Butyrate increases intracellular calcium levels and enhances growth hormone release from rat anterior pituitary cells via the G-protein-coupled receptors GPR41 and 43.

Autor: Maria Consolata Miletta, Vibor Petkovic, Andrée Eblé, Roland A Ammann, Christa E Flück, Primus-E Mullis

Publikováno v: PLoS ONE, Vol 9, Iss 10, p e107388 (2014)

Butyrate is a short-chain fatty acid (SCFA) closely related to the ketone body ß-hydroxybutyrate (BHB), which is considered to be the major energy substrate during prolonged exercise or starvation. During fasting, serum growth hormone (GH) rises con

Externí odkaz: https://doaj.org/article/7cca22c11a0b45cb886a2dbbc16ec2a8

Rescue of Isolated GH Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing

Autor: Andrée Eblé, Maria Consolata Miletta, Primus-Eugen Mullis, Christa E. Flück, Vibor Petkovic

Isolated GH deficiency (IGHD) type II, the autosomal dominant form of GHD, is mainly caused by mutations that affect splicing of GH-1. When misspliced RNA is translated, it produces a toxic 17.5-kDa GH isoform that reduces the accumulation and secret

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0377b23955a99cc030817a7462d612a

Growth Hormone (GH)-Releasing Hormone Increases the Expression of the Dominant-Negative GH Isoform in Cases of Isolated GH Deficiency due to GH Splice-Site Mutations

Autor: Vibor Petkovic, Andrée Eblé, Ilain C. Robinson, Primus E. Mullis, Christa E. Flück, Didier Lochmatter, Michela Godi

Publikováno v: Endocrinology

An autosomal dominant form of isolated GH deficiency (IGHD II) can result from heterozygous splice site mutations that weaken recognition of exon 3 leading to aberrant splicing of GH-1 transcripts and production of a dominant-negative 17.5-kDa GH iso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d2c30557ea7755c797cab5f9f09f23c
https://doi.org/10.1210/en.2009-1280

Influence of Growth Hormone (GH) Receptor Deletion of Exon 3 and Full-Length Isoforms on GH Response and Final Height in Patients with Severe GH Deficiency

Autor: Vibor Petkovic, Didier Lochmatter, Andrée Eblé, Christa E. Flück, Barbara Räz, Marco Janner, Peter C. Hindmarsh, Primus E. Mullis, Mehul T. Dattani

Publikováno v: Räz, Barbara; Janner, Marco; Petkovic, Vibor; Lochmatter, Didier; Eblé, Andrée; Dattani, Mehul T.; Hindmarsh, Peter C.; Flück, Christa E.; Mullis, Primus E. (2008). Influence of growth hormone (GH) receptor deletion of exon 3 and full-length isoforms on GH response and final height in patients with severe GH deficiency. Journal of clinical endocrinology and metabolism, 93(3), pp. 974-980. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2007-1382

CONTEXT: A polymorphism of the GH receptor (GHR) gene resulting in genomic deletion of exon 3 (GHR-d3) has been associated with responsiveness to GH therapy. However, the data reported so far do vary according to the underlying condition, replacement

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39e0a7f0ec53e49d0296e4b6b6ce947b
https://doi.org/10.1210/jc.2007-1382

IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion

Autor: Maria Consolata Miletta, Shaheena Parween, Andrée Eblé, Primus-Eugen Mullis, Amit V. Pandey, Christa E. Flück, Marco Janner

Publikováno v: The Journal of clinical endocrinology and metabolism. 100(12)

The autosomal dominant form of GH deficiency (IGHD II) is characterized by markedly reduced GH secretion combined with low concentrations of IGF-1 leading to short stature.Structure-function analysis of a missense mutation in the GH-1 gene converting

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::909e9152085a69d7bbff5f6fe1f655f6
https://pubmed.ncbi.nlm.nih.gov/26485222