PMC Articles for MedGen (Select 162893) - PMC

Links from MedGen

Items: 1 to 20 of 500

<< First< Prev

Page of 25

Select item 73964631.

A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum

Naema Al Shibli, Almundher Al-Maawali, Alaa Elmanzalawy, Maryam Al-Nabhani, Roshan Koul, Ahlam Gabr, Fathiya Al Murshedi

J Pediatr Genet. 2020 Dec; 9(4): 293–295. Published online 2020 Jan 6. doi: 10.1055/s-0039-1700975

PMCID:: PMC7396463

Abstract Article PDF–155K

Select item 31510882.

Transit Defect of Potassium-Chloride Co-transporter 3 Is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Adèle Salin-Cantegrel, Jean-Baptiste Rivière, Masoud Shekarabi, Sarah Rasheed, Sandra DaCal, Janet Laganière, Rébecca Gaudet, Daniel Rochefort, Gaëtan Lesca, Claudia Gaspar, Patrick A. Dion, Jean-Yves Lapointe, Guy A. Rouleau

J Biol Chem. 2011 Aug 12; 286(32): 28456–28465. Published online 2011 May 31. doi: 10.1074/jbc.M111.226894

PMCID:: PMC3151088

Abstract Article PDF–1.8M

Select item 67776133.

Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs

Mario Van Poucke, Kimberley Stee, Laurien Sonck, Emmelie Stock, Leslie Bosseler, Jo Van Dorpe, Filip Van Nieuwerburgh, Dieter Deforce, Luc J. Peelman, Luc Van Ham, Sofie F. M. Bhatti, Bart J. G. Broeckx

Eur J Hum Genet. 2019 Oct; 27(10): 1561–1568. Published online 2019 Jun 3. doi: 10.1038/s41431-019-0432-3

PMCID:: PMC6777613

Abstract Article PDF–964K

Select item 29449594.

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

Laura Southgate, Dimitra Dafou, Jacqueline Hoyle, Nan Li, Esther Kinning, Peter Critchley, Andrea H. Németh, Kevin Talbot, Parayil S. Bindu, Sanjib Sinha, Arun B. Taly, Seetharam Raghavendra, Ferenc Müller, Eamonn R. Maher, Richard C. Trembath

Neurogenetics. 2010; 11(4): 379–389. Published online 2010 Apr 14. doi: 10.1007/s10048-010-0243-8

PMCID:: PMC2944959

Abstract Article PDF–915K

Select item 28854625.

Mutations affecting GABAergic signaling in seizures and epilepsy

Aristea S. Galanopoulou

Pflugers Arch. Author manuscript; available in PMC 2011 Jul 1.

Published in final edited form as: Pflugers Arch. 2010 Jul; 460(2): 505–523. Published online 2010 Mar 30. doi: 10.1007/s00424-010-0816-2

PMCID:: PMC2885462

Abstract Article PDF–1.6M

Select item 85521606.

Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy

Petya Bogdanova-Mihaylova, Patricia McNamara, Sarah Burton-Jones, Sinéad M Murphy

BMJ Case Rep. 2021; 14(10): e244641. Published online 2021 Oct 27. doi: 10.1136/bcr-2021-244641

PMCID:: PMC8552160

Abstract Article PDF–405K

Select item 110747187.

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

Joohyun Park, Bianca R. Flores, Katalin Scherer, Hanna Kuepper, Mari Rossi, Katrin Rupprich, Maren Rautenberg, Natalie Deininger, Annette Weichselbaum, Alexander Grimm, Marc Sturm, Ute Grasshoff, Eric Delpire, Tobias B. Haack

J Med Genet. Author manuscript; available in PMC 2024 May 7.

Published in final edited form as: J Med Genet. 2020 Apr; 57(4): 283–288. Published online 2019 Aug 22. doi: 10.1136/jmedgenet-2019-106273

PMCID:: PMC11074718

Abstract Article PDF–774K

Select item 19149478.

The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.

L. K. Casaubon, M. Melanson, I. Lopes-Cendes, C. Marineau, E. Andermann, F. Andermann, J. Weissenbach, C. Prévost, J. P. Bouchard, J. Mathieu, G. A. Rouleau

Am J Hum Genet. 1996 Jan; 58(1): 28–34.

PMCID:: PMC1914947

Summary Page Browse PDF–1006K

Select item 22428589.

Axonal and Periaxonal Swelling Precede Peripheral Neurodegeneration in KCC3 Knockout Mice

Nellie Byun, Eric Delpire

Neurobiol Dis. Author manuscript; available in PMC 2008 Oct 1.

Published in final edited form as: Neurobiol Dis. 2007 Oct; 28(1): 39–51. Published online 2007 Jun 23. doi: 10.1016/j.nbd.2007.06.014

PMCID:: PMC2242858

Abstract Article PDF–807K

Select item 480813610.

Hyperpolarization-independent maturation and refinement of GABA/glycinergic connections in the auditory brain stem

Hanmi Lee, Eva Bach, Jihyun Noh, Eric Delpire, Karl Kandler

J Neurophysiol. 2016 Mar 1; 115(3): 1170–1182. Published online 2015 Dec 9. doi: 10.1152/jn.00926.2015

PMCID:: PMC4808136

Abstract Article

Select item 486008111.

A Glial K/Cl Transporter Controls Neuronal Receptive-Ending Shape by Chloride Inhibition of an rGC

Aakanksha Singhvi, Bingqian Liu, Christine J. Friedman, Jennifer Fong, Yun Lu, Xin-Yun Huang, Shai Shaham

Cell. Author manuscript; available in PMC 2017 May 5.

Published in final edited form as: Cell. 2016 May 5; 165(4): 936–948. Published online 2016 Apr 7. doi: 10.1016/j.cell.2016.03.026

PMCID:: PMC4860081

Abstract Article PDF–2.2M

Select item 403999912.

Effects of o-vanillin on K⁺ transport of red blood cells from patients with sickle cell disease

A. Hannemann, U.M.C. Cytlak, O.T. Gbotosho, D.C. Rees, S. Tewari, J.S. Gibson

Blood Cells Mol Dis. 2014 Jun; 53(1-2): 21–26. doi: 10.1016/j.bcmd.2014.02.004

PMCID:: PMC4039999

Abstract Article

Select item 404216813.

Discovery of biclonal origin and a novel oncogene SLC12A5 in colon cancer by single-cell sequencing

Chang Yu, Jun Yu, Xiaotian Yao, William KK Wu, Youyong Lu, Senwei Tang, Xiangchun Li, Li Bao, Xiaoxing Li, Yong Hou, Renhua Wu, Min Jian, Ruoyan Chen, Fan Zhang, Lixia Xu, Fan Fan, Jun He, Qiaoyi Liang, Hongyi Wang, Xueda Hu, Minghui He, Xiang Zhang, Hancheng Zheng, Qibin Li, Hanjie Wu, Yan Chen, Xu Yang, Shida Zhu, Xun Xu, Huanming Yang, Jian Wang, Xiuqing Zhang, Joseph JY Sung, Yingrui Li, Jun Wang

Cell Res. 2014 Jun; 24(6): 701–712. Published online 2014 Apr 4. doi: 10.1038/cr.2014.43

PMCID:: PMC4042168

Abstract Article PDF–1.7M

Select item 483497014.

K-Cl cotransporters, cell volume homeostasis, and neurological disease

Kristopher T. Kahle, Arjun R. Khanna, Seth L. Alper, Norma C. Adragna, Peter K. Lauf, Dandan Sun, Eric Delpire

Trends Mol Med. Author manuscript; available in PMC 2016 Aug 1.

Published in final edited form as: Trends Mol Med. 2015 Aug; 21(8): 513–523. Published online 2015 Jul 1. doi: 10.1016/j.molmed.2015.05.008

PMCID:: PMC4834970

Abstract Article PDF–694K

Select item 482644015.

The Timing of the Excitatory-to-Inhibitory GABA Switch Is Regulated by the Oxytocin Receptor via KCC2

Marianna Leonzino, Marta Busnelli, Flavia Antonucci, Claudia Verderio, Michele Mazzanti, Bice Chini

Cell Rep. 2016 Apr 5; 15(1): 96–103. Published online 2016 Mar 24. doi: 10.1016/j.celrep.2016.03.013

PMCID:: PMC4826440

Abstract Article

Select item 407416116.

Modeling Glial Contributions to Seizures and Epileptogenesis: Cation-Chloride Cotransporters in Drosophila melanogaster

Zeid M. Rusan, Olivia A. Kingsford, Mark A. Tanouye

PLoS One. 2014; 9(6): e101117. Published online 2014 Jun 27. doi: 10.1371/journal.pone.0101117

Correction in:: PLoS One. 2014; 9(9): e108081.

PMCID:: PMC4074161

Abstract Article PDF–1.3M

Select item 788988517.

The structural basis of function and regulation of neuronal cotransporters NKCC1 and KCC2

Sensen Zhang, Jun Zhou, Yuebin Zhang, Tianya Liu, Perrine Friedel, Wei Zhuo, Suma Somasekharan, Kasturi Roy, Laixing Zhang, Yang Liu, Xianbin Meng, Haiteng Deng, Wenwen Zeng, Guohui Li, Biff Forbush, Maojun Yang

Commun Biol. 2021; 4: 226. Published online 2021 Feb 17. doi: 10.1038/s42003-021-01750-w

PMCID:: PMC7889885

Abstract Article PDF–5.5M

Select item 786576818.

Targeting the WNK-SPAK/OSR1 Pathway and Cation-Chloride Cotransporters for the Therapy of Stroke

Sunday Solomon Josiah, Nur Farah Meor Azlan, Jinwei Zhang

Int J Mol Sci. 2021 Feb; 22(3): 1232. Published online 2021 Jan 27. doi: 10.3390/ijms22031232

PMCID:: PMC7865768

Abstract Article PDF–2.1M

Select item 408191219.

A Novel Regulatory Locus of Phosphorylation in the C Terminus of the Potassium Chloride Cotransporter KCC2 That Interferes with N-Ethylmaleimide or Staurosporine-mediated Activation

Maren Weber, Anna-Maria Hartmann, Timo Beyer, Anne Ripperger, Hans Gerd Nothwang

J Biol Chem. 2014 Jul 4; 289(27): 18668–18679. Published online 2014 May 21. doi: 10.1074/jbc.M114.567834

PMCID:: PMC4081912

Abstract Article PDF–2.5M

Select item 474030520.

Cation Homeostasis in Red Cells From Patients With Sickle Cell Disease Heterologous for HbS and HbC (HbSC Genotype)

A. Hannemann, D.C. Rees, S. Tewari, J.S. Gibson

EBioMedicine. 2015 Nov; 2(11): 1669–1676. Published online 2015 Sep 18. doi: 10.1016/j.ebiom.2015.09.026

PMCID:: PMC4740305

Abstract Article PDF–809K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 500

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity