Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency-Reference-Cited by-同舟云学术

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Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency

Published:2014-10-29 Issue:4 Volume:38 Page:407-412
ISSN:1720-8386
Container-title:Journal of Endocrinological Investigation
language:en
Short-container-title:J Endocrinol Invest

Author:

Storr H. L.,Prasad R.,Temple I. K.,Metherell L. A.,Savage M. O.,Walker J. M.

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

http://link.springer.com/content/pdf/10.1007/s40618-014-0195-1.pdf

Reference20 articles.

1. David A, Hwa V, Metherell LA et al (2011) Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity. Endocr Rev 32:472–497

2. Domené HM, Bengolea SV, Martinez AS et al (2004) Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. N Eng J Med 350:570–577

3. Domené HM, Hwa V, Jasper HG, Rosenfeld RG (2011) Acid-labile subunit (ALS) deficiency. Best Prac Res Clin Endocrinol Metab 25:101–113

4. Hess O, Khayat M, Hwa V et al (2013) A novel mutation in IGFALS, c.380T>C (p. L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1). Clin Endocrinol 79:838–844

5. Schreiner F, Schoenberger S, Koester B et al (2013) Novel acid-labile subunit (IGFALS) mutation p. T145K (c.434C>A) in a patient with ALS deficiency, normal stature and immunological dysfunction. Horm Res Paediatr 80:424–430

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1. Novel IGFALS mutations with predicted pathogenetic effects by the analysis of AlphaFold structure;Endocrine;2022-11-09

2. Components of IGF-axis in growth disorders: a systematic review and patent landscape report;Endocrine;2022-05-06

3. IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children;Journal of Genetic Engineering and Biotechnology;2021-07-28

4. Expression of acid-labile subunit (ALS) in developing and adult zebrafish and its role in dorso-ventral patterning during development;General and Comparative Endocrinology;2020-12

5. The role of acid-labile subunit (ALS) in the modulation of GH-IGF-I action;Molecular and Cellular Endocrinology;2020-12

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