A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent

Autor: Poyrazoğlu, Şükran, Hwa, Vivian, Baş, Firdevs, Dauber, Andrew, Rosenfeld, Ron, Darendeliler, Feyza

Publikováno v: JCRPE, Vol 11, Iss 4, Pp 432-438 (2019)
Journal of Clinical Research in Pediatric Endocrinology

Acid-labile subunit (ALS) forms ternary complexes with insulin like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) and is essential for normal circulating IGF-1 levels. The IGFALS gene encodes the ALS and mutations in IGFALS cause ALS de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::874c715814d08036d641004d2e75decc
https://doaj.org/article/9edcc96ebcef4d3a88fc2a94832b37f6

Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation

Autor: Namshin Kim, Byung Yoon Choi, Soon Ae Kim, Jong-Eun Park, Kyung Hwan Kim, Seong Hwan Rho, Hee Jeong Yoo, In Hyang Kim, Kiyoung Lee

Publikováno v: International Journal of Molecular Sciences, Vol 16, Iss 3, Pp 5697-5713 (2015)
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES(16): 3
International Journal of Molecular Sciences
Volume 16
Issue 3
Pages 5697-5713

Rubinstein-Taybi syndrome (RSTS) is a rare condition with a prevalence of 1 in 125,000–720,000 births and characterized by clinical features that include facial, dental, and limb dysmorphology and growth retardation. Most cases of RSTS occur sporad

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b7050c8180ec233255b3b105e59a57f
http://www.mdpi.com/1422-0067/16/3/5697

Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System

Autor: Liliana Karabatas, Viviana Pipman, Horacio M. Domené, Eva M. Lescano, María Gabriela Ropelato, María C. Guida, Hector Jasper, Paula Scaglia, María Gabriela Ballerini, Rodolfo Rey, Ana Keselman, Juan J. Heinrich, Sonia Bengolea, Alicia Martínez, Miguel Blanco

Publikováno v: Hormone Research in Paediatrics. 80:413-423

Background: In acid-labile subunit (ALS)-deficient families, heterozygous carriers of IGFALS gene mutations are frequently shorter than their wild-type relatives, suggesting that IGFALS haploinsufficiency could result in short stature. We have charac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8f640949c977fd2d39c86063b0982f3d
https://doi.org/10.1159/000355412

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins

Autor: Harvey K. Chiu, Olga V. Fofanova-Gambetti, Vivian Hwa, Susan Kirsch, Christina Jacobsen, Laurie E. Cohen, Wolfgang Högler, Catherine Pihoker, Ron G. Rosenfeld, Michael A. Derr

Publikováno v: Hormone research. 71(2)

Background/Aims: To date, four mutations in the IGFALS gene have been reported. We now describe two children of different ethnic background with total acid-labile subunit (ALS) and severe circulating IGF-I/IGFBP-3 deficiencies resulting from three no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffb54a65fd33af4efc9dae293166fd51
https://pubmed.ncbi.nlm.nih.gov/19129715