PubMed:10218700 JSONTXT

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"10218700-0#12#22#geners121909212","span":{"begin":12,"end":22},"obj":"geners121909212"},{"id":"10218700-0#0#7#diseaseC0002726","span":{"begin":0,"end":7},"obj":"diseaseC0002726"},{"id":"10218700-0#70#105#diseaseC1837974","span":{"begin":70,"end":105},"obj":"diseaseC1837974"}],"relations":[{"id":"12#22#geners1219092120#7#diseaseC0002726","pred":"associated_with","subj":"10218700-0#12#22#geners121909212","obj":"10218700-0#0#7#diseaseC0002726"},{"id":"12#22#geners12190921270#105#diseaseC1837974","pred":"associated_with","subj":"10218700-0#12#22#geners121909212","obj":"10218700-0#70#105#diseaseC1837974"}],"text":"Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA.\nPURPOSE: To assess the relative distribution in the cornea of amyloid and (beta)ig-h3 gene product in lattice corneal dystrophy type IIIA (LCD-IIIA).\nMETHODS: Serial sections from the cornea of a patient with LCD-IIIA were subjected to either Congo red staining or immunohistochemistry employing an antibody to (beta)ig-h3. Also, genomic DNA was isolated from peripheral blood and used as a template for polymerase chain reaction to amplify all exons of (beta)ig-h3.\nRESULTS: Exon 11 of (beta)ig-h3 was mutated (Pro501Thr). Subepithelial and intrastromal congophilic deposits exhibited a birefringency characteristic of amyloid. These regions of the tissue were also highly immunoreactive with the antibody to the (beta)ig-h3 gene product.\nCONCLUSION: Amyloid and Pro501Thr-mutated (beta)ig-h3 protein accumulate and colocalize in LCD-IIIA."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10218700-0#32#42#gene7045","span":{"begin":32,"end":42},"obj":"gene7045"},{"id":"10218700-0#0#7#diseaseC0002726","span":{"begin":0,"end":7},"obj":"diseaseC0002726"},{"id":"10218700-0#70#105#diseaseC1837974","span":{"begin":70,"end":105},"obj":"diseaseC1837974"}],"relations":[{"id":"32#42#gene70450#7#diseaseC0002726","pred":"associated_with","subj":"10218700-0#32#42#gene7045","obj":"10218700-0#0#7#diseaseC0002726"},{"id":"32#42#gene704570#105#diseaseC1837974","pred":"associated_with","subj":"10218700-0#32#42#gene7045","obj":"10218700-0#70#105#diseaseC1837974"}],"text":"Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA.\nPURPOSE: To assess the relative distribution in the cornea of amyloid and (beta)ig-h3 gene product in lattice corneal dystrophy type IIIA (LCD-IIIA).\nMETHODS: Serial sections from the cornea of a patient with LCD-IIIA were subjected to either Congo red staining or immunohistochemistry employing an antibody to (beta)ig-h3. Also, genomic DNA was isolated from peripheral blood and used as a template for polymerase chain reaction to amplify all exons of (beta)ig-h3.\nRESULTS: Exon 11 of (beta)ig-h3 was mutated (Pro501Thr). Subepithelial and intrastromal congophilic deposits exhibited a birefringency characteristic of amyloid. These regions of the tissue were also highly immunoreactive with the antibody to the (beta)ig-h3 gene product.\nCONCLUSION: Amyloid and Pro501Thr-mutated (beta)ig-h3 protein accumulate and colocalize in LCD-IIIA."}

{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":70,"end":95},"obj":"HP:0001149"},{"id":"AB1","span":{"begin":209,"end":234},"obj":"HP:0001149"}],"text":"Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA.\nPURPOSE: To assess the relative distribution in the cornea of amyloid and (beta)ig-h3 gene product in lattice corneal dystrophy type IIIA (LCD-IIIA).\nMETHODS: Serial sections from the cornea of a patient with LCD-IIIA were subjected to either Congo red staining or immunohistochemistry employing an antibody to (beta)ig-h3. Also, genomic DNA was isolated from peripheral blood and used as a template for polymerase chain reaction to amplify all exons of (beta)ig-h3.\nRESULTS: Exon 11 of (beta)ig-h3 was mutated (Pro501Thr). Subepithelial and intrastromal congophilic deposits exhibited a birefringency characteristic of amyloid. These regions of the tissue were also highly immunoreactive with the antibody to the (beta)ig-h3 gene product.\nCONCLUSION: Amyloid and Pro501Thr-mutated (beta)ig-h3 protein accumulate and colocalize in LCD-IIIA."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":182,"end":192},"obj":"gene:7045"},{"id":"T1","span":{"begin":246,"end":254},"obj":"disease:C1837974"},{"id":"T2","span":{"begin":182,"end":192},"obj":"gene:7045"},{"id":"T3","span":{"begin":209,"end":244},"obj":"disease:C1837974"},{"id":"T4","span":{"begin":419,"end":429},"obj":"gene:7045"},{"id":"T5","span":{"begin":316,"end":324},"obj":"disease:C1837974"},{"id":"T6","span":{"begin":890,"end":900},"obj":"gene:7045"},{"id":"T7","span":{"begin":938,"end":946},"obj":"disease:C1837974"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA.\nPURPOSE: To assess the relative distribution in the cornea of amyloid and (beta)ig-h3 gene product in lattice corneal dystrophy type IIIA (LCD-IIIA).\nMETHODS: Serial sections from the cornea of a patient with LCD-IIIA were subjected to either Congo red staining or immunohistochemistry employing an antibody to (beta)ig-h3. Also, genomic DNA was isolated from peripheral blood and used as a template for polymerase chain reaction to amplify all exons of (beta)ig-h3.\nRESULTS: Exon 11 of (beta)ig-h3 was mutated (Pro501Thr). Subepithelial and intrastromal congophilic deposits exhibited a birefringency characteristic of amyloid. These regions of the tissue were also highly immunoreactive with the antibody to the (beta)ig-h3 gene product.\nCONCLUSION: Amyloid and Pro501Thr-mutated (beta)ig-h3 protein accumulate and colocalize in LCD-IIIA."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":169,"end":176},"obj":"HP_0011034"},{"id":"T2","span":{"begin":209,"end":234},"obj":"HP_0001149"},{"id":"T3","span":{"begin":217,"end":234},"obj":"HP_0001131"}],"text":"Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA.\nPURPOSE: To assess the relative distribution in the cornea of amyloid and (beta)ig-h3 gene product in lattice corneal dystrophy type IIIA (LCD-IIIA).\nMETHODS: Serial sections from the cornea of a patient with LCD-IIIA were subjected to either Congo red staining or immunohistochemistry employing an antibody to (beta)ig-h3. Also, genomic DNA was isolated from peripheral blood and used as a template for polymerase chain reaction to amplify all exons of (beta)ig-h3.\nRESULTS: Exon 11 of (beta)ig-h3 was mutated (Pro501Thr). Subepithelial and intrastromal congophilic deposits exhibited a birefringency characteristic of amyloid. These regions of the tissue were also highly immunoreactive with the antibody to the (beta)ig-h3 gene product.\nCONCLUSION: Amyloid and Pro501Thr-mutated (beta)ig-h3 protein accumulate and colocalize in LCD-IIIA."}