Ask about this productRelated genes to: CRELD1 Blocking Peptide
- Gene:
- CRELD1 NIH gene
- Name:
- cysteine rich with EGF like domains 1
- Previous symbol:
- AVSD2
- Synonyms:
- -
- Chromosome:
- 3p25.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-02-16
- Date modifiied:
- 2016-01-21
Related products to: CRELD1 Blocking Peptide
Related articles to: CRELD1 Blocking Peptide
- To identify new targets for protein-based treatments in psoriasis and evaluate the possible negative impacts of these druggable proteins. - Source: PubMed
Publication date: 2025/10/10
Zheng PingCao YanyunWang AoYi Ke - Nicotinic acetylcholine receptors are widely expressed in the peripheral and central nervous systems. Mutations in acetylcholine receptor-subunit genes have been associated with neuromuscular diseases, such as arthrogryposis multiplex congenita (AMC) and epilepsy. We report a patient with arthrogryposis, severe muscle weakness and neurodevelopmental delay. During his first year of life, he developed therapy-refractory epilepsy. Using whole-exome sequencing, we identified the compound pathogenic variants c. 875G>A (p. Cys292Tyr) and c. 959delA (p. Gln320Argfs*25) in the cysteine-rich with epidermal growth factor-like domain protein 1 gene (, NM_001077415.3). Recently, functional studies have shown that CRELD1 is a membrane-associated endoplasmic reticulum-resident protein disulphide isomerase that acts as a maturation enhancer of AChR biogenesis, thereby controlling the abundance of functional receptors at the cell surface. To test pathogenicity, we took advantage of the genetics and extremely rapid genome editing in . We were able to model these heterozygous variants and observed a decrease in AChRs at the neuromuscular junction. Hence, our study identifies compound heterozygous variants responsible for a rare neurodevelopmental disorder characterized by arthrogryposis, muscle weakness and epilepsy. - Source: PubMed
Publication date: 2025/09/03
D'Alessandro ManuelaBamborschke DanielBülow Margret HÖzdemir ÖzkanDaimagüler Hülya-SevcanBrümmer VerenaKucharowski NicoleSellin JuliaBrunn AnnaDeckert MartinaWunderlich GilbertKoerber FriederikeBessereau Jean-LouisCirak Sebahattin - encodes a cell adhesion molecule initially implicated in atrioventricular septal defects (AVSDs). More recently, biallelic variants have been associated with syndromic and non-syndromic neurodevelopmental disorders (NDDs). We describe three individuals from unrelated families with compound heterozygous variants, identified through exome sequencing. Clinical and genetic data were reviewed to delineate shared and divergent features. All three patients presented with developmental delay, intellectual disability, seizures, hypotonia, and dysmorphic facial features. Patient 1 and patient 2 carried a recurrent variant combination previously reported in five individuals, while Patient 3 harboured the recurrent frameshift p.(Gln320Argfs*25) variant in trans with a novel missense variant. The milder clinical course of patient 3 highlights phenotypic heterogeneity. Notably, none of the patients had cardiac anomalies or immunological abnormalities, further expanding the clinical spectrum associated with . Our findings reinforce genotype-phenotype correlations and provide additional evidence that biallelic variants underlie a distinct autosomal recessive neurodevelopmental disorder, broadening both the phenotypic and genetic spectrum of this emerging syndrome. - Source: PubMed
Publication date: 2025/08/18
Archer JessicaGoh ShuxiangMiteff ChristinaO'Donnell SheridanPark KristenGoel Himanshu - The determination of developmental toxicity (DT) is an emerging approach to investigate the environmental factors contributing to the development of congenital heart disease (CHD). However, the molecular interactions between these toxicants and cardiac-specific genes, along with the mechanisms, are not yet fully understood. This innovative study employed advanced in-silico techniques, such as protein-protein interaction (PPI) profiling, network analysis and molecular docking and dynamics simulations, to prioritize genomic targets and their associated toxicants. The study constructed a PPI network for CHD and identified key proteins includings GATA4, GATA6, NKX2-5, TBX5, MYH6, MYH11, TLL1, ANKRD1, CFC1, CRELD1, ZIC3, ACTC1, TBX20, TBX1, and HAND2. Fourteen maternal toxicants were reviewed and validated as potential causes of developmental toxicity using the Comparative Toxicogenomics Database (CTD). The minimum binding affinities of "Benzo[a]pyrene-7,8-diol-9,10-epoxide (BPDE)" against proteins TBX20, TLL1, NKX2-5, HAND2, ZIC3, and ACTC1, were -9.6, -9.5, -8.8, -8.7, -8.7, and -8.5 (kcal/mol), respectively compared to other toxicants. The residues PHE425 of TBX20 and PHE235 of TLL1 illustrated a strong bonding pattern with BPDE and demonstrated lower root mean square fluctuation (RMSF). Additionally, the compound it was found to inhibit hERG II channels, which could imply potential cardio-toxic effects. The study revealed that environmental toxicants during early pregnancy could inhibit the expression of prioritized heart developmental genes, highlighting the need for further in-vitro and in-vivo validation. - Source: PubMed
Publication date: 2025/05/10
Shukla Adarsh KumarKukshal Prachi - Pre-eclampsia (PE) is a common complication of pregnancy and there is an urgent need for new drug targets. We performed whole proteome-wide Mendelian randomisation (MR) and colocalisation analyses to identify potential therapeutic targets for PE. - Source: PubMed
Xu YuexinPan YingziWu ChengqianZhao TingtingMiao JiayanJi Xiaohong