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PubMed:19892780 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-81 Sentence denotes The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development.
TextSentencer_T2 82-240 Sentence denotes Mutations in the gene encoding FERM domain-containing 7 protein (FRMD7) are recognized as an important cause of X-linked idiopathic infantile nystagmus (IIN).
TextSentencer_T3 241-342 Sentence denotes However, the precise role of FRMD7 and its involvement in the pathogenesis of IIN are not understood.
TextSentencer_T4 343-424 Sentence denotes In the present study, we have explored the role of FRMD7 in neuronal development.
TextSentencer_T5 425-622 Sentence denotes Using in situ hybridization and immunohistochemistry, we reveal that FRMD7 expression is spatially and temporally regulated in both the human and mouse brain during embryonic and fetal development.
TextSentencer_T6 623-817 Sentence denotes Furthermore, we show that FRMD7 expression is up-regulated upon retinoic acid (RA)-induced differentiation of mouse neuroblastoma NEURO2A cells, suggesting FRMD7 may play a role in this process.
TextSentencer_T7 818-957 Sentence denotes Indeed, we demonstrate, for the first time, that knockdown of FRMD7 during neuronal differentiation results in altered neurite development.
TextSentencer_T8 958-1135 Sentence denotes Taken together, our data suggest that FRMD7 is involved in multiple aspects of neuronal development, and have direct importance to further understanding the pathogenesis of IIN.
T1 0-81 Sentence denotes The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development.
T2 82-240 Sentence denotes Mutations in the gene encoding FERM domain-containing 7 protein (FRMD7) are recognized as an important cause of X-linked idiopathic infantile nystagmus (IIN).
T3 241-342 Sentence denotes However, the precise role of FRMD7 and its involvement in the pathogenesis of IIN are not understood.
T4 343-424 Sentence denotes In the present study, we have explored the role of FRMD7 in neuronal development.
T5 425-622 Sentence denotes Using in situ hybridization and immunohistochemistry, we reveal that FRMD7 expression is spatially and temporally regulated in both the human and mouse brain during embryonic and fetal development.
T6 623-817 Sentence denotes Furthermore, we show that FRMD7 expression is up-regulated upon retinoic acid (RA)-induced differentiation of mouse neuroblastoma NEURO2A cells, suggesting FRMD7 may play a role in this process.
T7 818-957 Sentence denotes Indeed, we demonstrate, for the first time, that knockdown of FRMD7 during neuronal differentiation results in altered neurite development.
T8 958-1135 Sentence denotes Taken together, our data suggest that FRMD7 is involved in multiple aspects of neuronal development, and have direct importance to further understanding the pathogenesis of IIN.

Allie

Id Subject Object Predicate Lexical cue
SS1_19892780_1_0 113-145 expanded denotes FERM domain-containing 7 protein
SS2_19892780_1_0 147-152 abbr denotes FRMD7
SS1_19892780_1_1 203-233 expanded denotes idiopathic infantile nystagmus
SS2_19892780_1_1 235-238 abbr denotes IIN
SS1_19892780_5_0 687-700 expanded denotes retinoic acid
SS2_19892780_5_0 702-704 abbr denotes RA
AE1_19892780_1_0 SS1_19892780_1_0 SS2_19892780_1_0 abbreviatedTo FERM domain-containing 7 protein,FRMD7
AE1_19892780_1_1 SS1_19892780_1_1 SS2_19892780_1_1 abbreviatedTo idiopathic infantile nystagmus,IIN
AE1_19892780_5_0 SS1_19892780_5_0 SS2_19892780_5_0 abbreviatedTo retinoic acid,RA

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
19892780-0#25#30#gene90167 25-30 gene90167 denotes FRMD7
19892780-0#4#13#diseaseC0028738 4-13 diseaseC0028738 denotes nystagmus
19892780-5#26#31#gene90167 649-654 gene90167 denotes FRMD7
19892780-5#116#129#diseaseC0027819 739-752 diseaseC0027819 denotes neuroblastoma
19892780-5#116#129#diseaseC0700095 739-752 diseaseC0700095 denotes neuroblastoma
25#30#gene901674#13#diseaseC0028738 19892780-0#25#30#gene90167 19892780-0#4#13#diseaseC0028738 associated_with FRMD7,nystagmus
26#31#gene90167116#129#diseaseC0027819 19892780-5#26#31#gene90167 19892780-5#116#129#diseaseC0027819 associated_with FRMD7,neuroblastoma
26#31#gene90167116#129#diseaseC0700095 19892780-5#26#31#gene90167 19892780-5#116#129#diseaseC0700095 associated_with FRMD7,neuroblastoma

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 577-582 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T2 46-54 http://purl.obolibrary.org/obo/UBERON_2000602 denotes neuronal
PD-UBERON-AE-B_T3 403-411 http://purl.obolibrary.org/obo/UBERON_2000602 denotes neuronal
PD-UBERON-AE-B_T4 893-901 http://purl.obolibrary.org/obo/UBERON_2000602 denotes neuronal
PD-UBERON-AE-B_T5 1037-1045 http://purl.obolibrary.org/obo/UBERON_2000602 denotes neuronal

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T95 649-654 gene:90167 denotes FRMD7
T96 739-752 disease:C0027819 denotes neuroblastoma
R1 T95 T96 associated_with FRMD7,neuroblastoma
R2 T95 T96 associated_with FRMD7,neuroblastoma

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 577-582 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain