PubMed:23528852 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":81},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":82,"end":240},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":241,"end":366},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":367,"end":524},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":525,"end":720},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":721,"end":828},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":81},"obj":"Sentence"},{"id":"T2","span":{"begin":82,"end":240},"obj":"Sentence"},{"id":"T3","span":{"begin":241,"end":366},"obj":"Sentence"},{"id":"T4","span":{"begin":367,"end":524},"obj":"Sentence"},{"id":"T5","span":{"begin":525,"end":720},"obj":"Sentence"},{"id":"T6","span":{"begin":721,"end":828},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.\nGene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS). The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes. Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene. The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease. Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":10,"end":16},"obj":"gene:7846"},{"id":"T1","span":{"begin":42,"end":55},"obj":"disease:C0266463"},{"id":"T2","span":{"begin":10,"end":16},"obj":"gene:7846"},{"id":"T3","span":{"begin":60,"end":80},"obj":"disease:C0019569"},{"id":"T4","span":{"begin":10,"end":16},"obj":"gene:7846"},{"id":"T5","span":{"begin":60,"end":80},"obj":"disease:C2931876"},{"id":"T6","span":{"begin":99,"end":115},"obj":"gene:7846"},{"id":"T7","span":{"begin":220,"end":233},"obj":"disease:C0266463"},{"id":"T8","span":{"begin":117,"end":123},"obj":"gene:7846"},{"id":"T9","span":{"begin":235,"end":238},"obj":"disease:C0266463"},{"id":"T10","span":{"begin":117,"end":123},"obj":"gene:7846"},{"id":"T11","span":{"begin":220,"end":233},"obj":"disease:C0266463"},{"id":"T12","span":{"begin":512,"end":518},"obj":"gene:7846"},{"id":"T13","span":{"begin":453,"end":471},"obj":"disease:C0014544"},{"id":"T14","span":{"begin":685,"end":691},"obj":"gene:7846"},{"id":"T15","span":{"begin":547,"end":567},"obj":"disease:C0019569"},{"id":"T16","span":{"begin":685,"end":691},"obj":"gene:7846"},{"id":"T17","span":{"begin":547,"end":567},"obj":"disease:C2931876"}],"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"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"},{"id":"R7","pred":"associated_with","subj":"T12","obj":"T13"},{"id":"R8","pred":"associated_with","subj":"T14","obj":"T15"},{"id":"R9","pred":"associated_with","subj":"T16","obj":"T17"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.\nGene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS). The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes. Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene. The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease. Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation."}

{"project":"Allie","denotations":[{"id":"SS1_23528852_1_0","span":{"begin":99,"end":115},"obj":"expanded"},{"id":"SS2_23528852_1_0","span":{"begin":117,"end":123},"obj":"abbr"},{"id":"SS1_23528852_1_1","span":{"begin":220,"end":233},"obj":"expanded"},{"id":"SS2_23528852_1_1","span":{"begin":235,"end":238},"obj":"abbr"},{"id":"SS1_23528852_4_0","span":{"begin":576,"end":632},"obj":"expanded"},{"id":"SS2_23528852_4_0","span":{"begin":634,"end":639},"obj":"abbr"}],"relations":[{"id":"AE1_23528852_1_0","pred":"abbreviatedTo","subj":"SS1_23528852_1_0","obj":"SS2_23528852_1_0"},{"id":"AE1_23528852_1_1","pred":"abbreviatedTo","subj":"SS1_23528852_1_1","obj":"SS2_23528852_1_1"},{"id":"AE1_23528852_4_0","pred":"abbreviatedTo","subj":"SS1_23528852_4_0","obj":"SS2_23528852_4_0"}],"text":"A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.\nGene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS). The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes. Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene. The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease. Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":220,"end":233},"obj":"HP_0001339"},{"id":"T2","span":{"begin":408,"end":421},"obj":"HP_0001339"},{"id":"T3","span":{"begin":423,"end":435},"obj":"HP_0000252"},{"id":"T4","span":{"begin":463,"end":471},"obj":"HP_0001250"},{"id":"T5","span":{"begin":547,"end":567},"obj":"HP_0002251"}],"text":"A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.\nGene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS). The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes. Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene. The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease. Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"23528852-0#10#16#gene7846","span":{"begin":290,"end":296},"obj":"gene7846"},{"id":"23528852-0#42#55#diseaseC0266463","span":{"begin":408,"end":421},"obj":"diseaseC0266463"},{"id":"23528852-3#145#151#gene7846","span":{"begin":512,"end":518},"obj":"gene7846"},{"id":"23528852-3#86#104#diseaseC0014544","span":{"begin":453,"end":471},"obj":"diseaseC0014544"}],"relations":[{"id":"10#16#gene784642#55#diseaseC0266463","pred":"associated_with","subj":"23528852-0#10#16#gene7846","obj":"23528852-0#42#55#diseaseC0266463"},{"id":"145#151#gene784686#104#diseaseC0014544","pred":"associated_with","subj":"23528852-3#145#151#gene7846","obj":"23528852-3#86#104#diseaseC0014544"}],"text":"A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.\nGene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS). The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes. Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene. The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease. Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation."}

{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":42,"end":55},"obj":"HP:0001339"},{"id":"AB1","span":{"begin":220,"end":233},"obj":"HP:0001339"},{"id":"AB2","span":{"begin":408,"end":421},"obj":"HP:0001339"},{"id":"AB3","span":{"begin":423,"end":435},"obj":"HP:0000252"},{"id":"AB4","span":{"begin":463,"end":471},"obj":"HP:0001250"}],"text":"A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.\nGene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS). The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes. Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene. The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease. Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":60,"end":80},"obj":"ORDO:388"},{"id":"AB1","span":{"begin":547,"end":567},"obj":"ORDO:388"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.\nGene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS). The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes. Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene. The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease. Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation."}