ALS2CR4 antibody
- Known as:
- ALS2CR4 (anti-)
- Catalog number:
- orb101617
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- ALS2CR4 antibody
Related genes to: ALS2CR4 antibody
- Gene:
- TMEM237 NIH gene
- Name:
- transmembrane protein 237
- Previous symbol:
- ALS2CR4
- Synonyms:
- JBTS14
- Chromosome:
- 2q33.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-01-26
- Date modifiied:
- 2016-10-05
Related products to: ALS2CR4 antibody
Related articles to: ALS2CR4 antibody
- BACKGROUND: Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies caused by pathogenic variants in over 40 genes, mainly encoding ciliary proteins. However, data on JSRD in the Saudi population remain limited. This study aimed to identify novel and reported JSRD-causing variants in Saudi families and analyze their potential functional impact on protein structure using advanced computational tools. METHODS: Patients with genetically or clinically confirmed/suspected JSRD were recruited according to ethical protocols. Clinical data were collected, and exome sequencing was performed, followed by Sanger validation of identified variant. Pathogenicity was assessed using bioinformatics tools, while conservation, expression and RNA structure analyses were conducted to evaluate the potential functional consequences. RESULTS: Homozygous variants were identified in three consanguineous Saudi families, including a novel stop-gain variant in KIF7 (c.2992 C > T; p.(Gln998Ter)), and novel splice-site variant in CEP104 (c.489 + 1G > A) and a previously reported splice-site variant in TMEM237 (c.869 + 1G > A). All variants were predicted to be pathogenic as per ACMG criteria and located in highly conserved regions, suggesting potential functional impact. RNA analysis suggested possible alterations in folding. CONCLUSION: This study identified three pathogenic variants in JSRD-related genes in Saudi families, including two novel variants. These findings expand the variant spectrum for JSRD, particularly in the Saudi population. Establishing a comprehensive regional variant database is essential for improving molecular diagnosis and genetic counseling in population with high consanguinity. Finally, these results highlight the need for further functional studies to validate their pathogenicity and elucidate their role in JSRD pathogenesis. - Source: PubMed
Publication date: 2026/04/11
Alafghani RimanAljeaid DeemaShaik Noor AhmadBanaganapalli BabajanElango RamuKhard GhayahHabab WisamJadkarim GhadaAlshaer Dalal SameerAlmutadares MahmoudAlrayes Nuha MohammadIssa Noha M
- Source: PubMed
- Parkinson's disease (PD) is a complex neurodegenerative disease driven by combined genetic and environmental factors. Human studies support increased PD risk following exposure to the pesticide maneb yet animal studies generally report subtle or no dopaminergic phenotypes unless maneb is combined with additional pesticides. Consequently, it is unclear whether exposure to maneb alone promotes degeneration of dopamine (DA) neurons and if so, what the underlying mechanisms are. We hypothesized that gene-environment interactions are major determinants of maneb-mediated neurodegeneration and in support of this we find that DA neuron viability is divergent among 186 maneb-exposed genetically varying fly strains from the Drosophila Genetic Reference Panel. Through genome-wide association analysis we identify several candidate genetic modifiers of maneb-induced DA neurodegeneration and further validate 2 candidate genes, fz2 and CG14186 which we find potentiate maneb-induced DA neurodegeneration when knocked down. fz2 and the mammalian ortholog of CG14186 (TMEM237) are both thought to be necessary for intact Wnt pathway signaling in nervous system development and maintenance. Accordingly, we find that adult-specific perturbation of Wnt signaling is sufficient to promote maneb-induced DA neuron loss. Collectively, these results support a role for gene-environment interactions in PD etiology and reveal candidate mediators of maneb-related DA neurodegeneration in vivo. - Source: PubMed
Villalobos-Cantor StefannyArreola-Bustos AliciaMartin Ian - Joubert syndrome (JS) is a rare autosomal recessive genetic disease characterized by molar tooth sign, hypotonia during infancy, developmental delay, and/or intellectual disability. Over 40 genes have been associated with the syndrome, and population-specific founder variants have been defined. - Source: PubMed
Publication date: 2025/05/31
Kiraz AslihanErdogan MuratBalta BurhanGumus HakanMutlu Mehmet BurakMammadova NuranaOzcelik FiratSahin Izem OlcayGuven Ahmet SamiKumandas SeferSavranlar AhmetKaraman FilizPer HuseyinDundar Munis - Hypoxia-inducible factors (HIFs) are the most essential endogenous transcription factors in the hypoxic microenvironment and regulate multiple genes involved in the proliferation, migration, invasion, and EMT of hepatocellular carcinoma (HCC) cells. However, the regulatory mechanism of HIFs in driving HCC progression remains poorly understood. - Source: PubMed
Publication date: 2023/04/11
Chen TianxiangWang LiangChen ChaoLi RuntianZhu NingLiu RunkunNiu YongshenXiao ZhengtaoLiu HuiLiu QingguangTu Kangsheng