PMC Links for GEO Profiles (Select 117695682) - PMC

Select item 90248241.

Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations

Melitza S. M. Elizabeth, Anita Hokken-Koelega, Jenny A. Visser, Sjoerd D. Joustra, Laura C. G. de Graaff

Genes (Basel) 2022 Apr; 13(4): 623. Published online 2022 Mar 30. doi: 10.3390/genes13040623

PMCID:: PMC9024824

Abstract Article PDF–1.1M

Select item 71087612.

IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction

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

J Clin Endocrinol Metab. 2020 Mar; 105(3): e70–e84. Published online 2019 Oct 25. doi: 10.1210/clinem/dgz093

PMCID:: PMC7108761

Abstract Article

Select item 61666823.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 48801784.

IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

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

J Clin Endocrinol Metab. 2016 Apr; 101(4): 1627–1636. Published online 2016 Feb 3. doi: 10.1210/jc.2015-3880

Correction in:: J Clin Endocrinol Metab. 2017 Jun 1; 102(6): 2125.

PMCID:: PMC4880178

Abstract Article

Select item 43678575.

New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing

Fernanda Luisa Basei, Gabriela Vaz Meirelles, Germanna Lima Righetto, Deivid Lucas dos Santos Migueleti, Juliana Helena Costa Smetana, Jörg Kobarg

Proteome Sci. 2015; 13: 11. Published online 2015 Feb 26. doi: 10.1186/s12953-015-0065-6

PMCID:: PMC4367857

Abstract Article PDF–3.1M

Select item 42727596.

Is IGSF1 involved in human pituitary tumor formation?

Fabio R. Faucz, Anelia D. Horvath, Monalisa F. Azevedo, Isaac Levy, Beata Bak, Ying Wang, Paraskevi Xekouki, Eva Szarek, Evgenia Gourgari, Allison D. Manning, Rodrigo Bertollo de Alexandre, Emmanouil Saloustros, Giampaolo Trivellin, Maya Lodish, Paul Hofman, Yvonne C Anderson, Ian Holdaway, Edward Oldfield, Prashant Chittiboina, Maria Nesterova, Nienke R. Biermasz, Jan M. Wit, Daniel J. Bernard, Constantine A. Stratakis

Endocr Relat Cancer. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: Endocr Relat Cancer. 2015 Feb; 22(1): 47–54. Published online 2014 Dec 19. doi: 10.1530/ERC-14-0465

PMCID:: PMC4272759

Abstract Article PDF–709K

Select item 35115877.

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

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

Nat Genet. Author manuscript; available in PMC 2013 Jun 1.

Published in final edited form as: Nat Genet. 2012 Dec; 44(12): 1375–1381. Published online 2012 Nov 11. doi: 10.1038/ng.2453

PMCID:: PMC3511587

Abstract Article PDF–2.2M

Select item 26623018.

An Internal Signal Sequence Directs Intramembrane Proteolysis of a Cellular Immunoglobulin Domain Protein

Thalia Robakis, Beata Bak, Shu-huei Lin, Daniel J. Bernard, Peter Scheiffele

J Biol Chem. 2008 Dec 26; 283(52): 36369–36376. doi: 10.1074/jbc.M807527200

PMCID:: PMC2662301

Abstract Article PDF–489K

Select item 13561299.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Abstract Article PDF–438K

Select item 134750110.

The LIFEdb database in 2006

Alexander Mehrle, Heiko Rosenfelder, Ingo Schupp, Coral del Val, Dorit Arlt, Florian Hahne, Stephanie Bechtel, Jeremy Simpson, Oliver Hofmann, Winston Hide, Karl-Heinz Glatting, Wolfgang Huber, Rainer Pepperkok, Annemarie Poustka, Stefan Wiemann

Nucleic Acids Res. 2006 Jan 1; 34(Database issue): D415–D418. Published online 2005 Dec 28. doi: 10.1093/nar/gkj139

PMCID:: PMC1347501

Abstract Article PDF–301K

Select item 52893011.

From ORFeome to Biology: A Functional Genomics Pipeline

Stefan Wiemann, Dorit Arlt, Wolfgang Huber, Ruth Wellenreuther, Simone Schleeger, Alexander Mehrle, Stephanie Bechtel, Mamatha Sauermann, Ulrike Korf, Rainer Pepperkok, Holger Sültmann, Annemarie Poustka

Genome Res. 2004 Oct; 14(10b): 2136–2144. doi: 10.1101/gr.2576704

PMCID:: PMC528930

Abstract Article PDF–459K

Select item 31094812.

DNA Cloning Using In Vitro Site-Specific Recombination

James L. Hartley, Gary F. Temple, Michael A. Brasch

Genome Res. 2000 Nov; 10(11): 1788–1795. doi: 10.1101/gr.143000

PMCID:: PMC310948

Abstract Article PDF–1.7M

Select item 18754213.

Protein–Protein Interactions Between Large Proteins: Two-Hybrid Screening Using a Functionally Classified Library Composed of Long cDNAs

Manabu Nakayama, Reiko Kikuno, Osamu Ohara

Genome Res. 2002 Nov; 12(11): 1773–1784. doi: 10.1101/gr.406902

PMCID:: PMC187542

Abstract Article PDF–374K

Select item 13924114.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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