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Select item 51179401.

Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

Aimee D C Paulussen, Anja Steyls, Jo Vanoevelen, Florence HJ van Tienen, Ingrid P C Krapels, Godelieve RF Claes, Sonja Chocron, Crool Velter, Gita M Tan-Sindhunata, Catarina Lundin, Irene Valenzuela, Balint Nagy, Iben Bache, Lisa Leth Maroun, Kristiina Avela, Han G Brunner, Hubert J M Smeets, Jeroen Bakkers, Arthur van den Wijngaard

Eur J Hum Genet. 2016 Dec; 24(12): 1783–1791. Published online 2016 Jul 13. doi: 10.1038/ejhg.2016.91

PMCID:: PMC5117940

Abstract Article PDF–2.7M

Select item 105291752.

Considering gene therapy to protect from X‐linked deafness DFNX2 and associated neurodevelopmental disorders

Jean Defourny

Ibrain. 2022 Winter; 8(4): 431–441. Published online 2022 Sep 27. doi: 10.1002/ibra.12068

PMCID:: PMC10529175

Abstract Article PDF–2.4M

Select item 49166543.

Inactivation of Arx, the Murine Ortholog of the X-Linked Lissencephaly with Ambiguous Genitalia Gene, Leads to Severe Disorganization of the Ventral Telencephalon with Impaired Neuronal Migration and Differentiation

Elena Colombo, Patrick Collombat, Gaia Colasante, Marta Bianchi, Jason Long, Ahmed Mansouri, John L. R. Rubenstein, Vania Broccoli

J Neurosci. 2007 Apr 25; 27(17): 4786–4798. doi: 10.1523/JNEUROSCI.0417-07.2007

PMCID:: PMC4916654

Abstract Article PDF–955K

Select item 91875614.

Lower limb bone geometry in adult individuals with X-linked hypophosphatemia: an observational study

Matteo Scorcelletti, Serhan Kara, Jochen Zange, Jens Jordan, Oliver Semler, Eckhard Schönau, Jörn Rittweger, Alex Ireland, Lothar Seefried

Osteoporos Int. 2022; 33(7): 1601–1611. Published online 2022 Apr 18. doi: 10.1007/s00198-022-06385-z

PMCID:: PMC9187561

Abstract Article PDF–1.1M

Select item 41062595.

UBQLN2 Mutation Causing Heterogeneous X-linked Dominant Neurodegeneration

Akl C. Fahed, Barbara McDonough, Cynthia M. Gouvion, Kathy L. Newell, Leon S. Dure, Martina Bebin, Alexander G. Bick, J.G. Seidman, Donald H. Harter, Christine E. Seidman

Ann Neurol. Author manuscript; available in PMC 2015 May 9.

Published in final edited form as: Ann Neurol. 2014 May; 75(5): 793–798. Published online 2014 May 9. doi: 10.1002/ana.24164

PMCID:: PMC4106259

Abstract Article PDF–311K

Select item 39930136.

Association Between Expression of X-Linked Inhibitor of Apoptosis Protein and the Clinical Outcome in a BRAF^V600E-Prevalent Papillary Thyroid Cancer Population

Ji Hye Yim, Won Gu Kim, Min Ji Jeon, Ji Min Han, Tae Yong Kim, Jong Ho Yoon, Suck Joon Hong, Dong Eun Song, Gyungyub Gong, Young Kee Shong, Won Bae Kim

Thyroid. 2014 Apr 1; 24(4): 689–694. doi: 10.1089/thy.2012.0585

PMCID:: PMC3993013

Abstract Article PDF–184K

Select item 51877397.

Cosmc is an X-linked inflammatory bowel disease risk gene that spatially regulates gut microbiota and contributes to sex-specific risk

Matthew R. Kudelka, Benjamin H. Hinrichs, Trevor Darby, Carlos S. Moreno, Hikaru Nishio, Christopher E. Cutler, Jianmei Wang, Huixia Wu, Junwei Zeng, Yingchun Wang, Tongzhong Ju, Sean R. Stowell, Asma Nusrat, Rheinallt M. Jones, Andrew S. Neish, Richard D. Cummings

Proc Natl Acad Sci U S A. 2016 Dec 20; 113(51): 14787–14792. Published online 2016 Dec 7. doi: 10.1073/pnas.1612158114

PMCID:: PMC5187739

Abstract Article PDF–1.2M

Select item 85035568.

Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia

Gabriel T. Mindler, Andreas Kranzl, Alexandra Stauffer, Roland Kocijan, Rudolf Ganger, Christof Radler, Gabriele Haeusler, Adalbert Raimann

Front Endocrinol (Lausanne) 2021; 12: 754084. Published online 2021 Sep 27. doi: 10.3389/fendo.2021.754084

PMCID:: PMC8503556

Abstract Article PDF–6.3M

Select item 52228899.

Association of rs2294020 in the X-linked CCDC22 with susceptibility to autoimmune diseases with focus on systemic lupus erythematosus

Fabio D'Amico, Evangelia Skarmoutsou, Lauren J. Lo, Mariagrazia Granata, Chiara Trovato, Giulio A. Rossi, Chiara Bellocchio, Maurizio Marchini, Raffaella Scorza, Maria Clorinda Mazzarino, Alon Keinan

Immunol Lett. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: Immunol Lett. 2017 Jan; 181: 58–62. Published online 2016 Nov 22. doi: 10.1016/j.imlet.2016.11.011

PMCID:: PMC5222889

Abstract Article PDF–341K

Select item 841677910.

Osteoarthritis, Osteophytes, and Enthesophytes Affect Biomechanical Function in Adults With X-linked Hypophosphatemia

Amy Steele, Ramon Gonzalez, Juan C Garbalosa, Keith Steigbigel, Tania Grgurich, Erika J Parisi, Richard S Feinn, Steven M Tommasini, Carolyn M Macica

J Clin Endocrinol Metab. 2020 Apr; 105(4): e1798–e1814. Published online 2020 Feb 12. doi: 10.1210/clinem/dgaa064

PMCID:: PMC8416779

Abstract Article

Select item 525066911.

Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy

Nathalie Launay, Montserrat Ruiz, Laia Grau, Francisco J. Ortega, Ekaterina V. Ilieva, Juan José Martínez, Elena Galea, Isidre Ferrer, Erwin Knecht, Aurora Pujol, Stéphane Fourcade

Acta Neuropathol. 2017; 133(2): 283–301. Published online 2016 Dec 21. doi: 10.1007/s00401-016-1655-9

PMCID:: PMC5250669

Abstract Article PDF–8.9M

Select item 1042169412.

Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis

Hong T. Lin, Anita Gupta, Kevin E. Bove, Sara Szabo, Fang Xu, Anthony Krentz, Amelle L. Shillington

J Pediatr Genet. 2023 Sep; 12(3): 246–253. Published online 2021 Aug 17. doi: 10.1055/s-0041-1733940

PMCID:: PMC10421694

Abstract Article PDF–4.2M

Select item 584264813.

Increased insula-putamen connectivity in X-linked dystonia-parkinsonism

Anne J. Blood, Jeff L. Waugh, Thomas F. Münte, Marcus Heldmann, Aloysius Domingo, Christine Klein, Hans C. Breiter, Lillian V. Lee, Raymond L. Rosales, Norbert Brüggemann

Neuroimage Clin. 2018; 17: 835–846. Published online 2017 Oct 28. doi: 10.1016/j.nicl.2017.10.025

PMCID:: PMC5842648

Abstract Article PDF–810K

Select item 317265714.

Expression of X-linked Inhibitor of Apoptosis Protein in Neoplastic Thyroid Disorder

Ji Hye Yim, Jong Ho Yoon, Sun A Kim, Won Gu Kim, Min Ji Jeon, Ji Min Han, Tae Yon Sung, Tae Yong Kim, Won Bae Kim, Suck Joon Hong, Young Kee Shong, Gyungyub Gong

J Korean Med Sci. 2011 Sep; 26(9): 1191–1195. Published online 2011 Sep 1. doi: 10.3346/jkms.2011.26.9.1191

PMCID:: PMC3172657

Abstract Article PDF–3.3M

Select item 316970515.

Mutations in UBQLN2 cause dominant X-linked juvenile and adult onset ALS and ALS/dementia

Han-Xiang Deng, Wenjie Chen, Seong-Tshool Hong, Kym M. Boycott, George H. Gorrie, Nailah Siddique, Yi Yang, Faisal Fecto, Yong Shi, Hong Zhai, Hujun Jiang, Makito Hirano, Evadnie Rampersaud, Gerard H. Jansen, Sandra Donkervoort, Eileen H. Bigio, Benjamin R. Brooks, Kaouther Ajroud, Robert L. Sufit, Jonathan L. Haines, Enrico Mugnaini, Margaret Pericak-Vance, Teepu Siddique

Nature. Author manuscript; available in PMC 2012 Mar 8.

Published in final edited form as: Nature. 2011 Sep 8; 477(7363): 211–215. Published online 2011 Aug 21. doi: 10.1038/nature10353

PMCID:: PMC3169705

Article PDF–959K

Select item 667311416.

Loss of X-Linked Mental Retardation Gene Oligophrenin1 in Mice Impairs Spatial Memory and Leads to Ventricular Enlargement and Dendritic Spine Immaturity

Malik Khelfaoui, Cécile Denis, Elly van Galen, Frédéric de Bock, Alain Schmitt, Christophe Houbron, Elise Morice, Bruno Giros, Ger Ramakers, Laurent Fagni, Jamel Chelly, Marika Nosten-Bertrand, Pierre Billuart

J Neurosci. 2007 Aug 29; 27(35): 9439–9450. doi: 10.1523/JNEUROSCI.2029-07.2007