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Items: 1 to 20 of 31

1.
Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4
Tatiana Markova, Vladimir Kenis, Evgenii Melchenko, Aynur Alieva, Tatiana Nagornova, Anna Orlova, Natalya Ogorodova, Olga Shchagina, Alexander Polyakov, Elena Dadali, Sergey Kutsev
Genes (Basel) 2022 Sep; 13(9): 1512. Published online 2022 Aug 24. doi: 10.3390/genes13091512
PMCID:
PMC9498659
ArticlePDF–5.3M
2.
Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report
Taifeng Zhou, Yongqian Wang, Hang Zhou, Zhiheng Liao, Bo Gao, Deying Su, Shuhui Zheng, Caixia Xu, Peiqiang Su
BMC Med Genet. 2018; 19: 70. Published online 2018 May 3. doi: 10.1186/s12881-018-0596-7
PMCID:
PMC5934830
ArticlePDF–6.8M
3.
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia
L Bonafé, J Hästbacka, A de la Chapelle, A B Campos-Xavier, C Chiesa, A Forlino, A Superti-Furga, A Rossi
J Med Genet. Author manuscript; available in PMC 2015 Mar 17.
Published in final edited form as: J Med Genet. 2008 Dec; 45(12): 827–831. Published online 2008 Aug 15. doi: 10.1136/jmg.2007.057158
PMCID:
PMC4361899
ArticlePDF–920K
4.
Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia?
Ville M. Remes, Johanna R. Hästbacka, Mikko S. Poussa, Jari I. Peltonen
Eur Spine J. 2002 Aug; 11(4): 327–331. Published online 2002 May 29. doi: 10.1007/s00586-002-0413-y
PMCID:
PMC3610472
SummaryPDF–75K
5.
Requirements for sulfate transport and the diastrophic dysplasia sulfate transporter in fibronectin matrix assembly
Leontine L. Galante, Jean E. Schwarzbauer
J Cell Biol. 2007 Dec 3; 179(5): 999–1009. doi: 10.1083/jcb.200707150
PMCID:
PMC2099202
ArticlePDF–2.6M
6.
In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation
Fabio Pecora, Benedetta Gualeni, Antonella Forlino, Andrea Superti-Furga, Ruggero Tenni, Giuseppe Cetta, Antonio Rossi
Biochem J. 2006 Sep 15; 398(Pt 3): 509–514. Prepublished online 2006 May 23. Published online 2006 Aug 29. doi: 10.1042/BJ20060566
PMCID:
PMC1559448
ArticlePDF–181K
7.
Solute Carrier Family 26 Member a2 (Slc26a2) Protein Functions as an Electroneutral SO42−/OH−/Cl− Exchanger Regulated by Extracellular Cl−
Ehud Ohana, Nikolay Shcheynikov, Meeyoung Park, Shmuel Muallem
J Biol Chem. 2012 Feb 10; 287(7): 5122–5132. Published online 2011 Dec 21. doi: 10.1074/jbc.M111.297192
PMCID:
PMC3281620
ArticlePDF–2.1M
8.
Regulated transport of sulfate and oxalate by SLC26A2/DTDST
John F. Heneghan, Arash Akhavein, Maria J. Salas, Boris E. Shmukler, Lawrence P. Karniski, David H. Vandorpe, Seth L. Alper
Am J Physiol Cell Physiol. 2010 Jun; 298(6): C1363–C1375. Published online 2010 Mar 10. doi: 10.1152/ajpcell.00004.2010
PMCID:
PMC2889644
Article
9.
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
J. Hästbacka, A. Superti-Furga, W. R. Wilcox, D. L. Rimoin, D. H. Cohn, E. S. Lander
Am J Hum Genet. 1996 Feb; 58(2): 255–262.
PMCID:
PMC1914552
SummaryPage BrowsePDF–1.7M
10.
A genome-wide loss-of-function screen identifies SLC26A2 as a novel mediator of TRAIL resistance
Lina Y. Dimberg, Christina G. Towers, Kian Behbakht, Taylor J. Hotz, Jihye Kim, Susan Fosmire, Christopher C. Porter, Aik-Choon Tan, Andrew Thorburn, Heide L. Ford
Mol Cancer Res. Author manuscript; available in PMC 2018 Apr 1.
Published in final edited form as: Mol Cancer Res. 2017 Apr; 15(4): 382–394. Published online 2017 Jan 20. doi: 10.1158/1541-7786.MCR-16-0234
PMCID:
PMC5380511
ArticlePDF–1.7M
11.
Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution
Gail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, Geert R Mortier, Juergen Spranger, Bernhard Zabel, Martine Le Merrer, Valerie Cormier-Daire, Christine M Hall, Amaka Offiah, Michael J Wright, Ravi Savarirayan, Gen Nishimura, Simon C Ramsden, Rob Elles, Luisa Bonafe, Andrea Superti-Furga, Sheila Unger, Andreas Zankl, Michael D Briggs
Hum Mutat. 2012 Jan; 33(1): 144–157. Published online 2011 Sep 15. doi: 10.1002/humu.21611
PMCID:
PMC3272220
ArticlePDF–428K
12.
Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene
Tao Cai, Liu Yang, Wanshi Cai, Sen Guo, Ping Yu, Jinchen Li, Xueyu Hu, Ming Yan, Qianzhi Shao, Yan Jin, Zhong Sheng Sun, Zhuo-Jing Luo
Proc Natl Acad Sci U S A. 2015 Jun 30; 112(26): 8064–8069. Published online 2015 Jun 15. doi: 10.1073/pnas.1502454112
PMCID:
PMC4491795
ArticlePDF–1.1M
13.
Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish
Fei Liu, Wenjun Xia, Jiongjiong Hu, Yingzhi Wang, Fan Yang, Shaoyang Sun, Jin Zhang, Nan Jiang, Huijun Wang, Weidong Tian, Xu Wang, Duan Ma
PLoS One. 2015; 10(9): e0136832. Published online 2015 Sep 16. doi: 10.1371/journal.pone.0136832
PMCID:
PMC4573323
ArticlePDF–9.8M
14.
N6-methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation
Yuanming Cheng, Wei Xie, Brian F Pickering, Karen L Chu, Angela M Savino, Xuejing Yang, Hanzhi Luo, Diu TT Nguyen, Shanlan Mo, Ersilia Barin, Anthony Velleca, Thomas Rohwetter, Dinshaw J Patel, Samie R Jaffrey, Michael G Kharas
Cancer Cell. Author manuscript; available in PMC 2022 Jul 12.
Published in final edited form as: Cancer Cell. 2021 Jul 12; 39(7): 958–972.e8. Published online 2021 May 27. doi: 10.1016/j.ccell.2021.04.017
PMCID:
PMC8282764
ArticlePDF–3.4M
15.
Interaction of LATS1 with SMAC links the MST2/Hippo pathway with apoptosis in an IAP-dependent manner
Lucía García-Gutiérrez, Emma Fallahi, Nourhan Aboud, Niall Quinn, David Matallanas
Cell Death Dis. 2022 Aug; 13(8): 692. Published online 2022 Aug 8. doi: 10.1038/s41419-022-05147-3
PMCID:
PMC9360443
ArticlePDF–5.8M
16.
A protein-protein interaction map of the TNF-induced NF-κB signal transduction pathway
Emmy Van Quickelberghe, Delphine De Sutter, Geert van Loo, Sven Eyckerman, Kris Gevaert
Sci Data. 2018; 5: 180289. Published online 2018 Dec 18. doi: 10.1038/sdata.2018.289
PMCID:
PMC6298254
ArticlePDF–1.4M
17.
Maternal Genes and Facial Clefts in Offspring: A Comprehensive Search for Genetic Associations in Two Population-Based Cleft Studies from Scandinavia
Astanand Jugessur, Min Shi, Håkon Kristian Gjessing, Rolv Terje Lie, Allen James Wilcox, Clarice Ring Weinberg, Kaare Christensen, Abee Lowman Boyles, Sandra Daack-Hirsch, Truc Trung Nguyen, Lene Christiansen, Andrew Carl Lidral, Jeffrey Clark Murray
PLoS One. 2010; 5(7): e11493. Published online 2010 Jul 9. doi: 10.1371/journal.pone.0011493
PMCID:
PMC2901336
ArticlePDF–778K
18.
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
ArticlePDF–4.7M
19.
C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy
Bing-Ru Yan, Taoyingnan Li, Etienne Coyaud, Estelle M. N. Laurent, Jonathan St-Germain, Yuhuan Zhou, Peter K. Kim, Brian Raught, John H. Brumell
Autophagy. 2022; 18(4): 829–840. Published online 2021 Aug 25. doi: 10.1080/15548627.2021.1960116
PMCID:
PMC9037554
ArticlePDF–4.1M
20.
The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2
Joanna R. Kovalski, Aparna Bhaduri, Ashley M. Zehnder, Poornima H. Neela, Yonglu Che, Glenn G. Wozniak, Paul A. Khavari
Mol Cell. Author manuscript; available in PMC 2020 Feb 21.
Published in final edited form as: Mol Cell. 2019 Feb 21; 73(4): 830–844.e12. Published online 2019 Jan 10. doi: 10.1016/j.molcel.2018.12.001
PMCID:
PMC6386588
ArticlePDF–1.7M

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