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Select item 109302921.

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

Abstract Article PDF–1.0M

Select item 46468392.

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

Abstract Article PDF–2.0M

Select item 41967913.

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

Abstract Article PDF–608K

Select item 38699504.

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

Abstract Article PDF–503K

Select item 37353235.

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

Abstract Article PDF–405K

Select item 35953836.

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

Abstract Article PDF–987K

Select item 16837767.

Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

T Meitinger, B Heye, C Petit, J Levilliers, A Golla, C Moraine, B Dalla Piccola, W G Sippell, J Murken, A Ballabio

Am J Hum Genet. 1990 Oct; 47(4): 664–669.

Correction in:: Am J Hum Genet. 1990 Nov; 47(5): 883.

PMCID:: PMC1683776

Summary Page Browse PDF–971K

Select item 12219958.

Molecular modelling and experimental studies of mutation and cell-adhesion sites in the fibronectin type III and whey acidic protein domains of human anosmin-1.

A Robertson, G S MacColl, J A Nash, M K Boehm, S J Perkins, P M Bouloux

Biochem J. 2001 Aug 1; 357(Pt 3): 647–659. doi: 10.1042/0264-6021:3570647

PMCID:: PMC1221995

Summary PDF–575K

Select item 11341359.

Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator

Youli Hu, David González-Martínez, Soo-Hyun Kim, Pierre Marc Gilles Bouloux

Biochem J. 2004 Dec 15; 384(Pt 3): 495–505. Prepublished online 2004 Aug 23. Published online 2004 Dec 7. doi: 10.1042/BJ20041078

PMCID:: PMC1134135

Abstract Article PDF–632K

Select item 997643010.

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

Abstract Article PDF–4.2M

Select item 662355711.

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

Abstract Article PDF–4.3M

Select item 586015112.

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

Abstract Article PDF–173K

Select item 557669313.

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

Abstract Article PDF–4.1M

Select item 446910614.

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

Abstract Article PDF–2.1M

Select item 314308915.

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

Abstract Article PDF–755K

Select item 364460716.

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

Abstract Article

Select item 161713017.

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

Catherine Dodé, Luis Teixeira, Jacqueline Levilliers, Corinne Fouveaut, Philippe Bouchard, Marie-Laure Kottler, James Lespinasse, Anne Lienhardt-Roussie, Michèle Mathieu, Alexandre Moerman, Graeme Morgan, Arnaud Murat, Jean-Edmont Toublanc, Slawomir Wolczynski, Marc Delpech, Christine Petit, Jacques Young, Jean-Pierre Hardelin

PLoS Genet. 2006 Oct; 2(10): e175. Prepublished online 2006 Aug 31. Published online 2006 Oct 20. doi: 10.1371/journal.pgen.0020175

PMCID:: PMC1617130

Abstract Article PDF–174K

Select item 673031318.

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