SGCD Peptide
- Known as:
- SGCD Peptide
- Catalog number:
- 42-836p
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Prosci
- Gene target:
- SGCD Peptide
Related genes to: SGCD Peptide
- Gene:
- SGCD NIH gene
- Name:
- sarcoglycan delta
- Previous symbol:
- -
- Synonyms:
- DAGD, LGMD2F, CMD1L
- Chromosome:
- 5q33.2-q33.3
- Locus Type:
- gene with protein product
- Date approved:
- 1997-07-22
- Date modifiied:
- 2019-04-23
Related products to: SGCD Peptide
Related articles to: SGCD Peptide
- Risperidone is a commonly used antipsychotic for treating psychiatric illness in children and adolescents. There is a large variability in risperidone response and discontinuation rates remain high. Pharmacogenomics offers the opportunity to improve risperidone outcomes, yet studies in pediatric populations are limited. We conducted a genome-wide association study (GWAS) to investigate genetic predictors of risperidone response in pediatric patients (n = 161) who received inpatient care at a pediatric hospital in a rural setting. Clinical, demographic, and treatment outcomes data, collected retrospectively, were incorporated into predictive models. While 41.0% of patients discontinued risperidone, patients remained on risperidone longer than other antipsychotics, with the exception of quetiapine. Female patients discontinued more quickly, as did patients in the acute program compared to residential. We identified nine genetic variants associated with risperidone outcomes: duration of risperidone treatment and frequency of risperidone discontinuation (rs10270303, intronic variant, PTPRN2), maximum risperidone dose (rs6014649, intergenic variant between CBLN4 and MC3R; rs56261530, synonymous variant, SHD), time to readmission (rs35722167, intergenic variant between UGT2A3 and UGT2B7; rs62382382, intronic variant, SGCD; rs62466698, intergenic variant between BET1 and GNG11; rs1152938, intronic variant, CPM), and duration of hospital stay (rs117426990, 3'-UTR variant, TMX3; rs5956073, intergenic variant between DOCK11 and LINC01285). Our study is the first GWAS of risperidone response in pediatric populations, which provides insights into the biological complexity of risperidone response, as well as moving toward precision antipsychotic treatment. Our study demonstrates the high value of conducting research in a community-based setting and highlights the need to expand research studies beyond academic medical centers. - Source: PubMed
Publication date: 2026/04/14
Staples Jack WKillam Shayna RBrown Karen EDalton RachelSather ElizabethChen QiangLoveland JoshuaSchwanke CorbinElias Abdallah FBigos Kristin LWoodahl Erica L - 2-Ethylhexanol, a common component of plasticizers and solvents, is increasingly detected in aquatic environments and may pose ecological risks. This study evaluated the sublethal effects of 2-ethylhexanol on Daphnia magna by integrating physiological, biochemical, behavioral, and transcriptional markers related to cardiac function and nervous system activity. D. magna were exposed to 0.69, 1.75, 6.25, and 19.23 mg/L 2-ethylhexanol for 48 h, and endpoints included cardiac and thoracic limb activity, swimming behavior, neurochemical markers [acetylcholinesterase (AChE), dopamine (DA)], oxidative stress indicators [catalase (CAT), total nitric oxide (NO), superoxide dismutase (SOD), glutathione peroxidase (GSH-Px)], and transcription of cardio- and neurotoxicity-related genes. Exposure caused dose-dependent inhibition of cardiac rhythm and thoracic limb movement, together with neurobehavioral alterations, including reduced body contact time and increased turn angle, accompanied by decreased DA levels and suppressed AChE activity. Dysregulation of cardiomyopathy-associated genes (sgcd, adcy5_1, gclm, and tpm3) and neurotoxicity-related genes (drd2, slc6a3, and slc6a6) indicated mechanistic links to oxidative stress-mediated cardio-neurotoxicity. Oxidative stress responses were characterized by increased CAT, NO, SOD, and GSH-Px activity, with SOD consistently upregulated at all concentrations. Collectively, these physiological, biochemical, behavioral, and molecular alterations demonstrate that 2-ethylhexanol induces cardiotoxicity and neurobehavioral impairment in D. magna, likely via oxidative stress, with potential to disrupt predator-prey interactions in aquatic ecosystems. These findings support the use of D. magna as a sensitive model for sub-organismal toxicity and the need to re-evaluate environmental safety thresholds for 2-ethylhexanol and similar plasticizer-related contaminants. - Source: PubMed
Publication date: 2026/04/06
Eghan KojoLee SuyeonKamrus Aesha SamawatLee SangwooKim Woo-Keun - BACKGROUND: Dilated cardiomyopathy (DCM) is a leading cause of heart failure, often resulting in reduced ejection fraction and progressive cardiac dysfunction. Although up to half of idiopathic DCM can be linked to genetic variants, many familial cases still lack a definitive molecular diagnosis. Sarcoglycan delta (SGCD) encodes a crucial component of the dystrophin-glycoprotein complex, and variants in this gene have been implicated in both muscular dystrophies and cardiomyopathies. METHODS: We evaluated a three-year-old girl presenting with a confirmed diagnosis of DCM. Clinical assessments included echocardiography and cardiac magnetic resonance imaging (CMR), revealing moderate-to-severe systolic and diastolic dysfunction. Whole exome sequencing (WES) was performed to investigate potential causative variants. In silico analysis and Sanger sequencing were used to confirm and characterize any identified alteration in the proband and her parents. RESULTS: WES identified a novel heterozygous SGCD variant, NM_000337.6(SGCD): c.647 A > T, p.(Asn216Ile), located in exon 8. Sanger sequencing confirmed this variant’s presence in the proband and her father, suggesting a familial inheritance pattern. In silico predictive tools supported a likely deleterious effect of the variant,, with functional analysis indicating possible disruption of δ-Sarcoglycan’s structure. This variant was absent in public variant databases, underscoring its rarity. Comparative evaluation of known SGCD variants further highlighted exon 8 as a possible mutational hotspot in DCM. CONCLUSION: These findings expand the variant spectrum of SGCD and reinforce its role in familial DCM. Genetic screening for SGCD variants in individuals with idiopathic or familial cardiomyopathy can improve early diagnosis, guide targeted interventions, and inform genetic counseling. Our results underscore the clinical importance of integrating molecular diagnostics to enhance personalized management of DCM. - Source: PubMed
Publication date: 2026/03/17
Kalayinia SamiraPoopak AmirhosseinSoveizi MahdiehMaleki Majid - Limb-girdle muscular dystrophies (LGMDs) represent a varied group of genetic disorders characterised by the progressive weakening and atrophy of proximal muscles, particularly those in the shoulders and hips. These conditions are inherited in either an autosomal dominant or recessive pattern, with numerous genes implicated in their pathogenesis. Clinically, LGMDs are marked by a gradual decline in muscle function, often resulting in significant mobility impairments. In this study, we identify and characterise a novel homozygous deletion mutation, c.572_574delTAA, in the gene in a consanguineous Iranian family affected by LGMD2F. The patient, a 10.5-year-old boy, exhibited progressive muscle weakness alongside specific clinical features such as contractures and scoliosis. Genetic analysis revealed that this deletion caused a p.Leu191del alteration in the δ-sarcoglycan protein. The mutation was confirmed via Sanger sequencing and found to co-segregate with the disease phenotype within the family. These findings provide new insights into the genetic basis of LGMD2F, underscoring the critical role of comprehensive genetic analysis for accurate diagnosis and management. This study contributes to the broader understanding of the genetic diversity of LGMDs and highlights the need for ongoing research to enhance diagnostic and therapeutic approaches. - Source: PubMed
Publication date: 2026/02/17
Sakhaei AminMohammadi-Asl Javad - Pompe disease (PD) is a rare inherited recessive autosomal disorder caused by pathogenic nucleotide variants within the gene , encoding Acid alpha-glucosidase (GAA), the lysosomal enzyme catalyzing glycogen breakdown to glucose. - Source: PubMed
Publication date: 2026/01/29
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