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Literature DB >> 25118027

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.

Christopher Geoffrey Woods¹, Mohamed Osman Eltahir Babiker², Iain Horrocks², John Tolmie³, Ingo Kurth⁴.

Abstract

Entities: Chemical

Mesh：

Substances：

Year: 2014 PMID： 25118027 PMCID： PMC4402639 DOI： 10.1038/ejhg.2014.166

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

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7 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. Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.

Authors: Jianying Huang; Chongyang Han; Mark Estacion; Dymtro Vasylyev; Janneke G J Hoeijmakers; Monique M Gerrits; Lynda Tyrrell; Giuseppe Lauria; Catharina G Faber; Sulayman D Dib-Hajj; Ingemar S J Merkies; Stephen G Waxman
Journal: Brain Date: 2014-04-27 Impact factor: 13.501

3. Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.

Authors: Y P Goldberg; J MacFarlane; M L MacDonald; J Thompson; M-P Dube; M Mattice; R Fraser; C Young; S Hossain; T Pape; B Payne; C Radomski; G Donaldson; E Ives; J Cox; H B Younghusband; R Green; A Duff; E Boltshauser; G A Grinspan; J H Dimon; B G Sibley; G Andria; E Toscano; J Kerdraon; D Bowsher; S N Pimstone; M E Samuels; R Sherrington; M R Hayden
Journal: Clin Genet Date: 2007-04 Impact factor: 4.438

4. The differential diagnosis of congenital analgesia and other diseases with diminished pain perception in childhood. Case report and review.

Authors: W Görke
Journal: Neuropediatrics Date: 1981-02 Impact factor: 1.947

5. 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

6. An SCN9A channelopathy causes congenital inability to experience pain.

Authors: James J Cox; Frank Reimann; Adeline K Nicholas; Gemma Thornton; Emma Roberts; Kelly Springell; Gulshan Karbani; Hussain Jafri; Jovaria Mannan; Yasmin Raashid; Lihadh Al-Gazali; Henan Hamamy; Enza Maria Valente; Shaun Gorman; Richard Williams; Duncan P McHale; John N Wood; Fiona M Gribble; C Geoffrey Woods
Journal: Nature Date: 2006-12-14 Impact factor: 49.962

7. The Nav1.9 channel regulates colonic motility in mice.

Authors: Carine Copel; Nadine Clerc; Nancy Osorio; Patrick Delmas; Bruno Mazet
Journal: Front Neurosci Date: 2013-04-15 Impact factor: 4.677

7 in total

28 in total

Review 1. Protective alleles and modifier variants in human health and disease.

Authors: Andrew R Harper; Shalini Nayee; Eric J Topol
Journal: Nat Rev Genet Date: 2015-10-27 Impact factor: 53.242

Review 2. The physiological function of different voltage-gated sodium channels in pain.

Authors: George Goodwin; Stephen B McMahon
Journal: Nat Rev Neurosci Date: 2021-03-29 Impact factor: 34.870

Review 3. Voltage-gated sodium channels: (Na_V )igating the field to determine their contribution to visceral nociception.

Authors: Andelain Erickson; Annemie Deiteren; Andrea M Harrington; Sonia Garcia-Caraballo; Joel Castro; Ashlee Caldwell; Luke Grundy; Stuart M Brierley
Journal: J Physiol Date: 2018-02-06 Impact factor: 5.182

4. Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability.

Authors: Jianying Huang; Carlos G Vanoye; Alison Cutts; Y Paul Goldberg; Sulayman D Dib-Hajj; Charles J Cohen; Stephen G Waxman; Alfred L George
Journal: J Clin Invest Date: 2017-05-22 Impact factor: 14.808

Review 5. Sodium channels in pain disorders: pathophysiology and prospects for treatment.

Authors: Sulayman D Dib-Hajj; Paul Geha; Stephen G Waxman
Journal: Pain Date: 2017-04 Impact factor: 6.961

6. 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

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.

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

2. Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.

3. Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.

4. The differential diagnosis of congenital analgesia and other diseases with diminished pain perception in childhood. Case report and review.

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

6. An SCN9A channelopathy causes congenital inability to experience pain.

7. The Nav1.9 channel regulates colonic motility in mice.

Review 1. Protective alleles and modifier variants in human health and disease.

Review 2. The physiological function of different voltage-gated sodium channels in pain.

Review 3. Voltage-gated sodium channels: (Na_V )igating the field to determine their contribution to visceral nociception.

4. Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability.

Review 5. Sodium channels in pain disorders: pathophysiology and prospects for treatment.

6. 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.

Review 7. [Sensory and autonomic neuropathies and pain-related channelopathies].

8. A 49-residue sequence motif in the C terminus of Nav1.9 regulates trafficking of the channel to the plasma membrane.

Review 9. The development of somatosensory neurons: Insights into pain and itch.

10. Gastrointestinal Symptoms and Channelopathy-Associated Epilepsy.

Review 1. Protective alleles and modifier variants in human health and disease.

Review 2. The physiological function of different voltage-gated sodium channels in pain.

Review 3. Voltage-gated sodium channels: (NaV )igating the field to determine their contribution to visceral nociception.

Review 5. Sodium channels in pain disorders: pathophysiology and prospects for treatment.

Review 7. [Sensory and autonomic neuropathies and pain-related channelopathies].

Review 9. The development of somatosensory neurons: Insights into pain and itch.

Review 3. Voltage-gated sodium channels: (Na_V )igating the field to determine their contribution to visceral nociception.