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Select item 103933931.

Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema

Emma M J Passchier, Sven Kerst, Eelke Brouwers, Eline M C Hamilton, Quinty Bisseling, Marianna Bugiani, Quinten Waisfisz, Philip Kitchen, Lucas Unger, Marjolein Breur, Leoni Hoogterp, Sharon I de Vries, Truus E M Abbink, Maarten H P Kole, Rob Leurs, Henry F Vischer, Maria S Brignone, Elena Ambrosini, François Feillet, Alfred P Born, Leon G Epstein, Huibert D Mansvelder, Rogier Min, Marjo S van der Knaap

Brain. 2023 Aug; 146(8): 3444–3454. Published online 2023 May 5. doi: 10.1093/brain/awad146

PMCID:: PMC10393393

Abstract Article PDF–1.1M

Select item 93144842.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 83698413.

Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins

Marta Alonso-Gardón, Xabier Elorza-Vidal, Aida Castellanos, Gina La Sala, Mercedes Armand-Ugon, Alice Gilbert, Chiara Di Pietro, Adrià Pla-Casillanis, Francisco Ciruela, Xavier Gasull, Virginia Nunes, Albert Martínez, Uwe Schulte, Martine Cohen-Salmon, Daniela Marazziti, Raúl Estévez

Hum Mol Genet. 2021 Sep 1; 30(17): 1649–1665. Published online 2021 Jun 7. doi: 10.1093/hmg/ddab155

PMCID:: PMC8369841

Abstract Article PDF–3.6M

Select item 74972894.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 72429115.

Targeting Aquaporin-4 Subcellular Localization to Treat Central Nervous System Edema

Philip Kitchen, Mootaz M. Salman, Andrea M. Halsey, Charlotte Clarke-Bland, Justin A. MacDonald, Hiroaki Ishida, Hans J. Vogel, Sharif Almutiri, Ann Logan, Stefan Kreida, Tamim Al-Jubair, Julie Winkel Missel, Pontus Gourdon, Susanna Törnroth-Horsefield, Matthew T. Conner, Zubair Ahmed, Alex C. Conner, Roslyn M. Bill

Cell. 2020 May 14; 181(4): 784–799.e19. doi: 10.1016/j.cell.2020.03.037

PMCID:: PMC7242911

Abstract Article

Select item 72066536.

Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies

Xabier Elorza-Vidal, Efren Xicoy-Espaulella, Adrià Pla-Casillanis, Marta Alonso-Gardón, Héctor Gaitán-Peñas, Carolyn Engel-Pizcueta, Juan Fernández-Recio, Raúl Estévez

Hum Mol Genet. 2020 May 8; 29(7): 1107–1120. Published online 2020 Jan 21. doi: 10.1093/hmg/ddaa009

PMCID:: PMC7206653

Abstract Article PDF–1.9M

Select item 59027847.

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants

Eline M.C. Hamilton, Pinar Tekturk, Fia Cialdella, Diane F. van Rappard, Nicole I. Wolf, Cengiz Yalcinkaya, Ümran Çetinçelik, Ahmad Rajaee, Ariana Kariminejad, Justyna Paprocka, Zuhal Yapici, Vlatka Mejaški Bošnjak, Marjo S. van der Knaap

Neurology. 2018 Apr 17; 90(16): e1395–e1403. doi: 10.1212/WNL.0000000000005334

PMCID:: PMC5902784

Abstract Article PDF–1.0M

Select item 59009998.

Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts

Mohit Dubey, Eelke Brouwers, Eline M.C. Hamilton, Oliver Stiedl, Marianna Bugiani, Henner Koch, Maarten H.P. Kole, Ursula Boschert, Robert C. Wykes, Huibert D. Mansvelder, Marjo S. van der Knaap, Rogier Min

Ann Neurol. 2018 Mar; 83(3): 636–649. Published online 2018 Mar 13. doi: 10.1002/ana.25190

PMCID:: PMC5900999

Abstract Article PDF–1.0M

Select item 55878259.

A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22

Sun Ah Choi, Soo Yeon Kim, Jihoo Yoon, Joongmoon Choi, Sung Sup Park, Moon-Woo Seong, Hunmin Kim, Hee Hwang, Ji Eun Choi, Jong Hee Chae, Ki Joong Kim, Seunghyo Kim, Yun-Jin Lee, Sang Ook Nam, Byung Chan Lim

Ann Lab Med. 2017 Nov; 37(6): 516–521. Published online 2017 Aug 16. doi: 10.3343/alm.2017.37.6.516

PMCID:: PMC5587825

Abstract Article PDF–4.2M

Select item 509815310.

HepaCAM associates with connexin 43 and enhances its localization in cellular junctions

Meihui Wu, Mei Chung Moh, Herbert Schwarz

Sci Rep. 2016; 6: 36218. Published online 2016 Nov 7. doi: 10.1038/srep36218

PMCID:: PMC5098153

Abstract Article PDF–1.0M

Select item 478551911.

MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts

Shino Shimada, Keiko Shimojima, Teruaki Masuda, Yoshiaki Nakayama, Toshihiko Kohji, Hiroko Tsukamoto, Tadashi Matsubasa, Akira Oka, Toshiyuki Yamamoto

Hum Genome Var. 2014; 1: 14019. Published online 2014 Oct 30. doi: 10.1038/hgv.2014.19

PMCID:: PMC4785519

Abstract Article PDF–401K

Select item 473192512.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 454475313.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 438163114.

MLC1 protein: a likely link between leukodystrophies and brain channelopathies

Maria S. Brignone, Angela Lanciotti, Serena Camerini, Chiara De Nuccio, Tamara C. Petrucci, Sergio Visentin, Elena Ambrosini

Front Cell Neurosci. 2015; 9: 66. Published online 2015 Apr 1. doi: 10.3389/fncel.2015.00106

PMCID:: PMC4381631

Abstract Article PDF–3.5M

Select item 388581315.

Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model

Anna Duarri, Miguel Lopez de Heredia, Xavier Capdevila-Nortes, Margreet C. Ridder, Marisol Montolio, Tania López-Hernández, Ilja Boor, Chun-Fu Lien, Tracy Hagemann, Albee Messing, Dariusz C. Gorecki, Gert C. Scheper, Albert Martínez, Virginia Nunes, Marjo S. van der Knaap, Raúl Estévez

Neurobiol Dis. Author manuscript; available in PMC 2014 Jan 9.

Published in final edited form as: Neurobiol Dis. 2011 Jul; 43(1): 10.1016/j.nbd.2011.03.015. Published online 2011 Apr 3. doi: 10.1016/j.nbd.2011.03.015

PMCID:: PMC3885813

Abstract Article PDF–6.8M

Select item 385821016.

Physiological Roles of Aquaporin-4 in Brain

Erlend A. Nagelhus, Ole P. Ottersen

Physiol Rev. 2013 Oct; 93(4): 1543–1562. doi: 10.1152/physrev.00011.2013

PMCID:: PMC3858210

Abstract Article

Select item 333481917.

GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a ClC-2 Cl⁻ Channel Auxiliary Subunit

Elena Jeworutzki, Tania López-Hernández, Xavier Capdevila-Nortes, Sònia Sirisi, Luiza Bengtsson, Marisol Montolio, Giovanni Zifarelli, Tanit Arnedo, Catrin S. Müller, Uwe Schulte, Virginia Nunes, Albert Martínez, Thomas J. Jentsch, Xavier Gasull, Michael Pusch, Raúl Estévez

Neuron. 2012 Mar 8; 73(5): 951–961. doi: 10.1016/j.neuron.2011.12.039

PMCID:: PMC3334819

Abstract Article

Select item 307190918.

Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

Tania López-Hernández, Margreet C. Ridder, Marisol Montolio, Xavier Capdevila-Nortes, Emiel Polder, Sònia Sirisi, Anna Duarri, Uwe Schulte, Bernd Fakler, Virginia Nunes, Gert C. Scheper, Albert Martínez, Raúl Estévez, Marjo S. van der Knaap

Am J Hum Genet. 2011 Apr 8; 88(4): 422–432. doi: 10.1016/j.ajhg.2011.02.009

PMCID:: PMC3071909

Abstract Article PDF–1.3M

Select item 267081919.

Jacobsen syndrome

Teresa Mattina, Concetta Simona Perrotta, Paul Grossfeld

Orphanet J Rare Dis. 2009; 4: 9. Published online 2009 Mar 7. doi: 10.1186/1750-1172-4-9

PMCID:: PMC2670819

Abstract Article PDF–729K

Select item 203985720.

MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet

Ilja Boor, Machiel Nagtegaal, Wouter Kamphorst, Paul van der Valk, Jan C. Pronk, Jack van Horssen, Argirios Dinopoulos, Kevin E. Bove, Ignacio Pascual-Castroviejo, Francesco Muntoni, Raúl Estévez, Gert C. Scheper, Marjo S. van der Knaap

Acta Neuropathol. 2007 Oct; 114(4): 403–410. Published online 2007 Jul 13. doi: 10.1007/s00401-007-0247-0

PMCID:: PMC2039857

Abstract Article PDF–663K

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