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Items: 1 to 20 of 189

1.
Paroxysmal extreme pain disorder mutations within the D3/S4–S5 linker of Nav1.7 cause moderate destabilization of fast inactivation
Brian W Jarecki, Patrick L Sheets, James O Jackson II, Theodore R Cummins
J Physiol. 2008 Sep 1; 586(Pt 17): 4137–4153. Published online 2008 Jul 3. doi: 10.1113/jphysiol.2008.154906
PMCID:
PMC2652197
AbstractArticlePDF–822K
2.
Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navβ4 peptide-mediated resurgent sodium currents
Jonathan W Theile, Brian W Jarecki, Andrew D Piekarz, Theodore R Cummins
J Physiol. 2011 Feb 1; 589(Pt 3): 597–608. Published online 2010 Nov 29. doi: 10.1113/jphysiol.2010.200915
PMCID:
PMC3055545
AbstractArticlePDF–514K
3.
Paroxysmal extreme pain disorder in family with c.3892G > T (p.Val1298Phe) in the SCN9A gene mutation – case report
Adam Stępień, Daria Sałacińska, Jacek Staszewski, Marta Durka-Kęsy, Jan Dobrogowski
BMC Neurol. 2020; 20: 182. Published online 2020 May 13. doi: 10.1186/s12883-020-01770-9
PMCID:
PMC7218613
AbstractArticlePDF–4.8M
4.
Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder
Ashley Cannon, Svetlana Kurklinsky, Kimberly J. Guthrie, Douglas L. Riegert-Johnson
Case Rep Neurol Med. 2016; 2016: 9212369. Published online 2016 Jul 21. doi: 10.1155/2016/9212369
PMCID:
PMC4972908
AbstractArticlePDF–567K
5.
Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable
Sulayman D Dib-Hajj, Mark Estacion, Brian W Jarecki, Lynda Tyrrell, Tanya Z Fischer, Mark Lawden, Theodore R Cummins, Stephen G Waxman
Mol Pain. 2008; 4: 37. Published online 2008 Sep 19. doi: 10.1186/1744-8069-4-37
PMCID:
PMC2556659
AbstractArticlePDF–1.7M
6.
NaV1.7 Gain-of-Function Mutations as a Continuum: A1632E Displays Physiological Changes Associated with Erythromelalgia and Paroxysmal Extreme Pain Disorder Mutations and Produces Symptoms of Both Disorders
M. Estacion, S. D. Dib-Hajj, P. J. Benke, Rene H. M. te Morsche, E. M. Eastman, L. J. Macala, J. P. H. Drenth, S. G. Waxman
J Neurosci. 2008 Oct 22; 28(43): 11079–11088. doi: 10.1523/JNEUROSCI.3443-08.2008
PMCID:
PMC6671384
AbstractArticlePDF–613K
7.
Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder
Noboru Imai, Noriko Miyake, Yoshiaki Saito, Emiko Kobayashi, Masako Ikawa, Shinya Manaka, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto
J Headache Pain. 2015; 16: 35. Published online 2015 Apr 23. doi: 10.1186/s10194-015-0519-3
PMCID:
PMC4414864
AbstractArticlePDF–2.5M
8.
Four novel PEPD alleles causing prolidase deficiency.
P. Ledoux, C. Scriver, P. Hechtman
Am J Hum Genet. 1994 Jun; 54(6): 1014–1021.
PMCID:
PMC1918181
SummaryPage BrowsePDF–1.5M
9.
Alternative splicing of NaV1.7 exon 5 increases the impact of the painful PEPD mutant channel I1461T
Brian W. Jarecki, Patrick L. Sheets, Yucheng Xiao, James O. Jackson, II, Theodore R. Cummins
Channels (Austin) Author manuscript; available in PMC 2010 Apr 19.
Published in final edited form as: Channels (Austin). 2009 Jul–Aug; 3(4): 259–267. Published online 2009 Jul 23. doi: 10.4161/chan.3.4.9341
PMCID:
PMC2856339
AbstractArticlePDF–2.5M
10.
PepD Participates in the Mycobacterial Stress Response Mediated through MprAB and SigE
Mark J. White, Hongjun He, Renee M. Penoske, Sally S. Twining, Thomas C. Zahrt
J Bacteriol. 2010 Mar; 192(6): 1498–1510. Published online 2010 Jan 8. doi: 10.1128/JB.01167-09
PMCID:
PMC2832534
AbstractArticlePDF–1.4M
11.
MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac
Jing Zou, Zikai Zhao, Guoping Zhang, Qing Zhang, Ilmari Pyykkö
J Otol. 2022 Jul; 17(3): 175–181. Published online 2022 Mar 15. doi: 10.1016/j.joto.2022.03.001
PMCID:
PMC9270563
AbstractArticlePDF–1.4M
12.
A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report
Yi Hua, Di Cui, Lin Han, Lu Xu, Shanshan Mao, Cuiwei Yang, Feng Gao, Zhefeng Yuan
BMC Med Genomics. 2022; 15: 159. Published online 2022 Jul 15. doi: 10.1186/s12920-022-01302-z
PMCID:
PMC9287976
AbstractArticlePDF–1.4M
13.
Purification, crystallization and preliminary X-ray analysis of an aminoacylhistidine dipeptidase (PepD) from Vibrio alginolyticus
Chin-Yuan Chang, Yin-Cheng Hsieh, Ting-Yi Wang, Chun-Jung Chen, Tung-Kung Wu
Acta Crystallogr Sect F Struct Biol Cryst Commun. 2009 Mar 1; 65(Pt 3): 216–218. Published online 2009 Feb 12. doi: 10.1107/S174430910900092X
PMCID:
PMC2650446
AbstractArticlePDF–162K
14.
Incidental pulmonary embolism in CT scans of oncological patients with metastatic disease undergoing clinical trials: frequency and linkage with onset of disease progression (PE-PD association)
Philip Lawson, Stephen Raskin, Shelly Soffer, Edith Marom, Raanan Berger, Marianne Michal Amitai, Tehila Kharizman, Eli Konen, Eyal Klang
Br J Radiol. 2020 Nov 1; 93(1115): 20200591. Published online 2020 Aug 20. doi: 10.1259/bjr.20200591
PMCID:
PMC8519653
AbstractArticlePDF–348K
15.
The HtrA-Like Serine Protease PepD Interacts with and Modulates the Mycobacterium tuberculosis 35-kDa Antigen Outer Envelope Protein
Mark J. White, John P. Savaryn, Daniel J. Bretl, Hongjun He, Renee M. Penoske, Scott S. Terhune, Thomas C. Zahrt
PLoS One. 2011; 6(3): e18175. Published online 2011 Mar 22. doi: 10.1371/journal.pone.0018175
PMCID:
PMC3062566
AbstractArticlePDF–431K
16.
Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing
Natália D. Linhares, Piotr Wilk, Elżbieta Wątor, Meire A. Tostes, Manfred S. Weiss, Sergio D. J. Pena
Genet Mol Biol. 2021; 44(2): e20200393. Published online 2021 Apr 19. doi: 10.1590/1678-4685-GMB-2020-0393
PMCID:
PMC8056889
AbstractArticlePDF–6.8M
17.
Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD Mutations
Désirée Caselli, Rolando Cimaz, Roberta Besio, Antonio Rossi, Ersilia De Lorenzi, Raffaella Colombo, Luca Cantarini, Silvia Riva, Marco Spada, Antonella Forlino, Maurizio Aricò
JIMD Rep. 2012; 3: 71–77. Published online 2011 Sep 27. doi: 10.1007/8904_2011_62
PMCID:
PMC3509862
AbstractArticlePDF–218K
18.
Peptidase D gene (pepD) of Escherichia coli K-12: nucleotide sequence, transcript mapping, and comparison with other peptidase genes.
B Henrich, U Monnerjahn, R Plapp
J Bacteriol. 1990 Aug; 172(8): 4641–4651. doi: 10.1128/jb.172.8.4641-4651.1990
PMCID:
PMC213299
SummaryPage BrowsePDF–2.4M
19.
Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion
Jonathan P. Hintze, Amelia Kirby, Erin Torti, Jacqueline R. Batanian
Mol Syndromol. 2016 May; 7(2): 80–86. Published online 2016 Apr 14. doi: 10.1159/000445397
PMCID:
PMC4906423
AbstractArticlePDF–299K
20.
Regional mapping of human chromosome 19: organization of genes for plasma lipid transport (APOC1, -C2, and -E and LDLR) and the genes C3, PEPD, and GPI.
A J Lusis, C Heinzmann, R S Sparkes, J Scott, T J Knott, R Geller, M C Sparkes, T Mohandas
Proc Natl Acad Sci U S A. 1986 Jun; 83(11): 3929–3933. doi: 10.1073/pnas.83.11.3929
PMCID:
PMC323638
SummaryPage BrowsePDF–1.2M

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