GPMDB00233OtherPoulsen ET, et al.InstrumentNot AvailableNot availableHuman_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, HumanNot availableetp@mb.au.dkDepartment of Molecular Biology and Genetics, Aarhus Universityhttp://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023956http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023957http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023955http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023953http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023961http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023962http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023960http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023958http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM11210023959Not availableGPMDBtransforming 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, AI747162liquid 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, Proteomes230http://gpmdb.thegpm.org/~/dblist_gpmnum/gpmnum=GPM112100239573dbgap_ncbi~0patentfamilies~0rfam~0merops~0complex-portal~0uniprot~0wormbaseparasite~0embl-covid19~0reactome~0emdb~0wgs_masters~0ebiweb_resources~0opentargets_genetics~0biomodels_all~0ipd-mhc~0ebiweb_teams~0taxonomy~0genome_assembly~0sc-experiments~0ebiweb_people~0enzymeportal_enzymes~0ipd-nhkir~0cellosaurus~0pdbe~0chebi~0patentproteins~0interpro7~0uniref~0chembl~0pdbekb~0gpcrdb~0hgnc~0sc-genes~0intact~0rhea~0ebiweb_training~0alphafold~0imgt-hla~0patentnucleotides~0ensemblroot~0eva_studies~0non-coding~0europepmc~0identifiers_registry~0pdbechem~0hpa-covid19~0eva-variants-covid19~0biosamples~0gwas_catalog~0biotools~0tls_masters~0mesh~0coding~0sra~0opentargets~0efo~0embl-pathogen~0project~0pride~1human_diseases~0geo_datasets~0embl~0treefam~0uniparc~0ols~0dgva~0intenz~0go~0tsa_masters~0biosamples-covid19~0ebiweb_corporate~0omim~0lrg~0earlycause-molecular-sequences~0ipd-kir~0empiar~0rnacentral~0orcid_data_claims~0gpmdb~1lineage-covid19~0metagenomics~0pfam~0pride archive~1varsite~00Resource Reanalysis0.00.00.0070943861813695250.01.0falseComparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) geneData 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}}2013-12-13GPM11210023957PXD000307PXD000307