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PubMed:19622623 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-173 Sentence denotes A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.
TextSentencer_T2 174-182 Sentence denotes CONTEXT:
TextSentencer_T3 183-445 Sentence denotes Mutations in the GHRH receptor (GHRHR) have been detected in the familial type-IB isolated GH deficiency (IGHD-IB) inherited as an autosomal recessive disorder and characterized by a low but detectable serum GH level and good response to substitutive GH therapy.
TextSentencer_T4 446-456 Sentence denotes OBJECTIVE:
TextSentencer_T5 457-560 Sentence denotes The aim of our study was the identification of mutations in sporadic patients with a IGHD-IB phenotype.
TextSentencer_T6 561-582 Sentence denotes SUBJECTS AND METHODS:
TextSentencer_T7 583-730 Sentence denotes The GHRHR gene was systematically screened by DHPLC in 134 IGHD patients with no family history of the disorder or declared parental consanguinity.
TextSentencer_T8 731-739 Sentence denotes RESULTS:
TextSentencer_T9 740-938 Sentence denotes We identified a novel variation, Val10Gly, within the signal peptide at the heterozygous state in three patients and in one of 1084 controls (P = 0.004), suggesting that it might contribute to IGHD.
TextSentencer_T10 939-1168 Sentence denotes The functional analysis showed that the signal peptide is not cleaved from the mutant GHRHR, which in turn is not translocated to the cellular surface, demonstrating that 10Gly drastically affects the receptor correct processing.
TextSentencer_T11 1169-1382 Sentence denotes Because 10Gly was also present in normal-stature relatives of the patients as well as in a control, it is likely that it exerts its effects in the context of other genetic and environmental susceptibility factors.
TextSentencer_T12 1383-1394 Sentence denotes CONCLUSION:
TextSentencer_T13 1395-1744 Sentence denotes At difference from previous papers reporting GHRHR mutations in familial cases with a clear recessive mode of inheritance, our study was conducted on a large sample of sporadic patients and allowed to discover a novel mechanism of the disease caused by a recurrent dominant mutation in the GHRHR signal peptide associated with incomplete penetrance.
T1 0-173 Sentence denotes A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.
T2 174-182 Sentence denotes CONTEXT:
T3 183-445 Sentence denotes Mutations in the GHRH receptor (GHRHR) have been detected in the familial type-IB isolated GH deficiency (IGHD-IB) inherited as an autosomal recessive disorder and characterized by a low but detectable serum GH level and good response to substitutive GH therapy.
T4 446-456 Sentence denotes OBJECTIVE:
T5 457-560 Sentence denotes The aim of our study was the identification of mutations in sporadic patients with a IGHD-IB phenotype.
T6 561-582 Sentence denotes SUBJECTS AND METHODS:
T7 583-730 Sentence denotes The GHRHR gene was systematically screened by DHPLC in 134 IGHD patients with no family history of the disorder or declared parental consanguinity.
T8 731-739 Sentence denotes RESULTS:
T9 740-938 Sentence denotes We identified a novel variation, Val10Gly, within the signal peptide at the heterozygous state in three patients and in one of 1084 controls (P = 0.004), suggesting that it might contribute to IGHD.
T10 939-1168 Sentence denotes The functional analysis showed that the signal peptide is not cleaved from the mutant GHRHR, which in turn is not translocated to the cellular surface, demonstrating that 10Gly drastically affects the receptor correct processing.
T11 1169-1382 Sentence denotes Because 10Gly was also present in normal-stature relatives of the patients as well as in a control, it is likely that it exerts its effects in the context of other genetic and environmental susceptibility factors.
T12 1383-1394 Sentence denotes CONCLUSION:
T13 1395-1744 Sentence denotes At difference from previous papers reporting GHRHR mutations in familial cases with a clear recessive mode of inheritance, our study was conducted on a large sample of sporadic patients and allowed to discover a novel mechanism of the disease caused by a recurrent dominant mutation in the GHRHR signal peptide associated with incomplete penetrance.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 43-84 gene:2692 denotes growth hormone releasing hormone receptor
T1 138-172 disease:C0013338 denotes isolated growth hormone deficiency
T2 43-84 gene:2692 denotes growth hormone releasing hormone receptor
T3 138-172 disease:C3714796 denotes isolated growth hormone deficiency
T4 200-213 gene:2692 denotes GHRH receptor
T5 289-296 disease:C2748571 denotes IGHD-IB
T6 200-213 gene:2692 denotes GHRH receptor
T7 265-287 disease:C0013338 denotes isolated GH deficiency
T8 215-220 gene:2692 denotes GHRHR
T9 265-287 disease:C0013338 denotes isolated GH deficiency
T10 215-220 gene:2692 denotes GHRHR
T11 289-296 disease:C2748571 denotes IGHD-IB
R1 T0 T1 associated_with growth hormone releasing hormone receptor,isolated growth hormone deficiency
R2 T2 T3 associated_with growth hormone releasing hormone receptor,isolated growth hormone deficiency
R3 T4 T5 associated_with GHRH receptor,IGHD-IB
R4 T6 T7 associated_with GHRH receptor,isolated GH deficiency
R5 T8 T9 associated_with GHRHR,isolated GH deficiency
R6 T10 T11 associated_with GHRHR,IGHD-IB

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
19622623-0#43#84#gene2692 43-84 gene2692 denotes growth hormone releasing hormone receptor
19622623-0#138#172#diseaseC0013338 138-172 diseaseC0013338 denotes isolated growth hormone deficiency
19622623-0#138#172#diseaseC3714796 138-172 diseaseC3714796 denotes isolated growth hormone deficiency
19622623-1#17#30#gene2692 200-213 gene2692 denotes GHRH receptor
19622623-1#32#37#gene2692 215-220 gene2692 denotes GHRHR
19622623-1#131#159#diseaseC3899988 314-342 diseaseC3899988 denotes autosomal recessive disorder
19622623-1#106#113#diseaseC2748571 289-296 diseaseC2748571 denotes IGHD-IB
19622623-1#131#159#diseaseC3899988 314-342 diseaseC3899988 denotes autosomal recessive disorder
43#84#gene2692138#172#diseaseC0013338 19622623-0#43#84#gene2692 19622623-0#138#172#diseaseC0013338 associated_with growth hormone releasing hormone receptor,isolated growth hormone deficiency
43#84#gene2692138#172#diseaseC3714796 19622623-0#43#84#gene2692 19622623-0#138#172#diseaseC3714796 associated_with growth hormone releasing hormone receptor,isolated growth hormone deficiency
17#30#gene2692131#159#diseaseC3899988 19622623-1#17#30#gene2692 19622623-1#131#159#diseaseC3899988 associated_with GHRH receptor,autosomal recessive disorder
17#30#gene2692106#113#diseaseC2748571 19622623-1#17#30#gene2692 19622623-1#106#113#diseaseC2748571 associated_with GHRH receptor,IGHD-IB
17#30#gene2692131#159#diseaseC3899988 19622623-1#17#30#gene2692 19622623-1#131#159#diseaseC3899988 associated_with GHRH receptor,autosomal recessive disorder
32#37#gene2692131#159#diseaseC3899988 19622623-1#32#37#gene2692 19622623-1#131#159#diseaseC3899988 associated_with GHRHR,autosomal recessive disorder
32#37#gene2692106#113#diseaseC2748571 19622623-1#32#37#gene2692 19622623-1#106#113#diseaseC2748571 associated_with GHRHR,IGHD-IB
32#37#gene2692131#159#diseaseC3899988 19622623-1#32#37#gene2692 19622623-1#131#159#diseaseC3899988 associated_with GHRHR,autosomal recessive disorder

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T363 43-84 gene:2692 denotes growth hormone releasing hormone receptor
T364 138-172 disease:C0013338 denotes isolated growth hormone deficiency
R1 T363 T364 associated_with growth hormone releasing hormone receptor,isolated growth hormone deficiency
R2 T363 T364 associated_with growth hormone releasing hormone receptor,isolated growth hormone deficiency

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 385-390 http://purl.obolibrary.org/obo/UBERON_0001977 denotes serum

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 385-390 http://purl.obolibrary.org/obo/UBERON_0001977 denotes serum