Results 101 to 110 of about 2,733 (194)

Gene expression and functional annotation of the human and mouse choroid plexus epithelium [PDF]

, 2013
Background: The choroid plexus epithelium (CPE) is a lobed neuro-epithelial structure that forms the outer blood-brain barrier. The CPE protrudes into the brain ventricles and produces the cerebrospinal fluid (CSF), which is crucial for brain homeostasis.
Bergen, A.A.B. (Arthur), Brink, J.B. (Jacoline) ten, Essing, A.H.W. (Anke), Gorgels, T.G.M.F. (Theo), Jansonius, N.M. (Nomdo), Janssen, S.F. (Sarah), Spek, P.J. (Peter) van der, Spek, S.J.F. (Sophie) van der   +7 more
core   +1 more source

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis

Molecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.
Sengers syndrome, characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis, is caused by mutations in the AGK gene. This study reports the successful diagnosis of Sengers syndrome using comprehensive genomic analysis, identifying both a known pathogenic AGK variant and a previously
Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yoshihito Kishita, Yohei Sugiyama, Takanori Onuki, Tomohiro Ebihara, Tomoko Tsuruoka, Takuya Fushimi, Akira Ohtake, Kei Murayama, Atsuko Imai‐Okazaki, Yasushi Okazaki   +15 more
wiley   +1 more source

MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. [PDF]

, 2001
The subthreshold, voltage-gated potassium channel of skeletal muscle is shown to contain MinK-related peptide 2 (MiRP2) and the pore-forming subunit Kv3.4.
Abbott, GW, Bendahhou, S, Butler, MH, Dalakas, MC, Goldstein, SA, Ptacek, LJ   +5 more
core  

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core   +1 more source

First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

The Application of Clinical Genetics, 2021
Jorge Andres Olave-Rodriguez,1 Francisco Javier Bonilla-Escobar,2– 4 Estephania Candelo,5,6 Lisa Ximena Rodriguez-Rojas1,7 1Universidad Icesi, Faculty of Health Sciences, Cali, Colombia; 2Somos Ciencia al Servicio de la Comunidad, Fundación SCISCO ...
Olave-Rodriguez JA, Bonilla-Escobar FJ, Candelo E, Rodriguez-Rojas LX   +3 more
doaj  

Ion channel expression in human melanoma samples. in silico identification and experimental validation of molecular targets [PDF]

, 2019
Expression of 328 ion channel genes was investigated, by in silico analysis, in 170 human melanoma samples and controls. Ninety-one members of this gene-family (i.e., about 28%) show a significant (p 0.90 and p 90% in most cases).
D’Arcangelo, Daniela, Facchiano, Antonio, Facchiano, Francesco, Giampietri, Claudia, Marchetti, Paolo, Scatozza, Francesca   +5 more
core   +1 more source

RNA mis‐splicing in children with congenital myotonic dystrophy is associated with physical function

Annals of Clinical and Translational Neurology, Volume 11, Issue 12, Page 3175-3191, December 2024.
Abstract Objectives Dysregulated RNA alternative splicing is the hallmark of myotonic dystrophy type 1 (DM1). However, the association between RNA mis‐splicing and physical function in children with the most severe form of disease, congenital myotonic dystrophy (CDM), is unknown.
Julia M. Hartman, Kobe Ikegami, Marina Provenzano, Kameron Bates, Amanda Butler, Aileen S. Jones, Kiera N. Berggren, Jeanne Dekdebrun, Marnee J. McKay, Jennifer N. Baldwin, Kayla M. D. Cornett, Joshua Burns, Michael Kiefer, Nicholas E. Johnson, Melissa A. Hale, on behalf of the DMCRN Consortium   +15 more
wiley   +1 more source

Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis. [PDF]

, 2006
MinK-related peptide 2 (MiRP2) and Kv3.4 subunits assemble in skeletal muscle to create subthreshold, voltage-gated potassium channels. MiRP2 acts on Kv3.4 to shift the voltage dependence of activation, speed recovery from inactivation, suppress ...
Abbott, Geoffrey W, Butler, Margaret H, Goldstein, Steve AN   +2 more
core   +1 more source

Mécanismes et conséquences des mutations [PDF]

, 2005
L’identification des mutations à l’origine de maladies génétiques chez l’homme a pris ces dernières années un essor considérable. Il est devenu possible d’établir le spectre des mutations délétères pour une maladie génétique donnée, et des bases de ...
Hanna, Nadine, Parfait, Béatrice, Vidaud, Dominique, Vidaud, Michel   +3 more
core   +1 more source

Structure of the CLC-1 chloride channel from Homo sapiens. [PDF]

, 2018
CLC channels mediate passive Cl- conduction, while CLC transporters mediate active Cl- transport coupled to H+ transport in the opposite direction. The distinction between CLC-0/1/2 channels and CLC transporters seems undetectable by amino acid sequence.
MacKinnon, Roderick, Park, Eunyong
core   +2 more sources