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available"],"species":["Human_adenovirus_54,human_adenovirus_a,human_adenovirus_b,human_adenovirus_c,human_adenovirus_d,human_adenovirus_e,human_adenovirus_f,human_adenovirus_g,human_astrovirus,human_bocavirus,human_bocavirus_2,human_bocavirus_3,human_bocavirus_4,human_coronavirus_229e,human_coronavirus_hku1,human_coronavirus_nl63,human_coronavirus_oc43,human_cosavirus_a,human_cosavirus_b,human_cosavirus_d,human_cosavirus_e,human_enteric_coronavirus_4408,human_enterovirus_100,human_enterovirus_a,human_enterovirus_b,human_enterovirus_c,human_enterovirus_d,human_erythrovirus_v9,human_herpesvirus_1,human_herpesvirus_2,human_herpesvirus_3,human_herpesvirus_4_type_1,human_herpesvirus_4_type_2,human_herpesvirus_5,human_herpesvirus_6a,human_herpesvirus_6b,human_herpesvirus_7,human_herpesvirus_8_type_p,human_immunodeficiency_virus_1,human_immunodeficiency_virus_2,human_metapneumovirus,human_papillomavirus_fa75_ki88_03,human_papillomavirus_rtrx7,human_papillomavirus_type_10,human_papillomavirus_type_100,human_papillomavirus_type_101,human_papillomavirus_type_103,human_papillomavirus_type_104,human_papillomavirus_type_105,human_papillomavirus_type_108,human_papillomavirus_type_109,human_papillomavirus_type_112,human_papillomavirus_type_113,human_papillomavirus_type_16,human_papillomavirus_type_24,human_papillomavirus_type_26,human_papillomavirus_type_32,human_papillomavirus_type_34,human_papillomavirus_type_4,human_papillomavirus_type_41,human_papillomavirus_type_48,human_papillomavirus_type_49,human_papillomavirus_type_5,human_papillomavirus_type_50,human_papillomavirus_type_53,human_papillomavirus_type_60,human_papillomavirus_type_63,human_papillomavirus_type_6b,human_papillomavirus_type_7,human_papillomavirus_type_71,human_papillomavirus_type_88,human_papillomavirus_type_9,human_papillomavirus_type_92,human_papillomavirus_type_96,human_papillomavirus_type_98,human_papillomavirus_type_99,human_papillomavirus___1,human_papillomavirus___18,human_papillomavirus___2,human_papillomavirus___54,human_papillomavirus___61,human_papillomavirus___cand90,human_parainfluenza_virus_1,human_parainfluenza_virus_2,human_parainfluenza_virus_3,human_parechovirus,human_parvovirus_4,human_parvovirus_b19,human_picobirnavirus,human_respiratory_syncytial_virus,human_rhinovirus_a,human_rhinovirus_b,human_rhinovirus_c,human_tmev_like_cardiovirus,human_t_lymphotropic_virus_1,human_t_lymphotropic_virus_2,human_t_lymphotropic_virus_4, Human"],"publication":["Not available"],"submitter_mail":["etp@mb.au.dk"],"submitter_affiliation":["Department of Molecular Biology and Genetics, Aarhus University"],"model":["http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023956","http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023957","http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023955","http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023953","http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023961","http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023962","http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023960","http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023958","http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023959"],"cell_type":["Not available"],"repository":["GPMDB"],"name_synonyms":["transforming growth factor beta, distinct, transforming growth factor beta ligand binding to type I receptor, big-h3, transforming growth factor beta receptor anchoring activity, Platelet Transforming Growth Factor, Beta-ig., TGF-beta, 68kDa, Bone-Derived Transforming Growth Factor, Factor, transforming growth factor beta ligand binding to type II receptor, Milk, TGFbeta, Bone Derived Transforming Growth Factor, Mutations, Milk Growth Factor, Milk Growth, activin, TGF-beta receptor binding, AI181842, inhibin, transforming growth factor beta receptor ligand, TGFbeta receptor binding, Growth Factor, AI747162"],"description_synonyms":["liquid chromatography tandem mass spectroscopy, atypia, Laser Capture, Microdissection, LCD1, Capture Microdissections, determination, Slf, C8H10N2S, Degradation, Somatomedin-C, A4, Substitution, FPH2, Ethylisothiamide, preT.ETP.Th, TYPE, LCDI, LC-MS-MS, DAGA4, Mutations, AI181842, Etionamid, Microdissections, LC-MSMS, lattice type 1, atypical, Type I, MAM, SCG3, 2-ethylpyridine-4-carbothioamide, AI747162, peptidolysis, study, Brothers, Biber-Haab-Dimmer dystrophy, LCMSMS, Ethionamide, ATP-dependent proteolysis, ethionamidum, Etioniamid, somatomedin-C, 68kDa, SF, Ethioniamide, Kitl, Substance, Protein Degradations, Amyloid, Mast cell growth factor, Protein Degradation, laser-assisted microdissection, IGF1, Mechano growth factor, Lattice Corneal Dystrophy Type I, Trecator, LC-MS-MS., Soluble KIT ligand, ETH, Sl, Capture Microdissection, ETP, LC-MS2, IGF-I, data, steel factor, Degradations, aberrant, big-h3, hematopoietic growth factor KL, LC-MS/MS, Ethyonomide, somatomedin, Ethinamide, Brother, defective, Protein Digestion, Amino Acid Substitutions, Digestions, sKITLG, LGMD2C, Corneal Dystrophy, Amyloid Fibrils, LC/MS/MS, Proteolyses, Digestion, mechano growth factor, Protein, chemical analysis, Laser Capture Microdissections, Classic lattice corneal dystrophy, LCM, Igf-1, Beta-ig, Amino Acid, SHEP7, Amyloid Substance, mast cell growth factor, DMDA1, etionamida, Sibling, Lattice Type I, Stem cell factor, Protein Digestions, Biber-Haab-Dimmer Dystrophy, Substitutions, STAT5, Sister, LMD, stem cell factor, KL-1, DMDA, Fibrils, liquid chromatography-tandem mass spectroscopy, MGF, c-Kit ligand, SCARMD2, Lattice corneal dystrophy type 1, Lattice Corneal Dystrophy, KITLG, liquid chromatography tandem mass spectrometry, Sisters, Corneal dystrophy, assay, SCF, Laser, variable, Etionamide, Proteomes"],"view_count":["23"],"citation_count":["0"],"full_dataset_link":["http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023957"],"search_count":["3"],"search_domains":["dbgap_ncbi~0","patentfamilies~0","rfam~0","merops~0","complex-portal~0","uniprot~0","wormbaseparasite~0","embl-covid19~0","reactome~0","emdb~0","wgs_masters~0","ebiweb_resources~0","opentargets_genetics~0","biomodels_all~0","ipd-mhc~0","ebiweb_teams~0","taxonomy~0","genome_assembly~0","sc-experiments~0","ebiweb_people~0","enzymeportal_enzymes~0","ipd-nhkir~0","cellosaurus~0","pdbe~0","chebi~0","patentproteins~0","interpro7~0","uniref~0","chembl~0","pdbekb~0","gpcrdb~0","hgnc~0","sc-genes~0","intact~0","rhea~0","ebiweb_training~0","alphafold~0","imgt-hla~0","patentnucleotides~0","ensemblroot~0","eva_studies~0","non-coding~0","europepmc~0","identifiers_registry~0","pdbechem~0","hpa-covid19~0","eva-variants-covid19~0","biosamples~0","gwas_catalog~0","biotools~0","tls_masters~0","mesh~0","coding~0","sra~0","opentargets~0","efo~0","embl-pathogen~0","project~0","pride~1","human_diseases~0","geo_datasets~0","embl~0","treefam~0","uniparc~0","ols~0","dgva~0","intenz~0","go~0","tsa_masters~0","biosamples-covid19~0","ebiweb_corporate~0","omim~0","lrg~0","earlycause-molecular-sequences~0","ipd-kir~0","empiar~0","rnacentral~0","orcid_data_claims~0","gpmdb~1","lineage-covid19~0","metagenomics~0","pfam~0","pride archive~1","varsite~0"],"reanalysis_count":["0"],"submitter_keywords":["Resource Reanalysis"],"citation_count_scaled":["0.0"],"reanalysis_count_scaled":["0.0"],"view_count_scaled":["0.007094386181369525"],"download_count_scaled":["0.0"],"normalized_connections":["1.0"],"additional_accession":[]},"is_claimable":false,"name":"Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene","description":"Data from ProteomeXchange, PXD ID: PXD000307. File: 120611_ETP_Sibling1_3.mgf. From ProteomeXchange: {{i}} In this study, we investigated whether the phenotypic difference observed between the two siblings with an atypical variant of lattice corneal dystrophy type 1 (LCD type 1) caused by a single A546D substitution and a A546D/P551Q double substitution in TGFBIp, can be ascribed to (i), a difference in plaque proteomes (ii), altered proteolysis of TGFBIp or (iii), is a consequence of the P551Q amino acid substitution. Amyloid deposits were isolated from two corneal specimens with atypical LCD type 1 due to a A546D/P551Q mutation in TGFBI using laser capture microdissection and a subsequent analysis by liquid chromatography-tandem mass spectrometry (LC-MS/MS) ... {{/i}}","dates":{"submission":"2013-12-13"},"accession":"GPM11210023957","cross_references":{"Pride":["PXD000307"],"pride":[],"Pride Archive":["PXD000307"]}}