SILAC - RPMI 1640
- Known as:
- SILAC - RPMI 1640
- Catalog number:
- 0422
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Athenaes
- Gene target:
- SILAC - RPMI 1640
Related genes to: SILAC - RPMI 1640
- Gene:
- CCDC40 NIH gene
- Name:
- coiled-coil domain containing 40
- Previous symbol:
- -
- Synonyms:
- FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172
- Chromosome:
- 17q25.3
- Locus Type:
- gene with protein product
- Date approved:
- 2005-12-13
- Date modifiied:
- 2018-11-15
Related products to: SILAC - RPMI 1640
1640
2,3,3-Trimethylindolenine C11H13N CAS: 1640-39-72,3,3-Trimethylindolenine CAS: 1640-39-7 Formula: C11H13N2,3,3_Trimethylindolenine Trimethylindolenine6_CHLOROQUINAZOLINE_2,4_DIONE 6_CHLOROQUINAZOLACID FUCHSINACID FUCHSINACID FUCHSINACID FUCHSINAnti-human LEC NCC-4 CCL16 (MAB), Source: Monoclonal Murine, MABAnti-human LEC NCC-4 (CCL16), bt, Source: Polyclonal bt. Goat, PABAnti-human LEC NCC-4 (CCL16), bt, Source: Polyclonal bt. Goat, PABAnti-human LEC NCC-4 (CCL16), bt, Source: Polyclonal bt. Goat, PABAnti-human LEC NCC-4 (CCL16), Source: Polyclonal Goat, PABAnti-human LEC NCC-4 (CCL16), Source: Polyclonal Goat, PAB Related articles to: SILAC - RPMI 1640
- Left-right symmetry breaking in mice is considered to occur via node leftward fluid flow. The molecular cascade within the node has been reconstructed at high resolution; however, its importance for organogenesis remains poorly understood. Here, we show in mutants for the motile cilium component CCDC40 that 70% of mice develop normal situs at birth despite abrogation of node flow. The discrete morphospace output, including situs inversus totalis and heterotaxy with left isomerism, supports an innovative model of symmetry breaking, in which node flow only biases asymmetry orientation, while a distinct mechanism, potentially self-amplifying, generates it. Longitudinal, quantitative, and paired transcriptomic analyses uncover the molecular signature of laterality clusters, highlighting WNT in addition to NODAL pathways. We identify asymmetry of cardiopulmonary progenitors, the disruption of which is associated with combined heart and lung defects in mutants. Functional pharmacological perturbation reinforces the importance of WNT, besides the node, in the establishment of asymmetry. - Source: PubMed
Publication date: 2026/07/23
Ochandorena-Saa AmaiaPerthame EmelineOulerich ZoéChamolly AlexanderBlisnick ThierryLokmer JohannaRouillon CécileBastin PhilippeMeilhac Sigolène M - Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder leading to destructive airway disease with severe bronchiectasis and chronic lung failure in adulthood. Pathogenic variants in CCDC40 are associated with a more severe reduction of lung function compared to most other PCD types. Currently, no therapies correcting the underlying disease mechanism are available. Here, we investigate the efficacy of lipidoid nanoparticle-formulated mRNA encoding human CCDC40 (LNP-CCDC40-mRNA) as a corrective measure for structural and functional defects in vitro (human cells) and in vivo (zebrafish). Human nasal respiratory epithelial cells cultured at an air-liquid interface from 5 CCDC40-deficient individuals and a newly generated vertebrate animal model (ccdc40-/- zebrafish) were treated with LNP-CCDC40-mRNA. CCDC40-deficient cells were analyzed by high-speed video microscopy and immunofluorescence microscopy. ccdc40-/- zebrafish olfactory pit cilia were analyzed by high-speed video microscopy and fluid flow assays. Topical application of exogenous LNP-CCDC40-mRNA to CCDC40-deficient cells results in endogenous CCDC40 expression (10%-74% of ciliated cells), enabling axonemal integration of CCDC40-associated proteins (CCDC39, GAS8/DRC4, DNALI1). Consistently, ciliary beat frequencies were significantly increased in treated CCDC40-deficient cells and were comparable to those of healthy control cells. Further, we showed improved ciliary transport of fluorescent particles. Injection or topical application of human LNP-CCDC40-mRNA to ccdc40-/- zebrafish significantly increased ciliary motility and established directional flow in olfactory pits. We provide structural and functional evidence in vitro and in vivo for the biological efficacy of LNP-CCDC40-mRNA in CCDC40-deficient respiratory cells and zebrafish. Based on our results, an in vivo human study (Phase 1 trial) is planned in individuals with pathogenic variants in CCDC40. - Source: PubMed
Wohlgemuth KaiRasteiro MargaridaAneja ManishBota CatarinaCindric SandraFreischem StefanieGeorge SebastianGünes Günsel GizemIshola SeunKoenig JuliaKubisch-Dohmen RebekkaLangenickel ThomasLoges Niki TomasLopes MiguelMummert VerenaOlbrich HeikePennekamp PetraPereira TelmoPinto Andreia LRaidt JohannaRudolph CarstenDorißen Ter Steege AdrianValecha DrishtiLopes Susana SOmran Heymut - Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by defective motile cilia and impaired mucociliary clearance. Mutations in CCDC40 disrupt axonemal organization, resulting in dyskinetic or immotile cilia. While emerging therapies may restore function in only a subset of cells, the functional consequences of mixed populations of mutant and healthy cilia are not well understood. - Source: PubMed
Publication date: 2026/02/20
Fitzpatrick Beck EWineinger Brett JBabcock Jason EQuiroz Erik JLiu Emily CGautam Lalit KPezzulo Alejandro AMoninger Thomas OMeyerholz David KHornick Douglas BRyan Amy L - Spermiogenesis requires extensive molecular and structural remodeling to produce motile sperm. Mutations in the testis-specific RNA methyltransferase NSUN7 are associated with defective fibrous sheath, impaired sperm motility, and male infertility. However, the underlying molecular mechanisms remain poorly understood. Here, we performed proteomic profiling of sorted, elongated, and round spermatids, as well as mature spermatozoa from Nsun7 knockout mice. We showed that NSUN7 is present at all stages of spermiogenesis and is most abundant in round spermatids, which corresponds to the formation of the flagellum and fibrous sheath assembly. Loss of NSUN7 altered the abundance of proteins essential for dynein arm assembly (PIH1D3, CCDC103, CCDC40), intraflagellar transport (IFT122), and fibrous sheath organization (AKAP3, AKAP4, ROPN1L). We also showed that the previously detected impaired retention of cytoplasm in elongated spermatids may be caused by plectin accumulation. Interestingly, no statistically significant changes were found in mature sperm proteomes upon Nsun7 inactivation. Our findings support a model in which NSUN7 primarily stabilizes protein complexes and coordinates flagellar assembly. This indicates that NSUN7 is a critical regulator of spermiogenesis, and its malfunction is a contributing factor to male infertility. - Source: PubMed
Publication date: 2025/12/25
Buev Vitaly SGuseva Ekaterina ARubtsova Maria PPriymak Anastasia VNovikova Svetlana EAverina Olga APermyakov Oleg AGrigoryeva Olga OManskikh Vasily NZgoda Victor GDontsova Olga ASergiev Petr V - To characterize the clinical features and genetic variant spectrum of adult patients with primary ciliary dyskinesia (PCD) in China and to explore phenotypic differences across distinct genotypes, with a focus on comparisons among commonly detected genetic variants. This study was a single-center, retrospective cohort investigation that enrolled 73 adult patients diagnosed with PCD at the Second Xiangya Hospital of Central South University between January 2015 and March 2025. Females patients comprised 58.9% (43/73) of the cohort, and the median age at diagnosis was 30.0 (23.5-39.0) years. Demographic and clinical data were collected, and follow-up was conducted by telephone to assess outcomes. Phenotypic differences were compared across common genotypes (, , , and ). Continuous variables were summarized as (, ) and analyzed using non-parametric tests, while categorical variables were assessed using Fisher's exact test. Among the 73 enrolled patients, 71 were diagnosed with PCD through genetic testing, and 2 were diagnosed by transmission electron microscopy. A history of consanguinity was reported in 47.9% (35/73) of cases. Situs inversus was present in 50.7% (37/73). CT demonstrated rhinosinusitis in 95.5% of patients (64/67), and bronchiectasis was observed in all patients (100%, 73/73). The most frequently identified genotypes were (17/71), (10/71), (5/71), and (5/71). Among these genotypes, significant differences were observed in the prevalence of female infertility (<0.001) and the severity of bronchiectasis as measured by the Reiff score (=0.013). Over a median follow-up period of 5.5 (2.3-6.8) years, seven patients (9.6%) died from pulmonary infections complicated by respiratory failure. Adult patients with PCD exhibit substantial clinical and genetic heterogeneity, accompanied by significant genotype-phenotype correlations. - Source: PubMed
Zhou X LLei CYang D HLiu YHe JFan HWang LGuo M QMa KLu X YYang B YGuo TLuo H