Results 101 to 110 of about 5,273 (196)

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes? [PDF]

, 2018
PIEZO1 is a large mechanosensitive ion channel protein. Diseases associated with PIEZO1 include autosomal recessive Generalised Lymphatic Dysplasia of Fotiou (GLDF) and autosomal dominant Dehydrated Hereditary Stomatocytosis with or without ...
Albuisson, Ami, Andolfo, Bae, Bellini, Brown, Cahalan, Cha, Chin, Cox, Cummins, Del Orbe Barreto, Entezami, Fotiou, Glogowska, Grootenboer, Grootenboer, Gudipaty, Li, Lukacs, Martins, Miller, Ranade, Rees, Sabine, Syfuss, Wang, Wu, Yang, Zarychanski, Zhu   +30 more
core   +1 more source

Molecular Mechanisms of Chronic Pain and Therapeutic Interventions

MedComm, Volume 6, Issue 8, August 2025.
We offer a comprehensive overview of the distinctive molecular mechanisms underlying nociceptive, neuropathic, and nociplastic pain, including the immune responses, ion channels, monoaminergic imbalance, and neuroinflammation. Subsequently, we summarized the status quo of nociceptive, neuropathic, and nociplastic pain managementmanipulation.
Zhen Li, Xing Li, Jieqiong Liu, Rao Sun, Yingze Ye, Hongbing Xiang, Fang Luo, Shiyong Li, Ailin Luo   +8 more
wiley   +1 more source

Single nucleotide polymorphisms associated with postoperative inadequate analgesia after single-port VATS in Chinese population

BMC Anesthesiology, 2020
Background Postoperative inadequate analgesia following video-assisted thoracoscopic surgery (VATS) is a common and significant clinical problem. While genetic polymorphisms may play role in the variability of postoperative analgesia effect, few studies ...
Xiufang Xing, Yongyu Bai, Kai Sun, Min Yan   +3 more
doaj   +1 more source

Douleur chronique et mécanismes moléculaires [PDF]

, 2011
La douleur est définie par l'International association for the study of pain (IASP) comme une expérience sensorielle et émotionnelle désagréable, associée à une lésion tissulaire réelle ou à une lésion potentielle, ou décrite en des termes évoquant une ...
Schaller, M.
core  

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration

Annals of Clinical and Translational Neurology, Volume 12, Issue 7, Page 1454-1464, July 2025.
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman, Craig Blackstone, Reza Sadjadi   +2 more
wiley   +1 more source

Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis [PDF]

, 2015
To identify protein-altering variants (PAVs) for glioma, we analysed Illumina HumanExome BeadChip exome-array data on 1882 glioma cases and 8079 controls from three independent European populations.
Delattre, J-Y, Fleming, SJ, Galan, P, Gousias, K, Heilmann, S, Herms, S, Houlston, RS, Kamatani, Y, Kinnersley, B, Labussiere, M, Lathrop, M, Mokhtari, K, Noethen, MM, Sanson, M, Schoemaker, MJ, Schramm, J, Simon, M, Swerdlow, A, Wang, Y   +18 more
core   +2 more sources

Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients [PDF]

, 2011
Epilepsy is a clinically and genetically heterogeneous group of disorders. The advent of molecular genetics brings unprecedented advancement in diagnostic molecular pathology and reduces over-reliance on traditional clinical classification.
Chan, AYW, Chan, KY, Chen, SPL, Lam, CW, Law, CY, Mak, CM, Siu, WK, Yau, EKC   +7 more
core  

Vector‐mediated release of GABA attenuates pain‐related behaviors and reduces Na V 1.7 in DRG neurons [PDF]

, 2011
Pain is a common and debilitating accompaniment of neuropathy that occurs as a complication of diabetes. In the current study, we examined the effect of continuous release of gamma amino butyric acid (GABA), achieved by gene transfer of glutamic acid ...
Baron, Black, Castro-Lopes, Castro-Lopes, Chattopadhyay, Chattopadhyay, Coull, Cox, Cummins, David J. Finkl, Devor, Dib-Hajj, Dirig, Drenth, Eaton, Ekberg, Engle, Finnerup, Glorioso, Goss, Goss, Hao, Hao, Hao, Hargreaves, Hong, Hong, Hwang, Ibuki, Jolivalt, Lai, Lee, Liu, Liu, Malcangio, Malcangio, Mantyh, Marina Mata, Mata, Misawa, Moore, Munmun Chattopadhyay, Ong, Randall, Rho, Robinson, Shibuya, Smith, Sukhotinsky, Tavakoli, Wilson-Gerwing, Wolfe, Wolfe, Wolfe, Yang, Zhang   +55 more
core   +1 more source

Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small-fiber neuropathy

Experimental Neurology, 2019
Small-fiber neuropathy (SFN) patients experience a spectrum of sensory abnormalities, including attenuated responses to non-noxious temperatures in combination with a decreased density of the small-nerve fibers. Gain-of-function mutations in the voltage-gated sodium channels SCN9A, SCN10A and SCN11A have been identified as an underlying genetic cause ...
Ivo Eijkenboom, Maurice Sopacua, Auke B.C. Otten, Monique M. Gerrits, Janneke G.J. Hoeijmakers, Stephen G. Waxman, Raffaella Lombardi, Giuseppe Lauria, Ingemar S.J. Merkies, Hubert J.M. Smeets, Catharina G. Faber, Jo M. Vanoevelen   +11 more
openaire   +2 more sources

Congenital Insensitivity to Pain: A Case Report and Review of the Literature

Case Reports in Neurological Medicine, 2014
Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon ...
Leema Reddy Peddareddygari, Kinsi Oberoi, Raji P. Grewal   +2 more
doaj   +1 more source