C1orf88
- Known as:
- C1orf88
- Catalog number:
- 002800A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- C1orf88
Related genes to: C1orf88
- Gene:
- PIFO NIH gene
- Name:
- primary cilia formation
- Previous symbol:
- C1orf88
- Synonyms:
- FLJ23853, pitchfork
- Chromosome:
- 1p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-05-27
- Date modifiied:
- 2014-11-19
Related products to: C1orf88
Related articles to: C1orf88
- Protein arginine methyltransferase 9 (PRMT9) is part of the PRMT family, and it is suspected to function in pathways relevant to neurodevelopment. It is thought to participate in alternative splicing through interactions with the splicing factor SF3B2 (SAP145). In this study, we report 26 families (35 individuals) with bi-allelic loss-of-function variants in PRMT9, implicating PRMT9 in an autosomal-recessive human disease. Individuals primarily present with a neurodevelopmental disorder characterized by global developmental delay, learning disabilities, mild to severe intellectual disability, autism spectrum disorder, epilepsy, and hypotonia. The mutation spectrum includes 26 different variants such as frameshifting indels, nonsense variants, missense variants, and two copy-number variants. Mapping of the disease-causing missense variants onto the crystal structure of PRMT9 revealed that several of the variants reside within the catalytically active module of PRMT9, likely impairing its methyltransferase activity and resulting in a loss of function. In skin fibroblasts derived from affected individuals, we observed reduced expression at the RNA and/or protein level and subsequent aberrant methylation activity. Moreover, transcriptomic analysis of fibroblasts from affected individuals indicated differential expression of genes related to intellectual disability, autism, and cilia, suggesting a role of PRMT9 during ciliogenesis. Under ciliogenesis conditions, the skin-derived fibroblasts exhibited anomalies in the length of primary cilia but normal amounts of cilia. In addition, a prmt9 knockout zebrafish model displayed abnormal social preference in adult animals. Altogether, our findings implicate bi-allelic PRMT9 loss-of-function variants as causal for neurodevelopmental disorders. - Source: PubMed
Publication date: 2025/11/18
Kröll-Hermi ArianeStoetzel CorinneEtard ChristelleHalabelian LevonSchaefer EliseScheidecker SophieKahrizi KimiaPayman JamaliGeoffroy VéroniquePrasad MeganaObringer CathyRuch LaurieGirard AmandineZeng HongLi FenglingPlassard DamienKeime CélineMattioli FrancescaFeger ClairePiton AmélieFujita AtsushiMatsumoto NaomichiCastro Matheus Augusto AraujoAe Kim ChongRuaud LyseLevy JonathanDozières BlandineTabet Anne-ClaudeWentzensen Ingrid MSantiago-Sim TeresaYusupov RomanTveten KristianSmeland Marie FalkenbergAlkhunaizi EbbaCowing GinaLi ChumeiWortmann Saskia BFeichtinger René GMayr Johannes AGonorazky HermanJing GanWang XiaodongWang JiaBierhals TatjanaGrinstein LevHerget TheresiaRuiz AnnaGabau ElisabethKampmeier AntjeKassel OlivierKuechler AlmaPlatzer KonradJamra Rami AbouWoerner AudreyIdleburg MichaelaKircher Susanne GeritLaccone FrancoGolob BarbaraPeterlin BorutČuturilo GoranTasic VeliborKolvenbach Caroline MHildebrandt FriedhelmRamos Luiza L PKok FernandoBuck Cecilia Barbosavan de Laar Ingrid M B Hde Man Stella ATaşdelen ElifcanSezer AbdullahBüke AfifeYavuz ZehraÇomoğlu Selim SelçukCostin CarrieTran Mau Them FrédéricLacaze ElodieCourtin ThomasHéron DelphineKeren BorisWhalen SandraRoume JoelleYang YanzhongHoffer Mariëtte J Vvan Haeringen ArieNajmabadi HosseinArrowsmith Cheryl HSträhle UweDollfus HélèneMuller Jean - This paper introduces two novel fault detection techniques employing Fractional Order Proportional Integral Fuzzy Observer (FO-PIFO) designs to diagnose nonlinear systems modeled by Fractional Order Takagi-Sugeno (FO-TS) frameworks. The proposed approaches address both measurable premise variables (MPV) and unmeasurable premise variables (UPV), facilitating the development of observer banks for effective fault detection. By extending prior research, largely limited to integer-order Takagi-Sugeno models, into the domain of fractional-order systems, this study fills a critical gap in the literature. Two strategies are proposed to ensure compatibility with fractional-order modeling: one reformulates FO-TS models using MPV, while the other constructs FO-TS models with UPV via uncertain fuzzy models incorporating approximated states. The FO-PIFO convergence criteria are derived using fractional-order Lyapunov theory, and the associated stability conditions are expressed as Linear Matrix Inequalities (LMIs). To enhance robustness, strategies for mitigating external disturbances are also integrated. The resulting FO-PIFO designs are then employed to build observer banks that generate residuals for detecting actuator and sensor faults. Finally, multiple simulation scenarios are presented to validate the effectiveness and practicality of the proposed diagnostic methods. - Source: PubMed
Publication date: 2025/09/01
Djeddi AbdelghaniAzar Ahmad TaherDjari AbdelhamidDib DjalelAlshathri SamahEl-Shafai Walid - Laterality defects are defined by the perturbed left-right arrangement of organs in the body, occurring in a syndromal or isolated fashion. In humans, primary ciliary dyskinesia (PCD) is a frequent underlying condition of defective left-right patterning, where ciliary motility defects also result in reduced airway clearance, frequent respiratory infections, and infertility. Non-motile cilia dysfunction and dysfunction of non-ciliary genes can also result in disturbances of the left-right body axis. Despite long-lasting genetic research, identification of gene mutations responsible for left-right patterning has remained surprisingly low. Here, we used whole-exome sequencing with Copy Number Variation (CNV) analysis to delineate the underlying molecular cause in 35 mainly consanguineous families with laterality defects. We identified causative gene variants in 14 families with a majority of mutations detected in genes previously associated with PCD, including two small homozygous CNVs. None of the patients were previously clinically diagnosed with PCD, underlining the importance of genetic diagnostics for PCD diagnosis and adequate clinical management. Identified variants in non-PCD-associated genes included variants in and , suggesting that dysfunction of these genes results in laterality defects in humans. Furthermore, we detected candidate variants in and possibly associated with situs inversus. The low mutation detection rate of this study, in line with other previously published studies, points toward the possibility of non-coding genetic variants, putative genetic mosaicism, epigenetic, or environmental effects promoting laterality defects. - Source: PubMed
Publication date: 2022/04/13
Antony DinuGulec Yilmaz ElifGezdirici AlperSlagter LennartBakey ZeinebBornaun HelenTanidir Ibrahim CansaranVan Dinh TranBrunner Han GWalentek PeterArnold Sebastian JBackofen RolfSchmidts Miriam - Three fluorinated polyimide (PI-FP, PI-FO and PI-FH) films with low dielectric constants and excellent comprehensive properties were successfully prepared using a polycondensation reaction method by incorporating p-phenylenediamine (PDA), 4-4'-diaminodiphenyl ether (ODA) and 4,4'-(Hexafluoroisopropylidene) bis (p-phenyleneoxy) dianiline (HFPBDA) into 4,4'-(Hexafluoroisopropylidene) diphthalic anhydride (6FDA), respectively. The effects of the diamine monomer structure on optical, dielectric and mechanical properties were investigated. Compared with PDA and ODA, HFPBDA can effectively improve the optical and dielectric properties of PI due to due to its special chain structure. Among the three PI films, PI-FH film presents the best optic transmission (highest transmittance = 90.2%) and highest energy gap (2.69 eV). The dielectric properties of PI-FH film improve the most. The dielectric constant and loss at 10 Hz are reduced to 2.05 and 0.0034 at 10 Hz, respectively, and remain stable up to 250 °C. The mechanical properties decrease in turn for PI-FP, PI-FO and PI-FH films due to the increase in free volume fraction. Nevertheless, PI-FH film still exhibits good mechanical properties with a tensile strength of 88.4 Mpa, a tensile modulus of 2.11 GPa and an elongation at break of 4.1%. The correlation between the dielectric and mechanical properties of PI films and their free volume characteristics is well explained with the help of positron annihilation spectroscopy. - Source: PubMed
Publication date: 2021/11/29
Sun YuLi TaoDai HaiyangWang ManmanXue RenzhongChen JingLiu Dewei - Muscle weakness and fatigability, the prominent symptoms of autoimmune myasthenia gravis (MG), negatively impact daily function and quality of life (QoL). It is currently unclear as to what extent symptoms limit activity and whether physical activity (PA) behaviours are associated with reduced QoL. - Source: PubMed
Birnbaum SimoneBachasson DamienSharshar TarekPorcher RaphaëlHogrel Jean-YvesPortero Pierre