Results 1 to 10 of about 1,941 (169)

The Gain-of-Function R222S Variant in Scn11a Contributes to Visceral Hyperalgesia and Intestinal Dysmotility in Scn11aR222S/R222S Mice [PDF]

Frontiers in Neurology, 2022
BackgroundThe SCN11A gene encodes the α-subunit of the Nav1. 9 channel, which is a regulator of primary sensory neuron excitability. Nav1.9 channels play a key role in somatalgia. Humans with the gain-of-function mutation R222S in SCN11A exhibit familial
Chenyu Zhao, Chenyu Zhao, Jishuo Jin, Jishuo Jin, Haoye Hu, Xi Zhou, Xiaoliu Shi   +6 more
doaj   +5 more sources

Elevated SCN11A concentrations associated with lower serum lipid levels in patients with major depressive disorder [PDF]

Translational Psychiatry
The pathogenesis of major depressive disorder (MDD) involves lipid metabolism. Our earlier research also revealed that MDD patients had much lower total cholesterol (TC) concentrations than healthy controls (HCs).
Ke Xu, Shuang Zhao, Yi Ren, Qi Zhong, Jinzhou Feng, Dianji Tu, Wentao Wu, Jiaolin Wang, Jianjun Chen, Peng Xie   +9 more
doaj   +5 more sources

Gain-of-function mutation in SCN11A causes itch and affects neurogenic inflammation and muscle function in Scn11a+/L799P mice.

PLoS ONE, 2020
Mutations in the genes encoding for voltage-gated sodium channels cause profound sensory disturbances and other symptoms dependent on the distribution of a particular channel subtype in different organs.
Matthias Ebbinghaus, Lorena Tuchscherr, Gisela Segond von Banchet, Lutz Liebmann, Volker Adams, Mieczyslaw Gajda, Christian A Hübner, Ingo Kurth, Hans-Georg Schaible   +8 more
doaj   +6 more sources

SCN11A gene deletion causes sensorineural hearing loss by impairing the ribbon synapses and auditory nerves [PDF]

BMC Neuroscience, 2021
Background The SCN11A gene, encoded Nav1.9 TTX resistant sodium channels, is a main effector in peripheral inflammation related pain in nociceptive neurons. The role of SCN11A gene in the auditory system has not been well characterized.
Mian Zu, Wei-Wei Guo, Tao Cong, Fei Ji, Shi-Li Zhang, Yue Zhang, Xin Song, Wei Sun, David Z. Z. He, Wei-Guo Shi, Shi-Ming Yang   +10 more
doaj   +4 more sources

Congenital Insensitivity to Pain due to a de novo L369P mutation in the SCN11A gene with Heterotrophic Ossification - A Case Report. [PDF]

J Orthop Case Rep, 2023
Introduction: A male child with congenital insensitivity to pain (CIP) due to a novel de novo L369P mutation in the SCN11A gene was found to have significant bilateral hip flexion contractures, followed by severe heterotopic ossification after ...
Makar G, Kahlon S, Seeley M.
europepmc   +4 more sources

Clinical characteristics and genetic analysis of pediatric patients with sodium channel gene mutation-related childhood epilepsy: a review of 94 patients [PDF]

Frontiers in Neurology, 2023
ObjectiveThis study aimed to examine the clinical and gene-mutation characteristics of pediatric patients with sodium channel gene mutation-related childhood epilepsy and to provide a basis for precision treatment and genetic counseling.MethodsThe ...
Hongjun Fang, Wenjing Hu, Qingyun Kang, Xiaojun Kuang, Lijuan Wang, Xiao Zhang, Hongmei Liao, Liming Yang, Haiyan Yang, Zhi Jiang, Liwen Wu   +10 more
doaj   +3 more sources

Transformer-based deep learning enhances discovery in migraine GWAS [PDF]

Nature Communications
Migraine is a complex neurological disorder with substantial heritability, yet genome-wide association studies (GWAS) have explained only a fraction of its genetic component.
Ziang Meng, Yingchao Song, Yue Jiang, Xianjin Wang, Yang Zou, Xingyuan Li, Hakon Hakonarson, Xiao Chang   +7 more
doaj   +3 more sources

Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura. [PDF]

Nat Genet, 2023
Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine
Bjornsdottir G, Chalmer MA, Stefansdottir L, Skuladottir AT, Einarsson G, Andresdottir M, Beyter D, Ferkingstad E, Gretarsdottir S, Halldorsson BV, Halldorsson GH, Helgadottir A, Helgason H, Hjorleifsson Eldjarn G, Jonasdottir A, Jonasdottir A, Jonsdottir I, Knowlton KU, Nadauld LD, Lund SH, Magnusson OT, Melsted P, Moore KHS, Oddsson A, Olason PI, Sigurdsson A, Stefansson OA, Saemundsdottir J, Sveinbjornsson G, Tragante V, Unnsteinsdottir U, Walters GB, Zink F, Rødevand L, Andreassen OA, Igland J, Lie RT, Haavik J, Banasik K, Brunak S, Didriksen M, T Bruun M, Erikstrup C, Kogelman LJA, Nielsen KR, Sørensen E, Pedersen OB, Ullum H, DBDS Genetic Consortium, Masson G, Thorsteinsdottir U, Olesen J, Ludvigsson P, Thorarensen O, Bjornsdottir A, Sigurdardottir GR, Sveinsson OA, Ostrowski SR, Holm H, Gudbjartsson DF, Thorleifsson G, Sulem P, Stefansson H, Thorgeirsson TE, Hansen TF, Stefansson K.   +65 more
europepmc   +8 more sources

Combining machine learning and molecular docking to unravel the molecular network of bladder cancer induced by 2-naphthylamine [PDF]

Discover Oncology
Objective Bladder cancer (BLCA) is among the most common malignant tumors found in the urinary tract. However, the carcinogenic mechanism of 2-Naphthylamine (2-NA), a class I carcinogen with a well-established association with BLCA, remains inadequately ...
Ruize Qin, Cheng Li, Changxue Liu, Chengquan Shen, Ding Hu, Xinzhao Zhao, Huaixi Ge, Jianhang Zhu, Yonghua Wang   +8 more
doaj   +3 more sources

The influence of Nav1.9 channels on intestinal hyperpathia and dysmotility [PDF]

Channels, 2023
The Nav1.9 channel is a voltage-gated sodium channel. It plays a vital role in the generation of pain and the formation of neuronal hyperexcitability after inflammation. It is highly expressed in small diameter neurons of dorsal root ganglions and Dogiel
Chenyu Zhao, Xi Zhou, Xiaoliu Shi
doaj   +2 more sources