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Molecular and Cellular Biology Volume 23, 2003 - Issue 14
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Mammalian Genetic Models with Minimal or Complex Phenotypes

Normal Reproductive Function in InhBP/p120-Deficient Mice

Daniel J. Bernard1 Department of Neurobiology and Physiology, Northwestern University, Evanston, Illinois60201;2 Center for Biomedical Research, Population Council and Rockefeller University, New York, New York10021Correspondence[email protected]
,
Kathleen H. Burns3 Departments of Pathology;4 Molecular and Human Genetics
,
Bisong Haupt3 Departments of Pathology
,
Martin M. Matzuk3 Departments of Pathology;4 Molecular and Human Genetics;5 Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas77030
&
Teresa K. Woodruff1 Department of Neurobiology and Physiology, Northwestern University, Evanston, Illinois60201;6 Department of Medicine, Northwestern University School of Medicine, Chicago, Illinois60657
Pages 4882-4891 | Received 24 Feb 2003, Accepted 30 Apr 2003, Published online: 27 Mar 2023

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Sjoerd D. Joustra, A. S. Paul van Trotsenburg, Yu Sun, Monique Losekoot, Daniel J. Bernard, Nienke R. Biermasz, Wilma Oostdijk & Jan M. Wit. (2013) IGSF1 deficiency syndrome. Rare Diseases 1:1.
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Articles from other publishers (28)

Emilie Brûlé, Tanya L Silander, Ying Wang, Xiang Zhou, Beata Bak, Stefan Groeneweg & Daniel J Bernard. (2022) IGSF1 Deficiency Leads to Reduced TSH Production Independent of Alterations in Thyroid Hormone Action in Male Mice. Endocrinology 163:8.
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Courtney L. Smith, Paul M. Harrison & Daniel J. Bernard. (2022) The extant immunoglobulin superfamily, member 1 gene results from an ancestral gene duplication in eutherian mammals. PLOS ONE 17:6, pages e0267744.
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Emilie Brûlé, Charlotte A Heinen, Courtney L Smith, Gauthier Schang, Yining Li, Xiang Zhou, Ying Wang, Sjoerd D Joustra, Jan M Wit, Eric Fliers, Sjoerd Repping, A S Paul van Trotsenburg & Daniel J Bernard. (2021) IGSF1 Does Not Regulate Spermatogenesis or Modify FSH Synthesis in Response to Inhibins or Activins. Journal of the Endocrine Society 5:4.
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Sjoerd D Joustra, Ferdinand Roelfsema, A S Paul van Trotsenburg, Harald J Schneider, Robert P Kosilek, Herman M Kroon, John G Logan, Natalie C Butterfield, Xiang Zhou, Chirine Toufaily, Beata Bak, Marc-Olivier Turgeon, Emilie Brûlé, Frederik J Steyn, Mark Gurnell, Olympia Koulouri, Paul Le Tissier, Pierre Fontanaud, J H Duncan Bassett, Graham R Williams, Wilma Oostdijk, Jan M Wit, Alberto M Pereira, Nienke R Biermasz, Daniel J Bernard & Nadia Schoenmakers. (2020) IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction. The Journal of Clinical Endocrinology & Metabolism 105:3, pages e70-e84.
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Daniel J. Bernard, Courtney L. Smith & Emilie Brûlé. (2020) A Tale of Two Proteins: Betaglycan, IGSF1, and the Continuing Search for the Inhibin B Receptor. Trends in Endocrinology & Metabolism 31:1, pages 37-45.
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Toshihiro Tajima, Akie Nakamura, Makiko Oguma & Masayo Yamazaki. (2019) Recent advances in research on isolated congenital central hypothyroidism. Clinical Pediatric Endocrinology 28:3, pages 69-79.
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Daniel J Bernard, Emilie Brûlé, Courtney L Smith, Sjoerd D Joustra & Jan M Wit. (2018) From Consternation to Revelation: Discovery of a Role for IGSF1 in Pituitary Control of Thyroid Function. Journal of the Endocrine Society 2:3, pages 220-231.
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Ying Wang, Emilie Brûlé, Tanya Silander, Beata Bak, Sjoerd D. Joustra & Daniel J. Bernard. (2017) The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoprotein. PLOS ONE 12:7, pages e0180731.
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Marc-Olivier Turgeon, Tanya L. Silander, Denica Doycheva, Xiao-Hui Liao, Marc Rigden, Luisina Ongaro, Xiang Zhou, Sjoerd D. Joustra, Jan M. Wit, Mike G. Wade, Heike Heuer, Samuel Refetoff & Daniel J. Bernard. (2017) TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice. Endocrinology 158:4, pages 815-830.
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Marta García, Raquel Barrio, Montserrat García-Lavandeira, Angela R. Garcia-Rendueles, Adela Escudero, Esther Díaz-Rodríguez, Darya Gorbenko Del Blanco, Ana Fernández, Yolanda B. de Rijke, Elena Vallespín, Julián Nevado, Pablo Lapunzina, Vilborg Matre, Patricia M. Hinkle, Anita C. S. Hokken-Koelega, María P. de Miguel, José Manuel Cameselle-Teijeiro, Manuel Nistal, Clara V. Alvarez & José C. Moreno. (2017) The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways. Scientific Reports 7:1.
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Qing Fang, Akima S. George, Michelle L. Brinkmeier, Amanda H. Mortensen, Peter Gergics, Leonard Y. M. Cheung, Alexandre Z. Daly, Adnan Ajmal, María Ines Pérez Millán, A. Bilge Ozel, Jacob O. Kitzman, Ryan E. Mills, Jun Z. Li & Sally A. Camper. (2016) Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. Endocrine Reviews 37:6, pages 636-675.
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Yardena Tenenbaum-RakoverMarc-Olivier TurgeonShira LondonPia HermannsJoachim PohlenzDaniel J. BernardDani Bercovich. (2016) Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation . Thyroid 26:12, pages 1693-1700.
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James N. Hughes, Matthew Aubert, Jessica Heatlie, Alison Gardner, Jozef Gecz, Thomas Morgan, Joseph Belsky & Paul Q. Thomas. (2016) Identification of an IGSF1 -specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism . Clinical Endocrinology 85:4, pages 609-615.
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S. D. Joustra, C. A. Heinen, N. Schoenmakers, M. Bonomi, B. E. P. B. Ballieux, M.-O. Turgeon, D. J. Bernard, E. Fliers, A. S. P. van Trotsenburg, M. Losekoot, L. Persani, J. M. Wit, N. R. Biermasz, A. M. Pereira & W. Oostdijk. (2016) IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management. The Journal of Clinical Endocrinology & Metabolism 101:4, pages 1627-1636.
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Sjoerd D. Joustra, Ferdinand Roelfsema, Erik Endert, Bart E.P.B. Ballieux, A.S. Paul van Trotsenburg, Eric Fliers, Eleonora P.M. Corssmit, Daniel J. Bernard, Wilma Oostdijk, Jan Maarten Wit, Alberto M. Pereira & Nienke R. Biermasz. (2016) Pituitary Hormone Secretion Profiles in IGSF1 Deficiency Syndrome. Neuroendocrinology 103:3-4, pages 408-416.
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T. Rajendra Kumar. 2016. Gonadotropins: from Bench Side to Bedside. Gonadotropins: from Bench Side to Bedside 49 84 .
Nadia Schoenmakers, Kyriaki S Alatzoglou, V Krishna Chatterjee & Mehul T Dattani. (2015) Recent advances in central congenital hypothyroidism. Journal of Endocrinology 227:3, pages R51-R71.
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Sjoerd D Joustra, Onno C Meijer, Charlotte A Heinen, Isabel M Mol, El Houari Laghmani, Rozemarijn M A Sengers, Gabriela Carreno, A S Paul van Trotsenburg, Nienke R Biermasz, Daniel J Bernard, Jan M Wit, Wilma Oostdijk, Ans M M van Pelt, Geert Hamer & Gerry T M Wagenaar. (2015) Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat. Journal of Endocrinology 226:3, pages 181-191.
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Stephanie A. Pangas & Aleksandar Rajkovic. 2015. Knobil and Neill's Physiology of Reproduction. Knobil and Neill's Physiology of Reproduction 947 995 .
Yogeshwar MakanjiJie ZhuRama MishraChris HolmquistWinifred P. S. WongNeena B. Schwartz, Kelly E. Mayo & Teresa K. Woodruff. (2014) Inhibin at 90: From Discovery to Clinical Application, a Historical Review. Endocrine Reviews 35:5, pages 747-794.
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Toshihiro TajimaAkie NakamuraShuntaro MorikawaKatsura Ishizu. (2014) Neonatal screening and a new cause of congenital central hypothyroidism. Annals of Pediatric Endocrinology & Metabolism 19:3, pages 117.
Crossref
Toshihiro Tajima, Akie Nakamura & Katsura Ishizu. (2013) A novel mutation of <i>IGSF1</i> in a Japanese patient of congenital central hypothyroidism without macroorchidism [Rapid Communication]. Endocrine Journal 60:2, pages 245-249.
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Yu Sun, Beata Bak, Nadia Schoenmakers, A S Paul van Trotsenburg, Wilma Oostdijk, Peter Voshol, Emma Cambridge, Jacqueline K White, Paul le Tissier, S Neda Mousavy Gharavy, Juan P Martinez-Barbera, Wilhelmina H Stokvis-Brantsma, Thomas Vulsma, Marlies J Kempers, Luca Persani, Irene Campi, Marco Bonomi, Paolo Beck-Peccoz, Hongdong Zhu, Timothy M E Davis, Anita C S Hokken-Koelega, Daria Gorbenko Del Blanco, Jayanti J Rangasami, Claudia A L Ruivenkamp, Jeroen F J Laros, Marjolein Kriek, Sarina G Kant, Cathy A J Bosch, Nienke R Biermasz, Natasha M Appelman-Dijkstra, Eleonora P Corssmit, Guido C J Hovens, Alberto M Pereira, Johan T den Dunnen, Michael G Wade, Martijn H Breuning, Raoul C Hennekam, Krishna Chatterjee, Mehul T Dattani, Jan M Wit & Daniel J Bernard. (2012) Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nature Genetics 44:12, pages 1375-1381.
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Thalia Robakis, Beata Bak, Shu-huei Lin, Daniel J. Bernard & Peter Scheiffele. (2008) An Internal Signal Sequence Directs Intramembrane Proteolysis of a Cellular Immunoglobulin Domain Protein. Journal of Biological Chemistry 283:52, pages 36369-36376.
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Irene E. Zohn, Kathryn V. Anderson & Lee Niswander. (2007) The Hectd1 ubiquitin ligase is required for development of the head mesenchyme and neural tube closure. Developmental Biology 306:1, pages 208-221.
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Hubertus Jarry. 2006. Molekularmedizinische Grundlagen von para- und autokrinen Regulationsstörungen. Molekularmedizinische Grundlagen von para- und autokrinen Regulationsstörungen 561 579 .
Jocelyn M. Bischof & Rachel Wevrick. (2005) Genome-wide analysis of gene transcription in the hypothalamus. Physiological Genomics 22:2, pages 191-196.
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Peter C. Gray, Louise M. Bilezikjian, Craig A. Harrison, Ezra Wiater & Wylie Vale. 2005. Hormones and the Brain. Hormones and the Brain 1 28 .

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