{"gene":"SNTG1","run_date":"2026-04-28T20:42:08","timeline":{"discoveries":[{"year":2004,"finding":"SNTG1 (gamma1-syntrophin) gene encodes a neuronal cell-specific cytoplasmic peripheral membrane protein that associates directly with dystrophin; a chromosomal inversion breakpoint between exons 10 and 11 of SNTG1 co-segregates with idiopathic scoliosis in a family, implicating SNTG1 disruption in the disorder.","method":"FISH mapping of chromosomal breakpoints, genomic sequencing of BAC clones spanning breakpoints, mutational analysis of SNTG1 exons in 152 sporadic IS patients","journal":"Human genetics","confidence":"Medium","confidence_rationale":"Tier 2 — direct genomic/positional mapping with functional context (dystrophin-associated complex membership), single study","pmids":["15088139"],"is_preprint":false},{"year":2021,"finding":"SNTG1 disruption (interstitial deletion 8q11.21q11.23) in a patient with scoliosis and cognitive impairment further supports that gamma1-syntrophin, as part of the dystrophin-associated protein complex interacting with the C-terminal of dystrophin and expressed specifically in neurons (including brain regions implicated in postural control), contributes to scoliosis pathogenesis.","method":"Array-CGH identification of de novo deletion disrupting SNTG1; clinical phenotyping","journal":"Bone","confidence":"Low","confidence_rationale":"Tier 3 — single case CNV report, no direct functional assay of the protein mechanism","pmids":["34048959"],"is_preprint":false}],"current_model":"SNTG1 encodes gamma1-syntrophin, a neuronal cell-specific cytoplasmic peripheral membrane protein that is part of the dystrophin-associated protein complex through direct interaction with the C-terminus of dystrophin; disruption of SNTG1 is genetically linked to idiopathic scoliosis, but the precise molecular mechanism by which gamma1-syntrophin functions remains poorly characterized in the available literature."},"narrative":{"teleology":[{"year":2004,"claim":"Positional cloning of a chromosomal inversion breakpoint within SNTG1 established that this neuronal dystrophin-associated protein complex member is a candidate gene for idiopathic scoliosis, answering the question of which gene at 8q11-q12 underlies the phenotype in the affected family.","evidence":"FISH mapping and BAC sequencing of inversion breakpoints in a scoliosis family; mutational screening of SNTG1 exons in 152 sporadic patients","pmids":["15088139"],"confidence":"Medium","gaps":["No functional assay demonstrated how loss of gamma-1 syntrophin leads to scoliosis","No causative point mutations were identified in sporadic scoliosis patients screened","Interaction partners beyond dystrophin in neurons are uncharacterized"]},{"year":2021,"claim":"A second independent genomic disruption of SNTG1 (de novo deletion) in a patient with scoliosis and cognitive impairment provided supporting genetic evidence, reinforcing that gamma-1 syntrophin dysfunction contributes to scoliosis pathogenesis through its neuronal expression.","evidence":"Array-CGH identification of de novo 8q11.21q11.23 deletion disrupting SNTG1; clinical phenotyping","pmids":["34048959"],"confidence":"Low","gaps":["Single case report without functional rescue or model organism validation","Deletion encompasses additional genomic material, so causality is not isolated to SNTG1","No mechanistic link between dystrophin complex disruption in neurons and spinal phenotype has been established"]},{"year":null,"claim":"The molecular function of gamma-1 syntrophin within the dystrophin-associated complex in neurons — including its specific binding partners beyond dystrophin, signaling roles, and the mechanism linking its loss to scoliosis — remains unresolved.","evidence":"","pmids":[],"confidence":"Low","gaps":["No biochemical or structural characterization of gamma-1 syntrophin's domains or interactors beyond dystrophin","No animal model with targeted SNTG1 disruption has been reported for phenotypic analysis","Neuronal signaling pathways downstream of gamma-1 syntrophin are unknown"]}],"mechanism_profile":{"molecular_activity":[],"localization":[{"term_id":"GO:0005886","term_label":"plasma membrane","supporting_discovery_ids":[0]}],"pathway":[],"complexes":["dystrophin-associated protein complex"],"partners":["DMD"],"other_free_text":[]},"mechanistic_narrative":"SNTG1 encodes gamma-1 syntrophin, a neuronal cell-specific cytoplasmic peripheral membrane protein that associates directly with the C-terminus of dystrophin as part of the dystrophin-associated protein complex [PMID:15088139]. Chromosomal disruption of SNTG1 co-segregates with idiopathic scoliosis in a family study and in an independent case with a de novo interstitial deletion, implicating gamma-1 syntrophin in postural control pathways [PMID:15088139, PMID:34048959]. The precise molecular mechanism by which gamma-1 syntrophin functions within the dystrophin-associated complex in neurons remains poorly characterized."},"prefetch_data":{"uniprot":{"accession":"Q9NSN8","full_name":"Gamma-1-syntrophin","aliases":["Syntrophin-4","SYN4"],"length_aa":517,"mass_kda":58.0,"function":"Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity). May participate in regulating the subcellular location of diacylglycerol kinase-zeta to ensure that diacylglycerol is rapidly inactivated following receptor activation","subcellular_location":"Cytoplasm, cytoskeleton; Nucleus","url":"https://www.uniprot.org/uniprotkb/Q9NSN8/entry"},"depmap":{"release":"DepMap","has_data":true,"is_common_essential":false,"resolved_as":"","url":"https://depmap.org/portal/gene/SNTG1","classification":"Not Classified","n_dependent_lines":1,"n_total_lines":1208,"dependency_fraction":0.0008278145695364238},"opencell":{"profiled":false,"resolved_as":"","ensg_id":"","cell_line_id":"","localizations":[],"interactors":[],"url":"https://opencell.sf.czbiohub.org/search/SNTG1","total_profiled":1310},"omim":[{"mim_id":"608765","title":"SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3; IS3","url":"https://www.omim.org/entry/608765"},{"mim_id":"608715","title":"SYNTROPHIN, GAMMA-2; SNTG2","url":"https://www.omim.org/entry/608715"},{"mim_id":"608714","title":"SYNTROPHIN, GAMMA-1; SNTG1","url":"https://www.omim.org/entry/608714"}],"hpa":{"profiled":true,"resolved_as":"","reliability":"","locations":[],"tissue_specificity":"Tissue enhanced","tissue_distribution":"Detected in some","driving_tissues":[{"tissue":"brain","ntpm":4.7},{"tissue":"lymphoid tissue","ntpm":2.6}],"url":"https://www.proteinatlas.org/search/SNTG1"},"hgnc":{"alias_symbol":["SYN4","G1SYN"],"prev_symbol":[]},"alphafold":{"accession":"Q9NSN8","domains":[{"cath_id":"2.30.29.30","chopping":"13-42_206-252","consensus_level":"high","plddt":92.2738,"start":13,"end":252},{"cath_id":"2.30.42.10","chopping":"45-141","consensus_level":"medium","plddt":86.0154,"start":45,"end":141},{"cath_id":"2.30.29.30","chopping":"278-393","consensus_level":"high","plddt":92.026,"start":278,"end":393},{"cath_id":"2.30.29.30","chopping":"397-474_483-499","consensus_level":"high","plddt":92.194,"start":397,"end":499}],"viewer_url":"https://alphafold.ebi.ac.uk/entry/Q9NSN8","model_url":"https://alphafold.ebi.ac.uk/files/AF-Q9NSN8-F1-model_v6.cif","pae_url":"https://alphafold.ebi.ac.uk/files/AF-Q9NSN8-F1-predicted_aligned_error_v6.png","plddt_mean":82.38},"mouse_models":{"mgi_url":"https://www.informatics.jax.org/marker/summary?nomen=SNTG1","jax_strain_url":"https://www.jax.org/strain/search?query=SNTG1"},"sequence":{"accession":"Q9NSN8","fasta_url":"https://rest.uniprot.org/uniprotkb/Q9NSN8.fasta","uniprot_url":"https://www.uniprot.org/uniprotkb/Q9NSN8/entry","alphafold_viewer_url":"https://alphafold.ebi.ac.uk/entry/Q9NSN8"}},"corpus_meta":[{"pmid":"18403410","id":"PMC_18403410","title":"Directional migration of neural crest cells in vivo is regulated by Syndecan-4/Rac1 and non-canonical Wnt signaling/RhoA.","date":"2008","source":"Development (Cambridge, England)","url":"https://pubmed.ncbi.nlm.nih.gov/18403410","citation_count":226,"is_preprint":false},{"pmid":"10421575","id":"PMC_10421575","title":"Depletion of syntaxins in the early Caenorhabditis elegans embryo reveals a role for membrane fusion events in cytokinesis.","date":"1999","source":"Current biology : CB","url":"https://pubmed.ncbi.nlm.nih.gov/10421575","citation_count":136,"is_preprint":false},{"pmid":"11375421","id":"PMC_11375421","title":"Syntaxin 4 heterozygous knockout mice develop muscle insulin resistance.","date":"2001","source":"The Journal of clinical investigation","url":"https://pubmed.ncbi.nlm.nih.gov/11375421","citation_count":98,"is_preprint":false},{"pmid":"25216363","id":"PMC_25216363","title":"Dynamic catch of a Thy-1-α5β1+syndecan-4 trimolecular complex.","date":"2014","source":"Nature communications","url":"https://pubmed.ncbi.nlm.nih.gov/25216363","citation_count":87,"is_preprint":false},{"pmid":"21493899","id":"PMC_21493899","title":"Syndecan-4 prevents cardiac rupture and dysfunction after myocardial infarction.","date":"2011","source":"Circulation research","url":"https://pubmed.ncbi.nlm.nih.gov/21493899","citation_count":84,"is_preprint":false},{"pmid":"23132338","id":"PMC_23132338","title":"Syntaxin-3 regulates newcomer insulin granule exocytosis and compound fusion in pancreatic beta cells.","date":"2012","source":"Diabetologia","url":"https://pubmed.ncbi.nlm.nih.gov/23132338","citation_count":67,"is_preprint":false},{"pmid":"15331531","id":"PMC_15331531","title":"Syntaxin 4 transgenic mice exhibit enhanced insulin-mediated glucose uptake in skeletal muscle.","date":"2004","source":"Diabetes","url":"https://pubmed.ncbi.nlm.nih.gov/15331531","citation_count":59,"is_preprint":false},{"pmid":"21151896","id":"PMC_21151896","title":"Genomic aberrations in lung adenocarcinoma in never smokers.","date":"2010","source":"PloS one","url":"https://pubmed.ncbi.nlm.nih.gov/21151896","citation_count":58,"is_preprint":false},{"pmid":"19533160","id":"PMC_19533160","title":"Cohesin gene defects may impair sister chromatid alignment and genome stability in Arabidopsis thaliana.","date":"2009","source":"Chromosoma","url":"https://pubmed.ncbi.nlm.nih.gov/19533160","citation_count":45,"is_preprint":false},{"pmid":"19144724","id":"PMC_19144724","title":"A role for Syndecan-4 in neural induction involving ERK- and PKC-dependent pathways.","date":"2009","source":"Development (Cambridge, England)","url":"https://pubmed.ncbi.nlm.nih.gov/19144724","citation_count":42,"is_preprint":false},{"pmid":"15088139","id":"PMC_15088139","title":"SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis.","date":"2004","source":"Human genetics","url":"https://pubmed.ncbi.nlm.nih.gov/15088139","citation_count":41,"is_preprint":false},{"pmid":"12882905","id":"PMC_12882905","title":"Insulin resistance in tetracycline-repressible Munc18c transgenic mice.","date":"2003","source":"Diabetes","url":"https://pubmed.ncbi.nlm.nih.gov/12882905","citation_count":39,"is_preprint":false},{"pmid":"17451559","id":"PMC_17451559","title":"Alcohol redirects CCK-mediated apical exocytosis to the acinar basolateral membrane in alcoholic pancreatitis.","date":"2007","source":"Traffic (Copenhagen, Denmark)","url":"https://pubmed.ncbi.nlm.nih.gov/17451559","citation_count":39,"is_preprint":false},{"pmid":"22108804","id":"PMC_22108804","title":"Gelsolin associates with the N terminus of syntaxin 4 to regulate insulin granule exocytosis.","date":"2011","source":"Molecular endocrinology (Baltimore, Md.)","url":"https://pubmed.ncbi.nlm.nih.gov/22108804","citation_count":36,"is_preprint":false},{"pmid":"10629564","id":"PMC_10629564","title":"Expression pattern alterations of syndecans and glypican-1 in normal and pathological trophoblast.","date":"1999","source":"The Journal of pathology","url":"https://pubmed.ncbi.nlm.nih.gov/10629564","citation_count":35,"is_preprint":false},{"pmid":"25762204","id":"PMC_25762204","title":"Syntaxin-4 mediates exocytosis of pre-docked and newcomer insulin granules underlying biphasic glucose-stimulated insulin secretion in human pancreatic beta cells.","date":"2015","source":"Diabetologia","url":"https://pubmed.ncbi.nlm.nih.gov/25762204","citation_count":35,"is_preprint":false},{"pmid":"27031623","id":"PMC_27031623","title":"QTL Mapping of Low-Temperature Germination Ability in the Maize IBM Syn4 RIL Population.","date":"2016","source":"PloS one","url":"https://pubmed.ncbi.nlm.nih.gov/27031623","citation_count":34,"is_preprint":false},{"pmid":"28062282","id":"PMC_28062282","title":"Coupling of vinculin to F-actin demands Syndecan-4 proteoglycan.","date":"2017","source":"Matrix biology : journal of the International Society for Matrix Biology","url":"https://pubmed.ncbi.nlm.nih.gov/28062282","citation_count":33,"is_preprint":false},{"pmid":"17488242","id":"PMC_17488242","title":"The Arabidopsis cohesin protein SYN3 localizes to the nucleolus and is essential for gametogenesis.","date":"2007","source":"The Plant journal : for cell and molecular biology","url":"https://pubmed.ncbi.nlm.nih.gov/17488242","citation_count":33,"is_preprint":false},{"pmid":"12209563","id":"PMC_12209563","title":"Localization of the transmembrane proteoglycan syndecan-4 and its regulatory kinases in costameres of rat cardiomyocytes: a deconvolution microscopic study.","date":"2002","source":"The Anatomical record","url":"https://pubmed.ncbi.nlm.nih.gov/12209563","citation_count":30,"is_preprint":false},{"pmid":"21330609","id":"PMC_21330609","title":"Syndecan-4 deficiency limits neointimal formation after vascular injury by regulating vascular smooth muscle cell proliferation and vascular progenitor cell mobilization.","date":"2011","source":"Arteriosclerosis, thrombosis, and vascular biology","url":"https://pubmed.ncbi.nlm.nih.gov/21330609","citation_count":28,"is_preprint":false},{"pmid":"22381039","id":"PMC_22381039","title":"The Arabidopsis SYN3 cohesin protein is important for early meiotic events.","date":"2012","source":"The Plant journal : for cell and molecular biology","url":"https://pubmed.ncbi.nlm.nih.gov/22381039","citation_count":26,"is_preprint":false},{"pmid":"27143125","id":"PMC_27143125","title":"Syndecan-4 modulates the proliferation of neural cells and the formation of CaP axons during zebrafish embryonic neurogenesis.","date":"2016","source":"Scientific reports","url":"https://pubmed.ncbi.nlm.nih.gov/27143125","citation_count":25,"is_preprint":false},{"pmid":"15001228","id":"PMC_15001228","title":"Role of Syndecan-4 in the cellular invasion of Orientia tsutsugamushi.","date":"2004","source":"Microbial pathogenesis","url":"https://pubmed.ncbi.nlm.nih.gov/15001228","citation_count":24,"is_preprint":false},{"pmid":"23252429","id":"PMC_23252429","title":"Polyphenols differentially inhibit degranulation of distinct subsets of vesicles in mast cells by specific interaction with granule-type-dependent SNARE complexes.","date":"2013","source":"The Biochemical journal","url":"https://pubmed.ncbi.nlm.nih.gov/23252429","citation_count":24,"is_preprint":false},{"pmid":"27439403","id":"PMC_27439403","title":"Measurement of lipocalin-2 and syndecan-4 levels to differentiate bacterial from viral infection in children with community-acquired pneumonia.","date":"2016","source":"BMC pulmonary medicine","url":"https://pubmed.ncbi.nlm.nih.gov/27439403","citation_count":22,"is_preprint":false},{"pmid":"21314952","id":"PMC_21314952","title":"Bioinformatic analyses identifies novel protein-coding pharmacogenomic markers associated with paclitaxel sensitivity in NCI60 cancer cell lines.","date":"2011","source":"BMC medical genomics","url":"https://pubmed.ncbi.nlm.nih.gov/21314952","citation_count":22,"is_preprint":false},{"pmid":"34242344","id":"PMC_34242344","title":"QTL mapping of seedling tolerance to exposure to low temperature in the maize IBM RIL population.","date":"2021","source":"PloS one","url":"https://pubmed.ncbi.nlm.nih.gov/34242344","citation_count":22,"is_preprint":false},{"pmid":"20838928","id":"PMC_20838928","title":"Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease).","date":"2010","source":"Journal of molecular neuroscience : MN","url":"https://pubmed.ncbi.nlm.nih.gov/20838928","citation_count":22,"is_preprint":false},{"pmid":"26331606","id":"PMC_26331606","title":"Syntaxin 4 Overexpression Ameliorates Effects of Aging and High-Fat Diet on Glucose Control and Extends Lifespan.","date":"2015","source":"Cell metabolism","url":"https://pubmed.ncbi.nlm.nih.gov/26331606","citation_count":21,"is_preprint":false},{"pmid":"34992631","id":"PMC_34992631","title":"Genetic Contributors of Incident Stroke in 10,700 African Americans With Hypertension: A Meta-Analysis From the Genetics of Hypertension Associated Treatments and Reasons for Geographic and Racial Differences in Stroke Studies.","date":"2021","source":"Frontiers in genetics","url":"https://pubmed.ncbi.nlm.nih.gov/34992631","citation_count":16,"is_preprint":false},{"pmid":"34364112","id":"PMC_34364112","title":"Mutational landscape of primary pulmonary salivary gland-type tumors through targeted next-generation sequencing.","date":"2021","source":"Lung cancer (Amsterdam, Netherlands)","url":"https://pubmed.ncbi.nlm.nih.gov/34364112","citation_count":15,"is_preprint":false},{"pmid":"35610344","id":"PMC_35610344","title":"No association between intravenous fluid volume and endothelial glycocalyx shedding in patients undergoing resuscitation for sepsis in the emergency department.","date":"2022","source":"Scientific reports","url":"https://pubmed.ncbi.nlm.nih.gov/35610344","citation_count":13,"is_preprint":false},{"pmid":"32534097","id":"PMC_32534097","title":"Expression of circular RNAs in the vascular dementia rats.","date":"2020","source":"Neuroscience letters","url":"https://pubmed.ncbi.nlm.nih.gov/32534097","citation_count":13,"is_preprint":false},{"pmid":"33527022","id":"PMC_33527022","title":"Identification of key miRNA-gene pairs in gastric cancer through integrated analysis of mRNA and miRNA microarray.","date":"2021","source":"American journal of translational research","url":"https://pubmed.ncbi.nlm.nih.gov/33527022","citation_count":12,"is_preprint":false},{"pmid":"39738056","id":"PMC_39738056","title":"SEAD reference panel with 22,134 haplotypes boosts rare variant imputation and genome-wide association analysis in Asian populations.","date":"2024","source":"Nature communications","url":"https://pubmed.ncbi.nlm.nih.gov/39738056","citation_count":11,"is_preprint":false},{"pmid":"34440387","id":"PMC_34440387","title":"Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis.","date":"2021","source":"Genes","url":"https://pubmed.ncbi.nlm.nih.gov/34440387","citation_count":11,"is_preprint":false},{"pmid":"38537933","id":"PMC_38537933","title":"Serum Fusion Transcripts to Assess the Risk of Hepatocellular Carcinoma and the Impact of Cancer Treatment through Machine Learning.","date":"2024","source":"The American journal of pathology","url":"https://pubmed.ncbi.nlm.nih.gov/38537933","citation_count":10,"is_preprint":false},{"pmid":"30112632","id":"PMC_30112632","title":"Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer's Disease.","date":"2018","source":"Molecular neurobiology","url":"https://pubmed.ncbi.nlm.nih.gov/30112632","citation_count":8,"is_preprint":false},{"pmid":"35987623","id":"PMC_35987623","title":"Abnormal TNS3 gene methylation in patients with congenital scoliosis.","date":"2022","source":"BMC musculoskeletal disorders","url":"https://pubmed.ncbi.nlm.nih.gov/35987623","citation_count":7,"is_preprint":false},{"pmid":"37062769","id":"PMC_37062769","title":"Effect of intravenous fluid volume on biomarkers of endothelial glycocalyx shedding and inflammation during initial resuscitation of sepsis.","date":"2023","source":"Intensive care medicine experimental","url":"https://pubmed.ncbi.nlm.nih.gov/37062769","citation_count":7,"is_preprint":false},{"pmid":"24656235","id":"PMC_24656235","title":"Expression of epitope-tagged SYN3 cohesin proteins can disrupt meiosis in Arabidopsis.","date":"2013","source":"Journal of genetics and genomics = Yi chuan xue bao","url":"https://pubmed.ncbi.nlm.nih.gov/24656235","citation_count":7,"is_preprint":false},{"pmid":"26100207","id":"PMC_26100207","title":"Crystal structure of syndesmos and its interaction with Syndecan-4 proteoglycan.","date":"2015","source":"Biochemical and biophysical research communications","url":"https://pubmed.ncbi.nlm.nih.gov/26100207","citation_count":6,"is_preprint":false},{"pmid":"29290962","id":"PMC_29290962","title":"Pharmacogenetics of response to neoadjuvant paclitaxel treatment for locally advanced breast cancer.","date":"2017","source":"Oncotarget","url":"https://pubmed.ncbi.nlm.nih.gov/29290962","citation_count":5,"is_preprint":false},{"pmid":"32915819","id":"PMC_32915819","title":"Investigation of gene-gene interactions in cardiac traits and serum fatty acid levels in the LURIC Health Study.","date":"2020","source":"PloS one","url":"https://pubmed.ncbi.nlm.nih.gov/32915819","citation_count":4,"is_preprint":false},{"pmid":"37982029","id":"PMC_37982029","title":"Extracellular vesicle treatment partially reverts epigenetic alterations in chronically ischemic porcine myocardium.","date":"2023","source":"Vessel plus","url":"https://pubmed.ncbi.nlm.nih.gov/37982029","citation_count":4,"is_preprint":false},{"pmid":"21391118","id":"PMC_21391118","title":"Synthesis of syn-4,6-dimethyldodecanal, the male sex pheromone and trail-following pheromone of two species of the termite Zootermopsis.","date":"2011","source":"Natural product research","url":"https://pubmed.ncbi.nlm.nih.gov/21391118","citation_count":3,"is_preprint":false},{"pmid":"40000390","id":"PMC_40000390","title":"Mapping the landscape of childhood obesity: genomic insights and socioeconomic status in Indian school-going children.","date":"2025","source":"Obesity (Silver Spring, Md.)","url":"https://pubmed.ncbi.nlm.nih.gov/40000390","citation_count":3,"is_preprint":false},{"pmid":"37406763","id":"PMC_37406763","title":"Towards universal synthetic heterotrophy using a metabolic coordinator.","date":"2023","source":"Metabolic engineering","url":"https://pubmed.ncbi.nlm.nih.gov/37406763","citation_count":3,"is_preprint":false},{"pmid":"38591778","id":"PMC_38591778","title":"Effects of syndecan-4 silencing on the extracellular matrix remodeling in anoikis-resistant endothelial cells.","date":"2024","source":"Cell biology international","url":"https://pubmed.ncbi.nlm.nih.gov/38591778","citation_count":3,"is_preprint":false},{"pmid":"34048959","id":"PMC_34048959","title":"Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption.","date":"2021","source":"Bone","url":"https://pubmed.ncbi.nlm.nih.gov/34048959","citation_count":2,"is_preprint":false},{"pmid":"36079661","id":"PMC_36079661","title":"Location and Identification on Chromosome 3B of Bread Wheat of Genes Affecting Chiasma Number.","date":"2022","source":"Plants (Basel, Switzerland)","url":"https://pubmed.ncbi.nlm.nih.gov/36079661","citation_count":2,"is_preprint":false},{"pmid":"23201414","id":"PMC_23201414","title":"Cellular localization of mitotic RAD21 with repetitive amino acid motifs in Allium cepa.","date":"2012","source":"Gene","url":"https://pubmed.ncbi.nlm.nih.gov/23201414","citation_count":2,"is_preprint":false},{"pmid":"40057047","id":"PMC_40057047","title":"Maize SERRATE 1B positively regulates seed germinability under low-temperature.","date":"2025","source":"Plant science : an international journal of experimental plant biology","url":"https://pubmed.ncbi.nlm.nih.gov/40057047","citation_count":1,"is_preprint":false},{"pmid":"39380384","id":"PMC_39380384","title":"Enhancement of the flavor and functional characteristics of cod protein isolate using an enzyme-microbe system.","date":"2024","source":"Food & function","url":"https://pubmed.ncbi.nlm.nih.gov/39380384","citation_count":0,"is_preprint":false},{"pmid":"41389483","id":"PMC_41389483","title":"Synergistic glyphosate degradation in a rice-duckweed-microbe system: Mechanistic insights and sustainable remediation potential.","date":"2025","source":"Journal of hazardous materials","url":"https://pubmed.ncbi.nlm.nih.gov/41389483","citation_count":0,"is_preprint":false}],"cost":{"stage1":{"model":"claude-sonnet-4-6","input_tokens":30533,"output_tokens":579,"usd":0.050142},"stage2":{"model":"claude-opus-4-6","input_tokens":3743,"output_tokens":935,"usd":0.063135},"total_usd":0.113277,"stage1_batch_id":"msgbatch_011rkcQdVV1RaFq9XhcG6df6","stage2_batch_id":"msgbatch_01RzgrJafdF4EWHhj5mNi6dh","note":"batch pricing = 50% of standard"},"stage1_raw":"```json\n{\n  \"discoveries\": [\n    {\n      \"year\": 2004,\n      \"finding\": \"SNTG1 (gamma1-syntrophin) gene encodes a neuronal cell-specific cytoplasmic peripheral membrane protein that associates directly with dystrophin; a chromosomal inversion breakpoint between exons 10 and 11 of SNTG1 co-segregates with idiopathic scoliosis in a family, implicating SNTG1 disruption in the disorder.\",\n      \"method\": \"FISH mapping of chromosomal breakpoints, genomic sequencing of BAC clones spanning breakpoints, mutational analysis of SNTG1 exons in 152 sporadic IS patients\",\n      \"journal\": \"Human genetics\",\n      \"confidence\": \"Medium\",\n      \"confidence_rationale\": \"Tier 2 — direct genomic/positional mapping with functional context (dystrophin-associated complex membership), single study\",\n      \"pmids\": [\"15088139\"],\n      \"is_preprint\": false\n    },\n    {\n      \"year\": 2021,\n      \"finding\": \"SNTG1 disruption (interstitial deletion 8q11.21q11.23) in a patient with scoliosis and cognitive impairment further supports that gamma1-syntrophin, as part of the dystrophin-associated protein complex interacting with the C-terminal of dystrophin and expressed specifically in neurons (including brain regions implicated in postural control), contributes to scoliosis pathogenesis.\",\n      \"method\": \"Array-CGH identification of de novo deletion disrupting SNTG1; clinical phenotyping\",\n      \"journal\": \"Bone\",\n      \"confidence\": \"Low\",\n      \"confidence_rationale\": \"Tier 3 — single case CNV report, no direct functional assay of the protein mechanism\",\n      \"pmids\": [\"34048959\"],\n      \"is_preprint\": false\n    }\n  ],\n  \"current_model\": \"SNTG1 encodes gamma1-syntrophin, a neuronal cell-specific cytoplasmic peripheral membrane protein that is part of the dystrophin-associated protein complex through direct interaction with the C-terminus of dystrophin; disruption of SNTG1 is genetically linked to idiopathic scoliosis, but the precise molecular mechanism by which gamma1-syntrophin functions remains poorly characterized in the available literature.\"\n}\n```","stage2_raw":"```json\n{\n  \"mechanistic_narrative\": \"SNTG1 encodes gamma-1 syntrophin, a neuronal cell-specific cytoplasmic peripheral membrane protein that associates directly with the C-terminus of dystrophin as part of the dystrophin-associated protein complex [PMID:15088139]. Chromosomal disruption of SNTG1 co-segregates with idiopathic scoliosis in a family study and in an independent case with a de novo interstitial deletion, implicating gamma-1 syntrophin in postural control pathways [PMID:15088139, PMID:34048959]. The precise molecular mechanism by which gamma-1 syntrophin functions within the dystrophin-associated complex in neurons remains poorly characterized.\",\n  \"teleology\": [\n    {\n      \"year\": 2004,\n      \"claim\": \"Positional cloning of a chromosomal inversion breakpoint within SNTG1 established that this neuronal dystrophin-associated protein complex member is a candidate gene for idiopathic scoliosis, answering the question of which gene at 8q11-q12 underlies the phenotype in the affected family.\",\n      \"evidence\": \"FISH mapping and BAC sequencing of inversion breakpoints in a scoliosis family; mutational screening of SNTG1 exons in 152 sporadic patients\",\n      \"pmids\": [\"15088139\"],\n      \"confidence\": \"Medium\",\n      \"gaps\": [\n        \"No functional assay demonstrated how loss of gamma-1 syntrophin leads to scoliosis\",\n        \"No causative point mutations were identified in sporadic scoliosis patients screened\",\n        \"Interaction partners beyond dystrophin in neurons are uncharacterized\"\n      ]\n    },\n    {\n      \"year\": 2021,\n      \"claim\": \"A second independent genomic disruption of SNTG1 (de novo deletion) in a patient with scoliosis and cognitive impairment provided supporting genetic evidence, reinforcing that gamma-1 syntrophin dysfunction contributes to scoliosis pathogenesis through its neuronal expression.\",\n      \"evidence\": \"Array-CGH identification of de novo 8q11.21q11.23 deletion disrupting SNTG1; clinical phenotyping\",\n      \"pmids\": [\"34048959\"],\n      \"confidence\": \"Low\",\n      \"gaps\": [\n        \"Single case report without functional rescue or model organism validation\",\n        \"Deletion encompasses additional genomic material, so causality is not isolated to SNTG1\",\n        \"No mechanistic link between dystrophin complex disruption in neurons and spinal phenotype has been established\"\n      ]\n    },\n    {\n      \"year\": null,\n      \"claim\": \"The molecular function of gamma-1 syntrophin within the dystrophin-associated complex in neurons — including its specific binding partners beyond dystrophin, signaling roles, and the mechanism linking its loss to scoliosis — remains unresolved.\",\n      \"evidence\": \"\",\n      \"pmids\": [],\n      \"confidence\": \"Low\",\n      \"gaps\": [\n        \"No biochemical or structural characterization of gamma-1 syntrophin's domains or interactors beyond dystrophin\",\n        \"No animal model with targeted SNTG1 disruption has been reported for phenotypic analysis\",\n        \"Neuronal signaling pathways downstream of gamma-1 syntrophin are unknown\"\n      ]\n    }\n  ],\n  \"mechanism_profile\": {\n    \"molecular_activity\": [],\n    \"localization\": [\n      {\n        \"term_id\": \"GO:0005886\",\n        \"supporting_discovery_ids\": [0]\n      }\n    ],\n    \"pathway\": [],\n    \"complexes\": [\n      \"dystrophin-associated protein complex\"\n    ],\n    \"partners\": [\n      \"DMD\"\n    ],\n    \"other_free_text\": []\n  }\n}\n```"}