The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoprotein.

Autor: Ying Wang, Emilie Brûlé, Tanya Silander, Beata Bak, Sjoerd D Joustra, Daniel J Bernard

Publikováno v: PLoS ONE, Vol 12, Iss 7, p e0180731 (2017)

Mutations in the immunoglobulin superfamily, member 1 gene (IGSF1/Igsf1) cause an X-linked form of central hypothyroidism. The canonical form of IGSF1 is a transmembrane glycoprotein with 12 immunoglobulin (Ig) loops. The protein is co-translationall

Externí odkaz: https://doaj.org/article/18a78b9d89e940c585bb4965078faa15

IGSF1 deficiency results in human and murine somatotrope neurosecretory hyperfunction

Autor: Graham R. Williams, Frederik J. Steyn, Robert P Kosilek, Pierre Fontanaud, Marc-Olivier Turgeon, J. H. Duncan Bassett, Herman M. Kroon, Mark Gurnell, Daniel J. Bernard, Nadia Schoenmakers, John G. Logan, Emilie Brûlé, Chirine Toufaily, Xiang Zhou, Wilma Oostdijk, Jan M. Wit, Beata Bak, Ferdinand Roelfsema, Alberto M. Pereira, A S Paul van Trotsenburg, Harald Jörn Schneider, Paul Le Tissier, Sjoerd D. Joustra, Natalie C. Butterfield, Olympia Koulouri, Nienke R. Biermasz

Publikováno v: Journal of Clinical Endocrinology and Metabolism, 105(3), E70-E84. ENDOCRINE SOC
The Journal of Clinical Endocrinology and Metabolism
Journal of clinical endocrinology and metabolism, 105(3):dgz093. The Endocrine Society
Joustra, S D, Roelfsema, F, van Trotsenburg, A S P, Schneider, H J, Kosilek, R P, Kroon, H M, Logan, J G, Butterfield, N C, Zhou, X, Toufaily, C, Bak, B, Turgeon, M-O, Brûlé, E, Steyn, F J, Gurnell, M, Koulouri, O, Le Tissier, P, Fontanaud, P, Duncan Bassett, J H, Williams, G R, Oostdijk, W, Wit, J M, Pereira, A M, Biermasz, N R, Bernard, D J & Schoenmakers, N 2020, ' IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction ', Journal of Clinical Endocrinology & Metabolism, vol. 105, no. 3 . https://doi.org/10.1210/clinem/dgz093

Context The X-linked immunoglobulin superfamily, member 1 (IGSF1), gene is highly expressed in the hypothalamus and in pituitary cells of the POU1F1 lineage. Human loss-of-function mutations in IGSF1 cause central hypothyroidism, hypoprolactinemia, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::008e5ed5913c3f5fb702fd56c4a83130
http://hdl.handle.net/1887/3181360

The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoprotein

Autor: Beata Bak, Emilie Brûlé, Tanya L. Silander, Daniel J. Bernard, Ying Wang, Sjoerd D. Joustra

Publikováno v: PLoS ONE
PLoS ONE, Vol 12, Iss 7, p e0180731 (2017)
PLoS ONE, 12(7)

Mutations in the immunoglobulin superfamily, member 1 gene (IGSF1/Igsf1) cause an X-linked form of central hypothyroidism. The canonical form of IGSF1 is a transmembrane glycoprotein with 12 immunoglobulin (Ig) loops. The protein is co-translationall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c30cad7831ad9e3c3a1c9646dff0cde
https://pubmed.ncbi.nlm.nih.gov/28686733

The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients

Autor: Irene Campi, Marcel M.A.M. Mannens, M.H. Breuning, Mehul T. Dattani, Marco Bonomi, Giorgio Radetti, W. Oostdijk, Daniel J. Bernard, Krishna Chatterjee, Nadia Schoenmakers, Joseph A M J L Janssen, H. Zhu, Paolo Beck-Peccoz, Sjoerd D. Joustra, Maria Paola Lombardi, J.M. Wit, Erik Endert, Raoul C.M. Hennekam, Nienke R. Biermasz, Natasha M. Appelman-Dijkstra, Yu Sun, Aimee J. Varewijck, Alberto M. Pereira, Charlotte A Heinen, A S P van Trotsenburg, Eleonora P M Corssmit, Luca Persani, Timothy M. E. Davis, Beata Bak

Publikováno v: Journal of clinical endocrinology and metabolism, 98(12), 4942-4952. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 98(12), 4942-4952. Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 98(12), 4942-4952

Context: Ig superfamily member1 (IGSF1) deficiency was recently discovered as a novel X-linked cause of central hypothyroidism (CeH) and macro-orchidism. However, clinical and biochemical data regarding growth, puberty, and metabolic outcome, as well

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17eb6e22e0801827994fba2a88dfa2d8
https://pure.eur.nl/en/publications/51ed2254-11a0-4202-8c57-63351e3c7191

Activins regulate 17β-hydroxysteroid dehydrogenase type I transcription in murine gonadotrope cells

Autor: Matthew P. Hardy, Daniel J. Bernard, Laura Carpio, Jinjing L Kipp, Ren-Shan Ge, Ying Wang, Beata Bak, Pankaj Lamba, Kelly E. Mayo

Publikováno v: Journal of Endocrinology. 201:89-104

Activins are pleiotropic members of the TGFβ superfamily and were initially characterized based on their abilities to stimulate FSH synthesis and secretion by gonadotrope cells of the anterior pituitary gland. Here, we identified the gene encoding t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12154b3cc5c942166a58bb021bb627d2
https://doi.org/10.1677/joe-08-0460