipocytes as a model system. "

01/01/2013 - "BWC specimens were obtained from all patients during transurethral resection of bladder tumor (TURBT), and CA was evaluated by immunofluorescence staining using a pericentrin polyclonal antibody. "
08/15/2008 - "PKCbetaII inhibition reduced the level and mislocalization of pericentrin and normalized microtubule organization in the tumor endothelial cells. "
11/19/2004 - "Abnormal centrosomal structures similar to those occurring in human cancers are induced in fission yeast by overexpression of the pericentrin homolog Pcp1p. "
09/01/1998 - "In addition, virtually all pericentrin-staining structures in tumor cells nucleated microtubules, and they participated in formation of disorganized mitotic spindles, upon which chromosomes were missegregated. "
08/15/2008 - "We found that pericentrin is up-regulated in human tumor endothelium compared with endothelium adjacent to normal glands in tissues from prostate cancer patients. "