PCNT

Last update 23 Jan 2025

Basic Info

Synonyms

KEN, Kendrin, KIAA0402

+ [7]

Introduction

Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome.

100 Clinical Results associated with PCNT

100 Translational Medicine associated with PCNT

0 Patents (Medical) associated with PCNT

477

Literatures (Medical) associated with PCNT

01 Feb 2025·Genetics in Medicine

High yield of monogenic short stature in children from Kurdistan, Iraq: A genetic testing algorithm for consanguineous families

Article

Author: Pruhova, Stepanka ; Elblova, Lenka ; Lebl, Jan ; Plachy, Lukas ; Tayeb, Tara Hussein ; Amaratunga, Shenali Anne ; Drabova, Jana ; Dusatkova, Petra ; Hussein Tayeb, Tara

PURPOSEGenetic testing in consanguineous families advances the general comprehension of pathophysiological pathways. However, short stature (SS) genetics remain unexplored in a defined consanguineous cohort. This study examines a unique pediatric cohort from Sulaimani, Iraq, aiming to inspire a genetic testing algorithm for similar populations.METHODSAmong 280 SS referrals from 2018-2020, 64 children met inclusion criteria (from consanguineous families; height ≤ -2.25 SD), 51 provided informed consent (30 females; 31 syndromic SS) and underwent investigation, primarily via exome sequencing. Prioritized variants were evaluated by the American College of Medical Genetics and Genomics standards. A comparative analysis was conducted by juxtaposing our findings against published gene panels for SS.RESULTSA genetic cause of SS was elucidated in 31 of 51 (61%) participants. Pathogenic variants were found in genes involved in the GH-IGF-1 axis (GHR and SOX3), thyroid axis (TSHR), growth plate (CTSK, COL1A2, COL10A1, DYM, FN1, LTBP3, MMP13, NPR2, and SHOX), signal transduction (PTPN11), DNA/RNA replication (DNAJC21, GZF1, and LIG4), cytoskeletal structure (CCDC8, FLNA, and PCNT), transmembrane transport (SLC34A3 and SLC7A7), enzyme coding (CYP27B1, GALNS, and GNPTG), and ciliogenesis (CFAP410). Two additional participants had Silver-Russell syndrome and 1 had del22q.11.21. Syndromic SS was predictive in identifying a monogenic condition. Using a gene panel would yield positive results in only 10% to 33% of cases.CONCLUSIONA tailored testing strategy is essential to increase diagnostic yield in children with SS from consanguineous populations.

01 Jan 2025·Advanced Biology

PAK4 is Required for Meiotic Resumption, Spindle Assembly, and Cortical Migration in Mouse Oocytes During Meiotic Maturation

Article

Author: Lou, Shuo ; Ma, Wei ; Xu, Xiangning ; Song, Ke ; Tian, Ying ; Huang, Ziqi ; Zhang, Ningning ; Wang, Bicheng ; Kang, Jingyi ; Zhang, Jiaqi ; Chen, Dandan ; Yang, Xiaokui ; Li, Jingyu

AbstractOocyte meiotic errors can cause infertility, miscarriage, and birth defects. Here the role and the underlying mechanism of p21 activated kinase 4 (PAK4) in mouse oocyte meiosis is evaluated. It is found that PAK4 expression and its phosphorylation are detected in high level at germinal vesicle (GV) stage, and gradually decreased after meiotic resumption in oocytes. PAK4 has direct physical interaction with both mitogen‐activated protein kinases 1/2 (MEK1/2) and Paxillin, they are colocalized on the spindle structure during metaphases I and II. Phospho‐PAK4 is distributed beneath the cytoplasmic membrane and on the chromosomes, and colocalized with the microtubule organizing center (MTOC) proteins, Pericentrin and γ‐tubulin, as well as phosphor‐MEK1/2 and phosphor‐Paxillin on spindle poles. PAK4 inhibition by chemical inhibitor LCH‐7749944, specific Pak4 morpholino oligo or the dominant negative mutant Pak4K350, 351 M influence the meiotic resumption, spindle assembly and its cortical migration, and associated with the downregulation in the dephosphorylation of cyclin dependent kinase 1 (CDK1) and the levels of Cyclin B1, MEK1/2, Paxillin, g‐tubulin, acetylated a‐tubulin, Arp3, and Cofilin phosphorylation in oocytes. In sum, PAK4 functions to sustain the rational levels of Cyclin B1, MEK1/2, Paxillin, y‐tubulin, acetylated a‐tubulin, Arp3, and phosphor‐Cofilin in mouse oocytes, thereby promotes the meiotic resumption, spindle assembly, and migration during meiotic maturation.

01 Nov 2024·Environmental Toxicology

Acrylamide Exposure Impairs Ovarian Tricarboxylic Acid Cycle and Reduces Oocyte Quality in Mouse

Article

Author: Cheng, Si‐Yao ; Xu, Chang‐Long ; Qi, Zhong‐Quan ; Li, Rui‐Cheng ; Chen, Yan‐Zhu ; Liu, Yu ; Xu, Zhi‐Ran ; Yang, Yi‐Fan ; Liu, Yue‐Cen ; Wang, Wen‐Ke ; He, Quan‐Kuo ; Wang, Hai‐Long

ABSTRACTAcrylamide (AAM), a compound extensively utilized in various industrial applications, has been reported to induce toxic effects across multiple tissues in living organisms. Despite its widespread use, the impact of AAM on ovarian function and the mechanisms underlying these effects remain poorly understood. Here, we established an AAM‐exposed mouse toxicological model using 21 days of intragastric AAM administration. AAM exposure decreased ovarian coefficient and impaired follicle development. Further investigations revealed AAM would trigger apoptosis and disturb tricarboxylic acid cycle in ovarian tissue, thus affecting mitochondrial electron transport function. Moreover, AAM exposure decreased oocyte and embryo development potential, mechanically associated with pericentrin and phosphorylated Aurora A cluster failure, leading to meiotic spindle assembly defects. Collectively, these results suggest that AAM exposure may lead to apoptosis, glucose metabolic disorders, and mitochondrial dysfunction in ovary tissue, ultimately compromising oocyte quality.

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