Ask about this productRelated genes to: MAB21L1 Blocking Peptide
- Gene:
- MAB21L1 NIH gene
- Name:
- mab-21 like 1
- Previous symbol:
- -
- Synonyms:
- CAGR1
- Chromosome:
- 13q13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1996-08-16
- Date modifiied:
- 2016-04-06
Related products to: MAB21L1 Blocking Peptide
Related articles to: MAB21L1 Blocking Peptide
- DNA methylation is among the most promising biomarkers for age prediction, enabling the development of epigenetic clocks that correlate methylation profiles with chronological age. In this study, we investigated the relationship between ageing and disease susceptibility, focusing on both nuclear and mitochondrial DNA methylation in dairy cows. Genome-wide DNA methylation profiling was performed using enzymatic methyl-seq, covering 53 million CpG sites. The dataset included 96 cows with different phenotypes, sampled cross-sectionally and ranging from 2 to 9 years of age. We applied elastic net regression to identify the most predictive CpG sites for age estimation, achieving a mean absolute error of 111 days with a strong correlation to chronological age = 0.97. Beyond chronological age prediction, we assessed the impact of disease status on epigenetic ageing. Our results revealed accelerated epigenetic ageing in cows susceptible to diseases, suggesting a link between health-related stress and disrupted DNA methylation dynamics. We further identified age-associated promoter methylation changes, particularly in MAB21L1, which may play a role in molecular ageing mechanisms. Additionally, we observed a decline in mitochondrial DNA methylation with age, notably in genes encoding Cytochrome c oxidase (COX), indicating a possible connection between mitochondrial dysfunction and epigenetic regulation. An inverse correlation between D-loop methylation and mtDNA copy number was also observed. This study demonstrates the potential of epigenetic models for biological age prediction in livestock, while recognizing that their accuracy may vary among species with different lifespans. - Source: PubMed
Publication date: 2025/12/08
Bouzeraa Lotfide Lima Camila BrunaMartin HeleneMarques Jessica C SCerri RonaldoOudihat MohamedSirard Marc-Andre - Resolving the molecular basis of a Mendelian condition remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome and transcriptome sequencing approach, which enables accurate single-nucleotide, insertion-deletion and structural variant calling and diploid de novo genome assembly. This permits the simultaneous elucidation of haplotype-resolved CpG methylation, chromatin accessibility and full-length transcript information in a single long-read sequencing run. Application of this approach to an Undiagnosed Diseases Network participant with a chromosome X;13-balanced translocation of uncertain significance revealed that this translocation disrupted the functioning of four separate genes (NBEA, PDK3, MAB21L1 and RB1) previously associated with single-gene Mendelian conditions. Notably, the function of each gene was disrupted via a distinct mechanism that required integration of the four 'omes' to resolve. These included fusion transcript formation, enhancer adoption, transcriptional readthrough silencing and inappropriate X-chromosome inactivation of autosomal genes. Overall, this highlights the utility of synchronized long-read multi-omic profiling for mechanistically resolving complex phenotypes. - Source: PubMed
Publication date: 2025/01/29
Vollger Mitchell RKorlach JonasEldred Kiara CSwanson ElliottUnderwood Jason GBohaczuk Stephanie CMao YiziCheng Yong-Han HRanchalis JaneBlue Elizabeth ESchwarze UlrikeMunson Katherine MSaunders Christopher TWenger Aaron MAllworth AimeeChanprasert SirisakDuerden Brittney LGlass IanHorike-Pyne MarthaKim MichelleLeppig Kathleen AMcLaughlin Ian JOgawa JessicaRosenthal Elisabeth ASheppeard SamSherman Stephanie MStrohbehn SamuelYuen Amy LStacey Andrew W Reh Thomas AByers Peter HBamshad Michael JHisama Fuki MJarvik Gail PSancak YaseminDipple Katrina MStergachis Andrew B - An aqueous solution of a common food dye, Fast Green FCF (FG), mimics cholyl-lysyl-fluorescein to visualize embryonic bile flow via single peritoneal injection into intrauterine mouse embryos. Despite its efficacy in embryos, its suitability for adult mice and small to medium-sized mammals remained uncertain. In this study, we investigated FG cholangiography in adult mice, dogs, and goats. The results demonstrate that FG injection enables progressive cholangiography in these species, highlighting its versatility across different animal models without necessitating specialized equipment. To further evaluate diagnostic utility, FG cholangiography was performed in various mouse models of bile flow disorders. FG successfully visualized dilated lumina in the extrahepatic bile duct of BDL mice and revealed aberrant luminal structures in the gallbladder walls of Sox17 or Shh-cre; Sox17 mice. In Mab21l1 mice with contracted gallbladders, FG influx was limited to the gallbladder neck. Moreover, stereomicroscopic video analysis of FG influx into the gallbladder post-fasting revealed differences in gallbladder wall state and its bile composition between Sox17 and wild-type mice, suggesting the potential for detecting variations in gallbladder stored bile properties. These findings underscore the efficacy of FG in facilitating progressive cholangiography across mammalian species. - Source: PubMed
Publication date: 2025/01/16
Niimi TomoyukiMiyazaki NanaeOiki HironobuUemura MamiZeng ShihanPromsut WatcharaponOta NoriakiNonaka ShunjiTakei HajimeNittono HiroshiNarushima SeikoYanagida AyakaHiramatsu RyujiKanai-Azuma MasamiTakami ShoheiFujishiro JunKanai Yoshiakira - The biallelic variant of has previously been documented in conjunction with the autosomal recessive cerebellar, ocular, craniofacial, and genital syndrome (COFG). The purpose of this study was to investigate the gene-disease association of and the newly discovered autosomal dominant (AD) microphthalmia. - Source: PubMed
Publication date: 2024/07/17
Li JinliWang QinYang AijunZhang Junyu - Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), have created challenges for proper diagnosis and classification of diseases. Over the last decade, genomic research has indeed boosted our understanding in the molecular basis of ASD and genes associated with both autosomal dominant and recessive patterns of inheritance have been described with a wide range of expressivity. Here we describe the molecular characterization of a cohort of 162 patients displaying isolated or syndromic congenital ocular dysgenesis. Samples were analyzed with diverse techniques, such as direct sequencing, multiplex ligation-dependent probe amplification, and whole exome sequencing (WES), over 20 years. Our data reiterate the notion that PAX6 alterations are primarily associated with ASD, mostly aniridia, since the majority of the cohort (66.7%) has a pathogenic or likely pathogenic variant in the PAX6 locus. Unexpectedly, a high fraction of positive samples (20.3%) displayed deletions involving the 11p13 locus, either partially/totally involving PAX6 coding region or abolishing its critical regulatory region, underlying its significance. Most importantly, the use of WES has allowed us to both assess variants in known ASD genes (i.e., CYP1B1, ITPR1, MAB21L1, PXDN, and PITX2) and to identify rarer phenotypes (i.e., MIDAS, oculogastrointestinal-neurodevelopmental syndrome and Jacobsen syndrome). Our data clearly suggest that WES allows expanding the analytical portfolio of ocular dysgenesis, both isolated and syndromic, and that is pivotal for the differential diagnosis of those conditions in which there may be phenotypic overlaps and in general in ASD. - Source: PubMed
Publication date: 2024/03/08
Zucco JessicaBaldan FedericaAllegri LorenzoBregant ElisaPasson NadiaFranzoni AlessandraD'Elia Angela ValentinaFaletra FlavioDamante GiuseppeMio Catia