Failure to Thrive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the pregnancy-associated plasma protein A2 (PAPP-A2) gene have recently been shown to cause postnatal growth failure in two prepubertal patients from a non-consanguineous Spanish family due to the resulting decrease in IGF1 bioavailability.
|
30119035 |
2019 |
Failure to Thrive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
IGF deficiency caused by a homozygous loss-of-function of IGF1 is a very rare cause of growth failure.
|
31614333 |
2019 |
Failure to Thrive
|
0.200 |
Biomarker
|
disease |
BEFREE |
A proposal for the interpretation of the serum IGF-I concentration as part of laboratory screening in children with growth failure
|
31842524 |
2019 |
Failure to Thrive
|
0.200 |
Biomarker
|
disease |
BEFREE |
We describe a 13-month old girl with severe growth failure who showed a low GH response to two GH provocation tests and a modest increase of insulin-like growth factor-1 (IGF-1) to an IGF-1 generation test.
|
29537382 |
2018 |
Failure to Thrive
|
0.200 |
Biomarker
|
disease |
BEFREE |
<b>Background:</b> Imatinib, a tyrosine kinase inhibitor, causes growth failure in children with chronic myeloid leukemia probably by targeting the growth hormone (GH)/insulin like growth factor-1 (IGF-1) axis.
|
30210447 |
2018 |
Failure to Thrive
|
0.200 |
Biomarker
|
disease |
BEFREE |
Background Recombinant human insulin-like growth factor 1 (rhIGF-I) has been approved as an orphan drug for the treatment of growth failure in children and adolescents with severe primary IGF-I deficiency (SPIGFD) with little pharmacokinetic data available.
|
29995632 |
2018 |
Failure to Thrive
|
0.200 |
Biomarker
|
disease |
BEFREE |
IGF-1 insensitivity results in pre- and post-natal growth failure with normal/high IGF-1 levels.
|
28870985 |
2017 |
Failure to Thrive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations in PAPP-A2 result in growth failure with elevated total but low free IGF-1.
|
29029190 |
2017 |
Failure to Thrive
|
0.200 |
Biomarker
|
disease |
BEFREE |
This review focuses on the most recent discovery: mutations in the metalloproteinase pregnancy-associated plasma protein-A2 (PAPP-A2), one of the proteases involved in liberating IGF-1 from the complexes in which it circulates, in patients with delayed growth failure.
|
28801361 |
2017 |
Failure to Thrive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PAPP-A2 gene have recently been shown to cause postnatal growth failure in humans, with specific skeletal features, due to the resulting decrease in IGF-1 bioavailability.
|
27648969 |
2016 |
Failure to Thrive
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in multiple genes of the growth hormone/IGF-I axis have been identified in syndromes marked by growth failure.
|
26902202 |
2016 |
Failure to Thrive
|
0.200 |
Biomarker
|
disease |
BEFREE |
By contrast, IGF1 insensitivity results in pre- and postnatal growth failure associated with relatively high IGF1 levels.
|
25411237 |
2015 |
Failure to Thrive
|
0.200 |
Biomarker
|
disease |
BEFREE |
The results of the in-vitro study do not support the hypothesis that IGF-I/IGF-II resistance is a major pathogenetic mechanism responsible for the growth failure in the subgroup of SRS children with IGF2/H19 hypomethylation.
|
25066218 |
2014 |
Failure to Thrive
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
The phenotype includes reduced but not absent serum GH, with abnormal response to a variety of stimuli, and low serum insulin-like growth factor-1 levels, resulting in proportionate growth failure which becomes evident in the first year of life.
|
23392099 |
2013 |
Failure to Thrive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
IGF1R mutations cause IGF-1 resistance resulting in intrauterine and postnatal growth failure.
|
24296753 |
2013 |
Failure to Thrive
|
0.200 |
Biomarker
|
disease |
BEFREE |
Two patients with a complete absence of biologically active IGF-1 showed severe pre- and postnatal growth, extreme microcephaly, sensorineural deafness and failure to thrive.
|
23428682 |
2013 |
Failure to Thrive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.
|
23045302 |
2013 |
Failure to Thrive
|
0.200 |
Biomarker
|
disease |
BEFREE |
Intrauterine and postnatal growth failure with normal GH/IGF1 axis and insulin-resistant diabetes in a consanguineous kinship.
|
22170795 |
2012 |
Failure to Thrive
|
0.200 |
Biomarker
|
disease |
BEFREE |
Genetic abnormalities causing growth failure that is less severe than the extreme phenotype are emphasized, together with an analysis of height and serum IGF-I across the spectrum of different types of GHR defects.
|
21525302 |
2011 |
Failure to Thrive
|
0.200 |
Biomarker
|
disease |
BEFREE |
The spectrum of associated anomalies in this newly recognised phenotype complex consists of growth failure, typical facial anomalies with additional (previously unreported) nervous system abnormalities (e.g. sensorineural deafness) and somatomedin C deficiency.
|
19838731 |
2010 |
Failure to Thrive
|
0.200 |
Biomarker
|
disease |
BEFREE |
Defects in the growth hormone (GH)-insulin-like growth factor (IGF)I axis may cause GH resistance characterized by IGFI deficiency and growth failure.
|
20679995 |
2010 |
Failure to Thrive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that this patient's IkappaBalpha mutation caused GH and IGF-l resistance which, in turn, contributed to his growth failure.
|
20080849 |
2010 |
Failure to Thrive
|
0.200 |
Biomarker
|
disease |
BEFREE |
During follow-up he manifested complications from the hydrocephalus and NDI including global developmental delay and growth failure with low IGF-1 and hypothyroidism.
|
18553546 |
2008 |
Failure to Thrive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A small number of children (to date 10) with modest growth failure and in the majority delayed puberty, a phenotype similar to that of CDGP, have been reported to carry mutations in the IGF acid labile subunit (IGFALS) gene which encodes the ALS, a part of the ternary complex carrying IGF-I in the circulation.
|
18362293 |
2008 |
Failure to Thrive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Finally, we clearly demonstrate that GH-R77C is not invariably associated with short stature, but that great care needs to be taken in ascribing growth failure to various heterozygous mutations affecting the GH-IGF axis and that careful functional studies are mandatory.
|
17785701 |
2007 |