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Items: 1 to 20 of 29

1.
ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism
ZENG Wang, LI Jiada, WANG Xinying, JIANG Fang, MEN Meichao
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jul 28; 47(7): 847–857. doi: 10.11817/j.issn.1672-7347.2022.220071
PMCID:
PMC10930292
AbstractArticlePDF–1.0M
2.
Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1
Guoming Chu, Pingping Li, Qian Zhao, Rong He, Yanyan Zhao
Reprod Biol Endocrinol. 2023; 21: 23. Published online 2023 Mar 1. doi: 10.1186/s12958-023-01074-w
PMCID:
PMC9976430
AbstractArticlePDF–4.2M
3.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
4.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
5.
Anosmin-1 Modulates Fibroblast Growth Factor Receptor 1 Signaling in Human Gonadotropin-Releasing Hormone Olfactory Neuroblasts through a Heparan Sulfate-Dependent Mechanism
David González-Martínez, Soo-Hyun Kim, Youli Hu, Scott Guimond, Jonathan Schofield, Paul Winyard, Gabriella Barbara Vannelli, Jeremy Turnbull, Pierre-Marc Bouloux
J Neurosci. 2004 Nov 17; 24(46): 10384–10392. doi: 10.1523/JNEUROSCI.3400-04.2004
PMCID:
PMC6730313
AbstractArticlePDF–540K
6.
FGF-2 and Anosmin-1 Are Selectively Expressed in Different Types of Multiple Sclerosis Lesions
Diego Clemente, María Cristina Ortega, Francisco Javier Arenzana, Fernando de Castro
J Neurosci. 2011 Oct 19; 31(42): 14899–14909. doi: 10.1523/JNEUROSCI.1158-11.2011
PMCID:
PMC6623557
AbstractArticlePDF–4.3M
7.
ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1
Fernando de Castro, Ruth Seal, Roberto Maggi, on behalf of Group of HGNC consultants for KAL1 nomenclature
Brief Funct Genomics. 2017 Jul; 16(4): 205–210. Published online 2016 Nov 13. doi: 10.1093/bfgp/elw037
PMCID:
PMC5860151
AbstractArticlePDF–173K
8.
VIRMA mediates preferential m6A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation
Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu
Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0
PMCID:
PMC5826926
AbstractArticlePDF–2.3M
9.
Study on molecular mechanism of ANOS1 promoting development of colorectal cancer
Lu Qi, Wenjuan Zhang, Zhiqiang Cheng, Na Tang, Yanqing Ding
PLoS One. 2017; 12(8): e0182964. Published online 2017 Aug 30. doi: 10.1371/journal.pone.0182964
PMCID:
PMC5576693
AbstractArticlePDF–4.1M
10.
Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD)
Mark J. McCabe, Youli Hu, Louise C. Gregory, Carles Gaston-Massuet, Kyriaki S. Alatzoglou, José W. Saldanha, Angelica Gualtieri, Ajay Thankamony, Ieuan Hughes, Sharron Townshend, Juan-Pedro Martinez-Barbera, Pierre-Marc Bouloux, Mehul T. Dattani
Mol Cell Endocrinol. 2015 Dec 5; 417: 63–72. doi: 10.1016/j.mce.2015.09.010
PMCID:
PMC4646839
AbstractArticlePDF–2.0M
11.
Point mutations in KAL1 and the mitochondrial gene MT-tRNAcys synergize to produce Kallmann syndrome phenotype
Fei Wang, Guo-dong Huang, Hui Tian, Ying-bin Zhong, Hui-juan Shi, Zheng Li, Xian-sheng Zhang, Han Wang, Fei Sun
Sci Rep. 2015; 5: 13050. Published online 2015 Aug 17. doi: 10.1038/srep13050
PMCID:
PMC4642522
AbstractArticlePDF–1.3M
12.
Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life
Julie Sarfati, Claire Bouvattier, Hélène Bry-Gauillard, Alejandra Cartes, Jérôme Bouligand, Jacques Young
Orphanet J Rare Dis. 2015; 10: 71. Published online 2015 Jun 9. doi: 10.1186/s13023-015-0287-9
PMCID:
PMC4469106
AbstractArticlePDF–2.1M
13.
A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome
Antonette Souto El Husny, Milene Raiol-Moraes, Milena Coelho Fernandes-Caldato, Ândrea Ribeiro-dos-Santos
Appl Clin Genet. 2014; 7: 177–182. Published online 2014 Sep 30. doi: 10.2147/TACG.S64280
PMCID:
PMC4196791
AbstractArticlePDF–608K
14.
Anosmin-1 contributes to brain tumor malignancy through integrin signal pathways
Catherine T Choy, Haseong Kim, Ji-Young Lee, David M Williams, David Palethorpe, Greg Fellows, Alan J Wright, Ken Laing, Leslie R Bridges, Franklyn A Howe, Soo-Hyun Kim
Endocr Relat Cancer. 2014 Feb; 21(1): 85–99. Prepublished online 2013 Nov 4. doi: 10.1530/ERC-13-0181
PMCID:
PMC3869950
AbstractArticlePDF–503K
15.
Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China
Kai-Fa Tang, Qi-Fei Wu, Tie-Jun Zou, Wei Xue, Xin-Yang Wang, Jun-Ping Xing
Asian J Androl. 2009 Nov; 11(6): 711–715. Published online 2009 Sep 7. doi: 10.1038/aja.2009.52
PMCID:
PMC3735323
AbstractArticlePDF–405K
16.
Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes
Flavia Amanda Costa-Barbosa, Ravikumar Balasubramanian, Kimberly W. Keefe, Natalie D. Shaw, Nada Al-Tassan, Lacey Plummer, Andrew A. Dwyer, Cassandra L. Buck, Jin-Ho Choi, Stephanie B. Seminara, Richard Quinton, Dorota Monies, Brian Meyer, Janet E. Hall, Nelly Pitteloud, William F. Crowley, Jr
J Clin Endocrinol Metab. 2013 May; 98(5): E943–E953. Published online 2013 Mar 26. doi: 10.1210/jc.2012-4116
PMCID:
PMC3644607
AbstractArticle
17.
Transforming growth factor-β regulates the expression of anosmin (KAL-1) in human retinal pigment epithelial cells
Raghavan Raju, Bixi Jian, John J. Hooks, Chandrasekharam N. Nagineni
Cytokine. Author manuscript; available in PMC 2014 Mar 1.
Published in final edited form as: Cytokine. 2013 Mar; 61(3): 724–727. Published online 2013 Jan 26. doi: 10.1016/j.cyto.2012.12.019
PMCID:
PMC3595383
AbstractArticlePDF–987K
18.
A Census of Human Soluble Protein Complexes
Pierre C. Havugimana, G. Traver Hart, Tamás Nepusz, Haixuan Yang, Andrei L. Turinsky, Zhihua Li, Peggy I. Wang, Daniel R. Boutz, Vincent Fong, Sadhna Phanse, Mohan Babu, Stephanie A. Craig, Pingzhao Hu, Cuihong Wan, James Vlasblom, Vaqaarun-Nisa Dar, Alexander Bezginov, Gregory W. Clark, Gabriel C. Wu, Shoshana J. Wodak, Elisabeth R.M. Tillier, Alberto Paccanaro, Edward M. Marcotte, Andrew Emili
Cell. Author manuscript; available in PMC 2013 Aug 31.
Published in final edited form as: Cell. 2012 Aug 31; 150(5): 1068–1081. doi: 10.1016/j.cell.2012.08.011
PMCID:
PMC3477804
AbstractArticlePDF–7.7M
19.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
20.
Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland
Eeva-Maria Laitinen, Kirsi Vaaralahti, Johanna Tommiska, Elina Eklund, Mari Tervaniemi, Leena Valanne, Taneli Raivio
Orphanet J Rare Dis. 2011; 6: 41. Published online 2011 Jun 17. doi: 10.1186/1750-1172-6-41
PMCID:
PMC3143089
AbstractArticlePDF–755K

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