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Items: 1 to 20 of 41

1.
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort
Lev Prasov, Ehsan Ullah, Amy E. Turriff, Blake M. Warner, Julie Conley, Paul R. Mark, Robert B. Hufnagel, Laryssa A. Huryn
Am J Med Genet A. Author manuscript; available in PMC 2021 Apr 12.
Published in final edited form as: Am J Med Genet A. 2020 Mar; 182(3): 493–497. Published online 2020 Feb 5. doi: 10.1002/ajmg.a.61484
PMCID:
PMC8041260
AbstractArticlePDF–744K
2.
A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations
Asia Parveen, Muhammad U. Mirza, Michiel Vanmeert, Javed Akhtar, Hina Bashir, Saadullah Khan, Saqib Shehzad, Matheus Froeyen, Wasim Ahmed, Muhammad Ansar, Naveed Wasif
Mol Genet Genomic Med. 2019 Sep; 7(9): e902. Published online 2019 Jul 25. doi: 10.1002/mgg3.902
PMCID:
PMC6732295
AbstractArticlePDF–1.3M
3.
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta
Nashila Hirji, Patrick D. Bradley, Shuning Li, Ajoy Vincent, Mark E. Pennesi, Akshay S. Thomas, Elise Heon, Aparna Bhan, Omar A. Mahroo, Anthony Robson, Chris F. Inglehearn, Anthony T. Moore, Michel Michaelides
Am J Ophthalmol. 2018 Apr; 188: 123–130. doi: 10.1016/j.ajo.2018.01.029
PMCID:
PMC5873517
AbstractArticlePDF–2.1M
4.
A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome
S Rahimi-Aliabadi, N Daftarian, H Ahmadieh, B Emamalizadeh, J Jamshidi, A Tafakhori, H Ghaedi, R Noroozi, S Taghavi, A Ahmadifard, E Alehabib, M Andarva, P Shokraeian, M Atakhorrami, H Darvish
Eye (Lond) 2016 Nov; 30(11): 1424–1432. Published online 2016 Jul 15. doi: 10.1038/eye.2016.137
PMCID:
PMC5108005
AbstractArticlePDF–1.2M
5.
Dental Phenotype in Jalili Syndrome Due to a c.1312 dupC Homozygous Mutation in the CNNM4 Gene
Hans U. Luder, Christina Gerth-Kahlert, Silke Ostertag-Benzinger, Daniel F. Schorderet
PLoS One. 2013; 8(10): e78529. Published online 2013 Oct 23. doi: 10.1371/journal.pone.0078529
PMCID:
PMC3806830
AbstractArticlePDF–1.4M
6.
Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta
David A. Parry, Alan J. Mighell, Walid El-Sayed, Roger C. Shore, Ismail K. Jalili, Hélène Dollfus, Agnes Bloch-Zupan, Roman Carlos, Ian M. Carr, Louise M. Downey, Katharine M. Blain, David C. Mansfield, Mehdi Shahrabi, Mansour Heidari, Parissa Aref, Mohsen Abbasi, Michel Michaelides, Anthony T. Moore, Jennifer Kirkham, Chris F. Inglehearn
Am J Hum Genet. 2009 Feb 13; 84(2): 266–273. doi: 10.1016/j.ajhg.2009.01.009
PMCID:
PMC2668026
AbstractArticlePDF–1.4M
7.
Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta
Bozena Polok, Pascal Escher, Aude Ambresin, Eliane Chouery, Sylvain Bolay, Isabelle Meunier, Francis Nan, Christian Hamel, Francis L. Munier, Bernard Thilo, André Mégarbané, Daniel F. Schorderet
Am J Hum Genet. 2009 Feb 13; 84(2): 259–265. doi: 10.1016/j.ajhg.2009.01.006
PMCID:
PMC2668018
AbstractArticlePDF–1.2M
8.
An autosomal recessive cone–rod dystrophy associated with amelogenesis imperfecta
M Michaelides, A Bloch-Zupan, G Holder, D Hunt, A Moore
J Med Genet. 2004 Jun; 41(6): 468–473. doi: 10.1136/jmg.2003.015792
PMCID:
PMC1735797
SummaryPDF–207K
9.
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome.
I K Jalili, N J Smith
J Med Genet. 1988 Nov; 25(11): 738–740. doi: 10.1136/jmg.25.11.738
PMCID:
PMC1051576
SummaryPage BrowsePDF–502K
10.
Dimerization of the CNNM extracellular domain
Ashkan Shahsavan, Emma L. Lee, Katalin Illes, Guennadi Kozlov, Kalle Gehring
Protein Sci. 2024 Feb; 33(2): e4860. Published online 2024 Feb 1. doi: 10.1002/pro.4860
PMCID:
PMC10804811
AbstractArticlePDF–4.5M
11.
Identification of a Mutation in CNNM4 by Whole Exome Sequencing in an Amish Family and Functional Link between CNNM4 and IQCB1
Sisi Li, Quansheng Xi, Xiaoyu Zhang, Dong Yu, Lin Li, Zhenyang Jiang, Qiuyun Chen, Qing K. Wang, Elias I. Traboulsi
Mol Genet Genomics. Author manuscript; available in PMC 2019 Jun 1.
Published in final edited form as: Mol Genet Genomics. 2018 Jun; 293(3): 699–710. Published online 2018 Jan 10. doi: 10.1007/s00438-018-1417-6
PMCID:
PMC5949075
AbstractArticlePDF–1.2M
12.
CNNM proteins selectively bind to the TRPM7 channel to stimulate divalent cation entry into cells
Zhiyong Bai, Jianlin Feng, Gijs A. C. Franken, Namariq Al’Saadi, Na Cai, Albert S. Yu, Liping Lou, Yuko Komiya, Joost G. J. Hoenderop, Jeroen H. F. de Baaij, Lixia Yue, Loren W. Runnels
PLoS Biol. 2021 Dec; 19(12): e3001496. Published online 2021 Dec 20. doi: 10.1371/journal.pbio.3001496
PMCID:
PMC8726484
AbstractArticlePDF–2.8M
13.
Membrane protein CNNM4–dependent Mg2+ efflux suppresses tumor progression
Yosuke Funato, Daisuke Yamazaki, Shin Mizukami, Lisa Du, Kazuya Kikuchi, Hiroaki Miki
J Clin Invest. 2014 Dec 1; 124(12): 5398–5410. Published online 2014 Oct 27. doi: 10.1172/JCI76614
PMCID:
PMC4348944
AbstractArticlePDF–4.9M
14.
Mg2+-dependent Interactions of ATP with the Cystathionine-β-Synthase (CBS) Domains of a Magnesium Transporter
Yusuke Hirata, Yosuke Funato, Yu Takano, Hiroaki Miki
J Biol Chem. 2014 May 23; 289(21): 14731–14739. Published online 2014 Apr 6. doi: 10.1074/jbc.M114.551176
PMCID:
PMC4031528
AbstractArticlePDF–2.2M
15.
Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4
Inmaculada Gómez García, Iker Oyenarte, Luis Alfonso Martínez-Cruz
Acta Crystallogr Sect F Struct Biol Cryst Commun. 2011 Mar 1; 67(Pt 3): 349–353. Published online 2011 Feb 23. doi: 10.1107/S1744309110053856
PMCID:
PMC3053161
AbstractArticlePDF–361K
16.
Basolateral Mg2+ Extrusion via CNNM4 Mediates Transcellular Mg2+ Transport across Epithelia: A Mouse Model
Daisuke Yamazaki, Yosuke Funato, Jiro Miura, Sunao Sato, Satoru Toyosawa, Kazuharu Furutani, Yoshihisa Kurachi, Yoshihiro Omori, Takahisa Furukawa, Tetsuya Tsuda, Susumu Kuwabata, Shin Mizukami, Kazuya Kikuchi, Hiroaki Miki
PLoS Genet. 2013 Dec; 9(12): e1003983. Published online 2013 Dec 5. doi: 10.1371/journal.pgen.1003983
PMCID:
PMC3854942
AbstractArticlePDF–6.0M
17.
Physical interaction and functional coupling between ACDP4 and the intracellular ion chaperone COX11, an implication of the role of ACDP4 in essential metal ion transport and homeostasis
Dehuang Guo, Jennifer Ling, Mong-Heng Wang, Jin-Xiong She, Jianguo Gu, Cong-Yi Wang
Mol Pain. 2005; 1: 15. Published online 2005 Apr 19. doi: 10.1186/1744-8069-1-15
PMCID:
PMC1097757
AbstractArticlePDF–600K
18.
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder
Manuel A R Ferreira, Michael C O’Donovan, Yan A Meng, Ian R Jones, Douglas M Ruderfer, Lisa Jones, Jinbo Fan, George Kirov, Roy H Perlis, Elaine K Green, Jordan W Smoller, Detelina Grozeva, Jennifer Stone, Ivan Nikolov, Kimberly Chambert, Marian L Hamshere, Vishwajit L Nimgaonkar, Valentina Moskvina, Michael E Thase, Sian Caesar, Gary S Sachs, Jennifer Franklin, Katherine Gordon-Smith, Kristin G Ardlie, Stacey B Gabriel, Christine Fraser, Brendan Blumenstiel, Matthew Defelice, Gerome Breen, Michael Gill, Derek W Morris, Amanda Elkin, Walter J Muir, Kevin A McGhee, Richard Williamson, Donald J MacIntyre, Alan W MacLean, David St Clair, Michelle Robinson, Margaret Van Beck, Ana C P Pereira, Radhika Kandaswamy, Andrew McQuillin, David A Collier, Nicholas J Bass, Allan H Young, Jacob Lawrence, I Nicol Ferrier, Adebayo Anjorin, Anne Farmer, David Curtis, Edward M Scolnick, Peter McGuffin, Mark J Daly, Aiden P Corvin, Peter A Holmans, Douglas H Blackwood, Wellcome Trust Case Control Consortium, Hugh M Gurling, Michael J Owen, Shaun M Purcell, Pamela Sklar, Nick Craddock
Nat Genet. Author manuscript; available in PMC 2009 Jun 30.
Published in final edited form as: Nat Genet. 2008 Sep; 40(9): 1056–1058. doi: 10.1038/ng.209
PMCID:
PMC2703780
AbstractArticlePDF–557K
19.
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4
Pamela Sklar, Stephan Ripke, Laura J. Scott, Ole A. Andreassen, Sven Cichon, Nick Craddock, Howard J. Edenberg, John I. Nurnberger, Marcella Rietschel, Douglas Blackwood, Aiden Corvin, Matthew Flickinger, Weihua Guan, Morten Mattingsdal, Andrew Mcquillin, Phoenix Kwan, Thomas F. Wienker, Mark Daly, Frank Dudbridge, Peter A. Holmans, Danyu Lin, Margit Burmeister, Tiffany A. Greenwood, Marian L. Hamshere, Pierandrea Muglia, Erin N. Smith, Peter P. Zandi, Caroline M. Nievergelt, Rebecca Mckinney, Paul D. Shilling, Nicholas J. Schork, Cinnamon S. Bloss, Tatiana Foroud, Daniel L. Koller, Elliot S. Gershon, Chunyu Liu, Judith A. Badner, William A. Scheftner, William B. Lawson, Evaristus A. Nwulia, Maria Hipolito, William Coryell, John P. Rice, William Byerley, Francis J. McMahon, Thomas G. Schulze, Wade Berrettini, Falk W. Lohoff, James B. Potash, Pamela B. Mahon, Melvin G. Mcinnis, Sebastian Zöllner, Peng Zhang, David W. Craig, Szabocls Szelinger, Thomas B. Barrett, René Breuer, Sandra Meier, Jana Strohmaier, Stephanie H. Witt, Federica Tozzi, Anne Farmer, Peter McGuffin, John Strauss, Wei Xu, James L. Kennedy, John B. Vincent, Keith Matthews, Richard Day, Manuel D.C. Ferreira, Colm O'Dushlaine, Roy Perlis, Soumya Raychaudhuri, Douglas Ruderfer, Phil L. Hyoun, Jordan W. Smoller, Jun Li, Devin Absher, Robert C. Thompson, Fan Guo Meng, Alan F. Schatzberg, William E. Bunney, Jack D. Barchas, Edward G. Jones, Stanley J. Watson, Richard M. Myers, Huda Akil, Michael Boehnke, Kim Chambert, Jennifer Moran, Ed Scolnick, Srdjan Djurovic, Ingrid Melle, Gunnar Morken, Michael Gill, Derek Morris, Emma Quinn, Thomas W. Mühleisen, Franziska A. Degenhardt, Manuel Mattheisen, Johannes Schumacher, Wolfgang Maier, Michael Steffens, Peter Propping, Markus M. Nöthen, Adebayo Anjorin, Nick Bass, Hugh Gurling, Radhika Kandaswamy, Jacob Lawrence, Kevin Mcghee, Andrew Mcintosh, Alan W. Mclean, Walter J. Muir, Benjamin S. Pickard, Gerome Breen, David St Clair, Sian Caesar, Katherine Gordon-Smith, Lisa Jones, Christine Fraser, Elaine K. Green, Detelina Grozeva, Ian R. Jones, George Kirov, Valentina Moskvina, Ivan Nikolov, Michael C. O'Donovan, Michael J. Owen, David A. Collier, Amanda Elkin, Richard Williamson, Allan H. Young, I Nicol Ferrier, Kari Stefansson, Hreinn Stefansson, Porgeir Porgeirsson, Stacy Steinberg, Omar Gustafsson, Sarah E. Bergen, Vishwajit Nimgaonkar, Christina hultman, Mikael Landén, Paul Lichtenstein, Patrick Sullivan, Martin Schalling, Urban Osby, Lena Backlund, Louise Frisén, Niklas Langstrom, Stéphane Jamain, Marion Leboyer, Bruno Etain, Frank Bellivier, Hannes Petursson, Engilbert Sigur Sson, Bertram Müller-Mysok, Susanne Lucae, Markus Schwarz, Peter R. Schofield, Nick Martin, Grant W. Montgomery, Mark Lathrop, Högni Oskarsson, Michael Bauer, Adam Wright, Philip B. Mitchell, Martin Hautzinger, Andreas Reif, John R. Kelsoe, Shaun M. Purcell
Nat Genet. Author manuscript; available in PMC 2013 May 1.
Published in final edited form as: Nat Genet. 2011 Oct; 43(10): 977–983. Published online 2011 Sep 18. doi: 10.1038/ng.943
Correction in:
volume 44 on page 1072
PMCID:
PMC3637176
AbstractArticle
20.
Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma
Suzannah G. Miller, Maria Hoh, Christopher C. Ebmeier, Jian Wei Tay, Natalie G. Ahn
Mol Biol Cell. 2024 Mar 1; 35(3): ar31. Published online 2024 Jan 29. doi: 10.1091/mbc.E23-06-0255
PMCID:
PMC10916866
AbstractArticlePDF–4.7M

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