Literature DB >> 27747863

Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan.

H A Sawal1,2, R Harripaul1,3, A Mikhailov1, R Dad2, M Ayub4, M Jawad Hassan2, J B Vincent1,3,5.   

Abstract

(a) Homozygosity-mapping-by-descent of four Bhakkar congenital indifference/insensitivity to pain (CIP) families. (b) Identification of mutation Met1190* in SCN9A. (c) SCN9A/NaV1.7 2D structure (as predicted by CCTOP and SMART) and approximate position of known nonsense (*) and missense (M) mutations ( www.hgmd.cf.ac.uk), as well as the Bhakkar mutation (this study) in red.
© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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Year:  2016        PMID： 27747863     DOI： 10.1111/cge.12860

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  4 in total

1.  A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.

Authors:  Stephen Pastore; Ricardo Harripaul; Matloob Azam; John B Vincent
Journal:  J Hum Genet       Date:  2020-03-03       Impact factor: 3.172

2.  MicroRNA-182 Alleviates Neuropathic Pain by Regulating Nav1.7 Following Spared Nerve Injury in Rats.

Authors:  Weihua Cai; Qingzan Zhao; Jinping Shao; Jingjing Zhang; Lei Li; Xiuhua Ren; Songxue Su; Qian Bai; Ming Li; Xuemei Chen; Jian Wang; Jing Cao; Weidong Zang
Journal:  Sci Rep       Date:  2018-11-13       Impact factor: 4.379

Review 3.  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

4.  Population Study of Hand and Wrist Manifestations of Congenital Insensitivity to Pain.

Authors:  Michelle Spiteri; Maximillian Mifsud; Thomas Azzopardi; Henk Giele
Journal:  Hand (N Y)       Date:  2020-03-06
  4 in total

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