Ask about this productRelated genes to: KIAA0427 antibody
- Gene:
- CTIF NIH gene
- Name:
- cap binding complex dependent translation initiation factor
- Previous symbol:
- KIAA0427
- Synonyms:
- -
- Chromosome:
- 18q21.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-12-15
- Date modifiied:
- 2016-06-09
Related products to: KIAA0427 antibody
Related articles to: KIAA0427 antibody
- The gene encodes a protein kinase involved in nervous system development and function. Pathogenic variants in this gene can cause a severe neurodevelopmental CDKL5 deficiency disorder (CDD). The CDKL5 protein contains a catalytic N-terminal domain (NTD) and a less characterized C-terminal domain (CTD). We discovered that the CTD is a serine-rich low-complexity region driving liquid-liquid phase separation (LLPS), a biophysical process controlling protein localization and function, by which CDKL5 forms intracellular membraneless condensates. A CTD internal fragment (CTIF) plays a pivotal LLPS-promoting role, along with the distal portion of the protein. In CDD, transcripts carrying pathogenic nonsense or frameshift mutations introducing distal premature termination codons may escape nonsense-mediated decay, producing CDKL5 proteins with a variably truncated CTD. We found that two distal truncations, removing part of the CTIF and the downstream protein tail, significantly reduce CDKL5 LLPS and catalytic function. These findings demonstrate that CDKL5 undergoes LLPS, driven by a CTD region whose loss in distally truncated forms of the protein-by impairing LLPS and functional activity-may play a role in the molecular pathogenesis of CDD. - Source: PubMed
Publication date: 2026/03/10
Boggio Bozzo StefaniaDell'Oca MarcoVaglietti SerenaGurgone AntoniaCardinale VitaRagazzini GregorioAlessandrini AndreaColnaghi LucaBazan J FernandoGhirardi MirellaGiustetto MaurizioFiumara Ferdinando - Transoral incisionless fundoplication (TIF) is an FDA-approved endoscopic procedure for managing gastroesophageal reflux disease (GERD). Despite growing adoption and supporting evidence, significant variability exists in clinical practice. The study aimed to characterize current TIF practice patterns among U.S.-based gastroenterologists and surgeons. - Source: PubMed
Publication date: 2025/12/29
Gioe BrennanJaber FouadAyyad MohammedAyoub FaresAbidi WasifPatel Kalpesh KGutierrez Olaya BrewerParker BrettDaVee Roy TomasWilson ErikThosani NiravSkef Wasseem - Gastroesophageal Reflux Disease (GERD) is a common cause of chronic cough. Transoral incisionless fundoplication (TIF) or TIF with concomitant hiatal hernia repair (cTIF) may be suitable treatments. We studied the effectiveness of TIF/cTIF in patients with chronic cough and proven GERD. - Source: PubMed
Publication date: 2025/10/02
Swei EricAlmario Jose ADunbar KerryYadlapati RenaParker BrettBrewer-Gutierrez OlayaJanu PeterMurray MichaelSohagia AmitDiehl David LKhara HarshitAbu Dayyeh BarhamSharaiha ReemZarnegar RasaKolb Jennifer MNguyen NinhChang KennethCanto Marcia I - The genetic potential of Central African cattle for enhanced productivity remains largely unexplored. The absence of systematic pedigree recording and performance monitoring represent a major obstacle to implementing informed breeding strategies aimed at improving their production. To address this gap, we performed a genome-wide association analysis (GWAS) on a total of 856 animals genotyped with the GGP Bovine 100K array. The analysis focused on identifying genomic regions and candidate genes associated with body traits in a local Zebu (Gudali) and its crossbreed with the European Simmental (Simgud), using mixed linear models (MLM). - Source: PubMed
Publication date: 2025/07/14
Matenchi Youchahou PoutougnigniBastanlar Evren KobanHegarty Matthew - Epigenetic changes contribute to colorectal cancer (CRC) pathogenesis. We investigated whether methylation quantitative trait loci (mQTLs) are associated with CRC risk, survival and recurrence. - Source: PubMed
Publication date: 2025/06/12
Mesa-Eguiagaray InesIakovliev AndriiLi XueTimofeeva MariaHe YazhouZhang XiaomengDin Farhat V NFarrington Susan MSpiliopoulou AthinaDunlop Malcolm GTheodoratou Evropi