Literature DB >> 28289907

Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot.

Margaret K King1,2, Enrico Leipold3, Jessica M Goehringer4, Ingo Kurth5, Thomas D Challman4.   

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Year:  2017        PMID： 28289907     DOI： 10.1007/s10048-017-0513-9

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  6 in total

1.  Gain-of-function mutations in SCN11A cause familial episodic pain.

Authors:  Xiang Yang Zhang; Jingmin Wen; Wei Yang; Cheng Wang; Luna Gao; Liang Hong Zheng; Tao Wang; Kaikai Ran; Yulei Li; Xiangyang Li; Ming Xu; Junyu Luo; Shenglei Feng; Xixiang Ma; Hongying Ma; Zuying Chai; Zhuan Zhou; Jing Yao; Xue Zhang; Jing Yu Liu
Journal:  Am J Hum Genet       Date:  2013-10-24       Impact factor: 11.025

2.  Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

Authors:  Voraluck Phatarakijnirund; Steven Mumm; William H McAlister; Deborah V Novack; Deborah Wenkert; Karen L Clements; Michael P Whyte
Journal:  Bone       Date:  2015-12-31       Impact factor: 4.398

Review 3.  NaV1.9: a sodium channel linked to human pain.

Authors:  Sulayman D Dib-Hajj; Joel A Black; Stephen G Waxman
Journal:  Nat Rev Neurosci       Date:  2015-08-05       Impact factor: 34.870

4.  A de novo gain-of-function mutation in SCN11A causes loss of pain perception.

Authors:  Enrico Leipold; Lutz Liebmann; G Christoph Korenke; Theresa Heinrich; Sebastian Giesselmann; Jonathan Baets; Matthias Ebbinghaus; R Oliver Goral; Tommy Stödberg; J Christopher Hennings; Markus Bergmann; Janine Altmüller; Holger Thiele; Andrea Wetzel; Peter Nürnberg; Vincent Timmerman; Peter De Jonghe; Robert Blum; Hans-Georg Schaible; Joachim Weis; Stefan H Heinemann; Christian A Hübner; Ingo Kurth
Journal:  Nat Genet       Date:  2013-09-15       Impact factor: 38.330

Review 5.  Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use.

Authors:  Stephen G Waxman; Ingemar S J Merkies; Monique M Gerrits; Sulayman D Dib-Hajj; Giuseppe Lauria; James J Cox; John N Wood; C Geoffrey Woods; Joost P H Drenth; Catharina G Faber
Journal:  Lancet Neurol       Date:  2014-11       Impact factor: 44.182

6.  Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.

Authors:  Enrico Leipold; Andrea Hanson-Kahn; Miya Frick; Ping Gong; Jonathan A Bernstein; Martin Voigt; Istvan Katona; R Oliver Goral; Janine Altmüller; Peter Nürnberg; Joachim Weis; Christian A Hübner; Stefan H Heinemann; Ingo Kurth
Journal:  Nat Commun       Date:  2015-12-08       Impact factor: 14.919
  6 in total
  9 in total

Review 1.  Genetic pain loss disorders.

Authors:  Annette Lischka; Petra Lassuthova; Arman Çakar; Christopher J Record; Jonas Van Lent; Jonathan Baets; Maike F Dohrn; Jan Senderek; Angelika Lampert; David L Bennett; John N Wood; Vincent Timmerman; Thorsten Hornemann; Michaela Auer-Grumbach; Yesim Parman; Christian A Hübner; Miriam Elbracht; Katja Eggermann; C Geoffrey Woods; James J Cox; Mary M Reilly; Ingo Kurth
Journal:  Nat Rev Dis Primers       Date:  2022-06-16       Impact factor: 65.038

2.  The Gain-of-Function R222S Variant in Scn11a Contributes to Visceral Hyperalgesia and Intestinal Dysmotility in Scn11a R222S/R222S Mice.

Authors:  Chenyu Zhao; Jishuo Jin; Haoye Hu; Xi Zhou; Xiaoliu Shi
Journal:  Front Neurol       Date:  2022-05-27       Impact factor: 4.086

3.  Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.

Authors:  Jose-Alberto Palma; Rachita Yadav; Dadi Gao; Lucy Norcliffe-Kaufmann; Susan Slaugenhaupt; Horacio Kaufmann
Journal:  Neurol Genet       Date:  2021-03-03

4.  Familial episodic limb pain in kindreds with novel Nav1.9 mutations.

Authors:  Risako Kabata; Hiroko Okuda; Atsuko Noguchi; Daiki Kondo; Michimasa Fujiwara; Kenichiro Hata; Yoshifumi Kato; Ken Ishikawa; Manabu Tanaka; Yuji Sekine; Nozomi Hishikawa; Tomoyuki Mizukami; Junichi Ito; Manami Akasaka; Ken Sakurai; Takeshi Yoshida; Hironori Minoura; Takashi Hayashi; Kohei Inoshita; Misayo Matsuyama; Noriko Kinjo; Yang Cao; Sumiko Inoue; Hatasu Kobayashi; Kouji H Harada; Shohab Youssefian; Tsutomu Takahashi; Akio Koizumi
Journal:  PLoS One       Date:  2018-12-17       Impact factor: 3.240

Review 5.  The NaV1.7 Channel Subtype as an Antinociceptive Target for Spider Toxins in Adult Dorsal Root Ganglia Neurons.

Authors:  Tânia C Gonçalves; Evelyne Benoit; Michel Partiseti; Denis Servent
Journal:  Front Pharmacol       Date:  2018-09-04       Impact factor: 5.810

Review 6.  Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.

Authors:  Mark D Baker; Mohammed A Nassar
Journal:  Pflugers Arch       Date:  2020-06-29       Impact factor: 3.657

7.  Familial episodic pain syndrome: a case report and literature review.

Authors:  Pingping Zhang; Feng Xiao; Xiaofeng Li; Ying Liang; Huan Yi; Minghui Hou; Yikun Mou; Zhuanggui Chen
Journal:  Ann Transl Med       Date:  2022-02

Review 8.  Understanding the genetic basis of congenital insensitivity to pain.

Authors:  Ichrak Drissi; William Aidan Woods; Christopher Geoffrey Woods
Journal:  Br Med Bull       Date:  2020-05-15       Impact factor: 4.291

9.  Mechanical allodynia triggered by cold exposure in mice with the Scn11a p.R222S mutation: a novel model of drug therapy for neuropathic pain related to NaV1.9.

Authors:  Yosuke Matsubara; Hiroko Okuda; Kouji H Harada; Shohab Youssefian; Akio Koizumi
Journal:  Naunyn Schmiedebergs Arch Pharmacol       Date:  2020-09-24       Impact factor: 3.000
  9 in total

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