PMC Articles for MedGen (Select 348506) - PMC

Andreas Brunklaus, Tony Feng, Tobias Brünger, Eduardo Perez-Palma, Henrike Heyne, Emma Matthews, Christopher Semsarian, Joseph D Symonds, Sameer M Zuberi, Dennis Lal, Stephanie Schorge

Brain. 2022 Dec; 145(12): 4275–4286. Published online 2022 Jan 17. doi: 10.1093/brain/awac006

PMCID:: PMC9897196

Abstract Article PDF–1.2M

Select item 22702154.

A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro

Alexi K Alekov, Md Masmudur Rahman, Nenad Mitrovic, Frank Lehmann-Horn, Holger Lerche

J Physiol. 2000 Dec 15; 529(Pt 3): 533–539. doi: 10.1111/j.1469-7793.2000.00533.x

PMCID:: PMC2270215

Abstract Article PDF–190K

Select item 28681755.

Loss-of-function mutation of the SCN3B-encoded sodium channel β3 subunit associated with a case of idiopathic ventricular fibrillation

Carmen R. Valdivia, Argelia Medeiros-Domingo, Bin Ye, Win-Kuang Shen, Timothy J. Algiers, Michael J. Ackerman, Jonathan C. Makielski

Cardiovasc Res. 2010 Jun 1; 86(3): 392–400. Published online 2009 Dec 30. doi: 10.1093/cvr/cvp417

PMCID:: PMC2868175

Abstract Article PDF–465K

Select item 72168836.

Focal and generalized seizure activity after local hippocampal or cortical ablation of Na_V1.1 channels in mice

Nico A. Jansen, Anisa Dehghani, Cor Breukel, Else A. Tolner, Arn M. J. M. van den Maagdenberg

Epilepsia. 2020 Apr; 61(4): e30–e36. Published online 2020 Mar 19. doi: 10.1111/epi.16482

PMCID:: PMC7216883

Abstract Article PDF–1.1M

Select item 65559477.

Functional characteristics of circulating granulocytes in severe congenital neutropenia caused by ELANE mutations

Qiao Liu, Martina Sundqvist, Wenyan Li, André Holdfeldt, Liang Zhang, Lena Björkman, Johan Bylund, Claes Dahlgren, Cai Wang, Xiaodong Zhao, Huamei Forsman

BMC Pediatr. 2019; 19: 189. Published online 2019 Jun 8. doi: 10.1186/s12887-019-1556-x

PMCID:: PMC6555947

Abstract Article PDF–4.7M

Select item 60755368.

Clemizole and modulators of serotonin signalling suppress seizures in Dravet syndrome

Aliesha Griffin, Kyla R. Hamling, Kelly Knupp, SoonGweon Hong, Luke P. Lee, Scott C. Baraban

Brain. 2017 Mar; 140(3): 669–683. Published online 2017 Jan 10. doi: 10.1093/brain/aww342

PMCID:: PMC6075536

Abstract Article PDF–1.6M

Select item 59943969.

Preclinical Animal Models for Dravet Syndrome: Seizure Phenotypes, Comorbidities and Drug Screening

Aliesha Griffin, Kyla R. Hamling, SoonGweon Hong, Mana Anvar, Luke P. Lee, Scott C. Baraban

Front Pharmacol. 2018; 9: 573. Published online 2018 Jun 4. doi: 10.3389/fphar.2018.00573

PMCID:: PMC5994396

Abstract Article PDF–2.6M

Select item 1100681510.

Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia

Xin Meng, Hai Zhang, Lulu Dong, Qing Min, Meiping Yu, Yaxuan Li, Lipin Liu, Wenjie Wang, Wenjing Ying, Jinqiao Sun, Ji-Yang Wang, Jia Hou, Xiaochuan Wang

Blood Adv. 2024 Apr 9; 8(7): 1667–1682. Published online 2024 Jan 30. doi: 10.1182/bloodadvances.2023012171

PMCID:: PMC11006815

Abstract Article PDF–1.8M

Select item 629643611.

Role of mitochondrial cyanide detoxification in Arabidopsis root hair development

Lucía Arenas-Alfonseca, Cecilia Gotor, Luis C. Romero, Irene García

Plant Signal Behav. 2018; 13(12): e1537699. Published online 2018 Oct 31. doi: 10.1080/15592324.2018.1537699

PMCID:: PMC6296436

Abstract Article PDF–703K

Select item 855405712.

Genetic and Molecular Analysis of Root Hair Development in Arabis alpina

Mona Mapar, Divykriti Chopra, Lisa Stephan, Andrea Schrader, Hequan Sun, Korbinian Schneeberger, Maria Albani, George Coupland, Martin Hülskamp

Front Plant Sci. 2021; 12: 767772. Published online 2021 Oct 15. doi: 10.3389/fpls.2021.767772

PMCID:: PMC8554057

Abstract Article PDF–5.8M

Select item 1083930013.

Fenfluramine increases survival and reduces markers of neurodegeneration in a mouse model of Dravet syndrome

John Cha, Gregory Filatov, Steven J. Smith, Arnold R. Gammaitoni, Amélie Lothe, Thadd Reeder

Epilepsia Open. 2024 Feb; 9(1): 300–313. Published online 2023 Dec 22. doi: 10.1002/epi4.12873

PMCID:: PMC10839300

Abstract Article PDF–14M

Select item 653670014.

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Christine Bellanné-Chantelot, Barbara Schmaltz-Panneau, Caroline Marty, Odile Fenneteau, Isabelle Callebaut, Séverine Clauin, Aurélie Docet, Gandhi-Laurent Damaj, Thierry Leblanc, Isabelle Pellier, Cécile Stoven, Sylvie Souquere, Iléana Antony-Debré, Blandine Beaupain, Nathalie Aladjidi, Vincent Barlogis, Frédéric Bauduer, Philippe Bensaid, Odile Boespflug-Tanguy, Claire Berger, Yves Bertrand, Liana Carausu, Claire Fieschi, Claire Galambrun, Aline Schmidt, Hubert Journel, Françoise Mazingue, Brigitte Nelken, Thuan Chong Quah, Eric Oksenhendler, Marie Ouachée, Marlène Pasquet, Véronique Saada, Felipe Suarez, Gérard Pierron, William Vainchenker, Isabelle Plo, Jean Donadieu

Blood. 2018 Sep 20; 132(12): 1318–1331. Prepublished online 2018 Jun 18. doi: 10.1182/blood-2017-12-820308

PMCID:: PMC6536700

Abstract Article

Select item 724142415.

Family Studies of WHIM Syndrome

David C. Dale, Emily Dick, Merideth Kelley, Vahagn Makaryan, Jim Connelly, Audrey Anna Bolyard

Curr Opin Hematol. Author manuscript; available in PMC 2021 Jan 1.

Published in final edited form as: Curr Opin Hematol. 2020 Jan; 27(1): 11–17. doi: 10.1097/MOH.0000000000000554

PMCID:: PMC7241424

Abstract Article PDF–212K

Select item 799492416.

SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing

Christoph Schürch, Thorsten Schaefer, Joëlle S. Müller, Pauline Hanns, Marlon Arnone, Alain Dumlin, Jonas Schärer, Irmgard Sinning, Klemens Wild, Julia Skokowa, Karl Welte, Raphael Carapito, Seiamak Bahram, Martina Konantz, Claudia Lengerke

Blood. 2021 Mar 11; 137(10): 1340–1352. Prepublished online 2020 Nov 23. doi: 10.1182/blood.2020008115

PMCID:: PMC7994924

Abstract Article

Select item 582146817.

Severe congenital neutropenias

Julia Skokowa, David C. Dale, Ivo P. Touw, Cornelia Zeidler, Karl Welte

Nat Rev Dis Primers. Author manuscript; available in PMC 2018 Feb 21.

Published in final edited form as: Nat Rev Dis Primers. 2017 Jun 8; 3: 17032. Published online 2017 Jun 8. doi: 10.1038/nrdp.2017.32

PMCID:: PMC5821468

Abstract Article PDF–1.3M

Select item 405552218.

TCIRG1 associated Congenital Neutropenia

Vahagn Makaryan, Elisabeth A. Rosenthal, Audrey Anna Bolyard, Merideth L. Kelley, Jennifer E. Below, Michael J. Bamshad, Kathryn M. Bofferding, Joshua D. Smith, Kati Buckingham, Laurence A. Boxer, Julia Skokowa, Karl Welte, Deborah A. Nickerson, Gail P. Jarvik, David C. Dale, for the UW Center for Mendelian Genomics

Hum Mutat. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Hum Mutat. 2014 Jul; 35(7): 824–827. Published online 2014 May 21. doi: 10.1002/humu.22563