Results 91 to 100 of about 1,941 (169)

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

Voltage‐gated sodium channels in genetic epilepsy: up and down of excitability

Journal of Neurochemistry, Volume 168, Issue 12, Page 3872-3890, December 2024.
Genetic variants of NaV1.1 (SCN1A), NaV1.2 (SCN2A), NaV1.3 (SCN3A), and NaV1.6 (SCN8A) sodium channels are involved in a broad spectrum of diseases, including several types of epilepsy. In this review, we describe the functional effect of variants of NaV and their interacting proteins, and their correlation to different phenotypes.
Evgeniia Rusina, Martina Simonti, Fabrice Duprat, Sandrine Cestèle, Massimo Mantegazza   +4 more
wiley   +1 more source

The complex genetics of gait speed:Genome-wide meta-analysis approach [PDF]

, 2017
Emerging evidence suggests that the basis for variation in late-life mobility is attributable, in part, to genetic factors, which may become increasingly important with age. Our objective was to systematically assess the contribution of genetic variation
Adams, Hieab H.,, Arfan Ikram, M.,, Arnold, Alice M,, Atzmon, Gil,, Bandinelli, Stefania,, Beekman, Marian,, Ben-Avraham, Dan,, Bennett, David A,, Buchman, Aron S,, Callisaya, Michele L.,, Corley, Janie,, Cummings, Steven R,, Davies, Gail,, De Jager, Philip L,, Deary, Ian J,, Deelen, Joris,, Eicher, John D.,, Evans, Daniel S,, Evans, Denis A,, Faul, Jessica D,, Ferrucci, Luigi,, Fornage, Myriam,, Gudnason, Vilmundur,, Gutman, Danielle,, Harris, Tamara B.,, Hernandez, Dena,, Hofman, Albert,, Houwing-Duistermaat, Jeanine J,, Johnson, Andrew D,, Karasik, David,, Kardia, Sharon L.,, Karlsson, Magnus,, Kiel, Douglas P,, Knopman, Davis S.,, Launer, Lenore J.,, Liewald, David C M,, Liu, Yongmei,, Lund University., Lund University., Lunetta, Kathryn L,, Matteini, Amy M.,, McWhirter, Rebekah,, Mellström, Dan,, Moed, Matthijs,, Mooijaart, Simon P,, Mosley, Thomas H.,, Murabito, Joanne M.,, Nethander, Maria,, Newman, Ann B.,, Ohlsson, Claes,, Parimi, Neeta,, Pattie, Alison,, Sharvit, Lital,, Slagboom, P. Eline,, Smith, Albert V,, Smith, Jennifer A,, Srikanth, Velandai K.,, Starr, John M,, Tanaka, Toshiko,, Thomson, Russell,, Tranah, Gregory J,, Turner, Stephen T.,, Uitterlinden, Andre G.,, van der Geest, Jos N.,, Vered, Rotem,, Verghese, Joe,, Verlinden, Vincent J.,, Walston, Jeremy D.,, Weir, David R,, Windham, Beverly G.,, Yu, Lei,, Zhao, Wei,   +71 more
core   +4 more sources

Understanding the genetic basis of congenital insensitivity to pain

British Medical Bulletin, 2020
Introduction or background Congenital insensitivity to pain (CIP) is caused by extremely rare Mendelian genetic disorders. CIP individuals demonstrate the unexpectedly severe consequences of painlessness.
I. Drissi, W. A. Woods, C. Woods
semanticscholar   +1 more source

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard, Lindsay V. Clark, Erdal Cosgun, Kimberly A. Aldinger, Andrew Timms, Lely A. Quina, Juan M. Lavista Ferres, David Jardine, Elisabeth A. Haas, Tatiana M. Becker, Chelsea M. Pagan, Avni Santani, Diego Martinez, Soumitra Barua, Zakkary McNutt, Addie Nesbitt, Edwin A. Mitchell, Jan‐Marino Ramirez   +17 more
wiley   +1 more source

Conservation of alternative splicing in sodium channels reveals evolutionary focus on release from inactivation and structural insights into gating [PDF]

, 2017
Voltage-gated sodium channels are critical for neuronal activity, and highly intolerant to variation. Even mutations that cause subtle changes in the activity these channels are sufficient to cause devastating inherited neurological diseases, such as ...
Liavas, A, Lignani, G, Schorge, S
core   +1 more source

A Novel Antigen Design Strategy to Isolate Single‐Domain Antibodies that Target Human Nav1.7 and Reduce Pain in Animal Models

Advanced Science, Volume 11, Issue 40, October 28, 2024.
An innovative antigen presentation strategy is used to isolate a single domain antibody (VHH) against the human voltage‐gated sodium channel 1.7 (hNav1.7) channel, from a phage‐displayed naïve VHH library generated from llama, alpaca and camel.
Marzia Martina, Umberto Banderali, Alvaro Yogi, Mehdi Arbabi Ghahroudi, Hong Liu, Traian Sulea, Yves Durocher, Greg Hussack, Henk van Faassen, Balu Chakravarty, Qing Yan Liu, Umar Iqbal, Binbing Ling, Etienne Lessard, Joey Sheff, Anna Robotham, Debbie Callaghan, Maria Moreno, Tanya Comas, Dao Ly, Danica Stanimirovic   +20 more
wiley   +1 more source

小児四肢疼痛発作症の家系において新規に同定されたNav1.9遺伝子変異 [PDF]

京都大学新制・論文博士博士(医学)乙第13583号論医博第2303号新制||医||1070(附属図書館)京都大学大学院医学研究科医学専攻(主査)教授 滝田 順子, 教授 小川 誠司, 教授 松田 文彦学位規則第4条第2項該当Doctor of Medical ScienceKyoto ...
Kabata, Risako
core   +1 more source

Bioinformatic approaches to determine pathogenicity and function of clinical genetic variants across ion channels and neurodevelopmental disorder associated genes [PDF]

, 2023
Clinical genetic testing for rare monogenic diseases has the scope of identifying the disease-causing variants. Identification of the molecular etiology of the disease can already today improve clinical care and is essential for the administration of ...
Brünger, Tobias
core  

Cellular reprogramming [PDF]

, 2009
DNA-methylatie is een epigenetische modificatie. Dit type van modificaties verandert de genetische informatie zelf niet, maar wijzigt de laag erboven. Er worden chemische modificaties toegevoegd of gewijzigd op het DNA of de histonen (waarrond het DNA ...
Ongenaert, Maté
core   +1 more source