> top > projects > sentences > docs > PubMed:19622623 > annotations
sentences Home  

PubMed:19622623 JSONTXT 7 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

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.
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:
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.
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:
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.
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:
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.
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:
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.
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.
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.
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:
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.
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.