DNAL4 Antibody
- Known as:
- DNAL4 Antibody
- Catalog number:
- XW-7979
- Product Quantity:
- 0.05 mg
- Category:
- -
- Supplier:
- Prosci
- Gene target:
- DNAL4 Antibody
Related genes to: DNAL4 Antibody
- Gene:
- DNAL4 NIH gene
- Name:
- dynein axonemal light chain 4
- Previous symbol:
- -
- Synonyms:
- dJ327J16, PIG27
- Chromosome:
- 22q13.1
- Locus Type:
- gene with protein product
- Date approved:
- 1999-10-19
- Date modifiied:
- 2016-03-02
Related products to: DNAL4 Antibody
Related articles to: DNAL4 Antibody
- Congenital mirror movements (CMMs) are involuntary movements of one side of the body that mirror intentional movements of the opposite side. DCC, NTN1, RAD51, ARHGEF7, and DNAL4 have been associated with CMMs. Two-thirds of CMM-affected individuals remain without a genetic diagnosis, indicating that variants in additional genes need to be discovered. We report on a 27-year-old female with CMMs of the hands. Trio exome sequencing in the proband and healthy parents did not reveal a likely pathogenic variant in one of the CMM-associated genes but rather a de novo heterozygous frameshift variant c.523dup (p.Ser175Lysfs∗8) in the candidate RBM15. The variant results in only partial nonsense-mediated mRNA decay of RBM15 transcripts in the proband's lymphoblastoid cells. RBM15 encodes an RNA-binding protein involved in alternative splicing as well as other processes. Dcc alternative splicing generates Dcc and Dcc isoforms, which are important for commissural axon midline crossing. We tested whether Rbm15 regulates Dcc alternative splicing by using an in vitro minigene assay. Ectopic expression of Rbm15, similar to the splicing factors Nova1 and Nova2, promotes the production of Dcc transcripts. The possible link between Rbm15 and Dcc supports a role for Rbm15 in CMMs. - Source: PubMed
Publication date: 2025/10/07
Harms Frederike LKortüm FannyAlawi MalikStaudt MartinKutsche Kerstin - Rectal carcinoma (RC) represents approximately 30% of all colorectal carcinomas (CRC) and is considered a distinct clinical entity. Vascular invasion (VI) is recognized as an independent predictor of poor outcomes in RC. In this study, we applied bioinformatics methods to identify gene pathways most likely associated with VI in rectal carcinoma. As showed statistically significant negative relations with the VI in RC patients, we further analyzed its top co-dependent genes-DNAL4, EVI2B, PPP1R35, PTGR3, RPL21, SOX4, and ZNF3-for the experimentally proven molecular modulators. We identified a total of 23 compounds from the Comparative Toxicogenomics Database based on previously reported data for all eight target genes. The search was expanded to include additional chemical agents by structure similarity using the PubChem database, which revealed 9661 additional compounds. These were subsequently used for molecular interaction analysis against target proteins co-expressed with, or associated with, in RC with VI. Ultimately, we identified four high-affinity compounds-cyanoginosin LR, doxorubicin, benzo[a]pyrene, and dibenzo(a,e)pyrene-that interacted with all target proteins. These compounds show potential for further assessment of their role in modulating processes related to vascular invasion, which is a strong negative predictor of RC outcomes. - Source: PubMed
Publication date: 2025/06/28
Kožik BojanaČorbo TarikPojskić NarisBožović AnaTodorović LidijaKolaković AnaMandušić VesnaPojskić Lejla - Congenital mirror movements (CMM) is a rare neurodevelopmental disorder characterized by involuntary movements from one side of the body that mirror voluntary movements on the opposite side. To date, five genes have been associated with CMM, namely DCC, RAD51, NTN1, ARHGEF7, and DNAL4. - Source: PubMed
Publication date: 2024/02/05
Collins Hutchinson Meagan LSt-Onge JudithSchlienger SabrinaBoudrahem-Addour NassimaMougharbel LinaMichaud Jean-FrancoisLloyd ClaraBruneau ElenaRoux CedricSahly Ahmed NOsterman BradleyMyers Kenneth ARouleau Guy AJimenez Cruz Daniel AlexanderRivière Jean-BaptisteAccogli AndreaCharron FredericSrour Myriam - The 9p deletion syndrome, which was defined in a detailed way in the previous studies, was characterized by various clinical features such as psychomotor retardation, dysmorphic features and genital anomalies. In contrast to 9p deletion syndrome, 20p duplication was rarely reported in the literature with only a few case reports. Regarding the combination of 9p deletion syndrome and 20p duplication, we found that it was reported in only four patients. In the current study, we aimed to investigate a rare chromosomal rearrangement, partial monosomy 9p and trisomy 20p which was observed in two patients with mirror hand movements. The mirror hand movements was influenced by the combination of genetic and environmental factors. While some cases have been associated with mutations in the DCC, NTN1, RAD51, and DNAL4, there were many cases where the genetic basis of mirror hand movements remained unexplained. There was no alteration detected in genes that were previously known as a cause of mirror hand movement in our patients. This new finding could potentially be attributed to the dosage effect of genes within the 9p deletion or 20p duplication regions or to the genes disrupted within the breakpoint region. Future research focusing on the genes within this genomic locus may hold the potential to uncover novel etiologic reasons for mirror hand movements. - Source: PubMed
Publication date: 2024/02/01
Ozyavuz Cubuk Pelin - To perform a comprehensive characterization of a cohort of patients with congenital mirror movements (CMMs) in Sweden. - Source: PubMed
Publication date: 2020/10/20
Thams SebastianIslam MominulLindefeldt MarieNordgren AnnGranberg TobiasTesi BiancaBarbany GiselaNilsson DanielPaucar Martin