Results 81 to 90 of about 176,213 (311)

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report

BMC Medical Genetics, 2017
Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene.
Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung   +7 more
doaj   +1 more source

Preliminary study on the function of the POLD1 (CDC2) EXON2 c.56G>A mutation

Molecular Genetics & Genomic Medicine, 2020
Background Fanconi anemia (FA) is a rare recessive disease characterized by DNA damage repair deficiency, and DNA polymerase δ (whose catalytic subunit is encoded by POLD1, also known as CDC2) is closely related to DNA damage repair.
Jing Liu, Yu Liu, Jingxuan Fu, Chengeng Liu, Tingting Yang, Xiaomin Zhang, Min Cao, Peichang Wang   +7 more
doaj   +1 more source

Results of Mann-Whitney test for difference in load among population based on missense mutation and Loss of Function mutation.

, 2023
Results of Mann-Whitney test for difference in load among population based on missense mutation and Loss of Function mutation.
Thibault Leroy (3276063), Ben Koop (3260670), Quentin Rougemont (3249753), Eric B. Rondeau (8726934), Louis Bernatchez (33427)   +4 more
core   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

C-terminal fluorescent labeling impairs functionality of DNA mismatch repair proteins

, 2012
The human DNA mismatch repair (MMR) process is crucial to maintain the integrity of the genome and requires many different proteins which interact perfectly and coordinated.
Hinrichsen, Inga Malena, Stefan Zeuzem, Hinrichsen Inga, Sandra Passmann, Plotz Guido, Adam, Ronja Sophia Mercedes, Plotz, Guido, Zeuzem Stefan, Guido Plotz, Passmann, Sandra, Angela Brieger, Ronja Adam, Brieger, Angela, Inga Hinrichsen, Brieger Angela, Passmann Sandra, Adam Ronja, Zeuzem, Stefan   +17 more
core   +1 more source

Pseudometabolic presentation of dystrophinopathy due to a missense mutation [PDF]

Muscle & Nerve, 2010
AbstractExercise intolerance with myalgia, muscle stiffness, and recurrent rhabdomyolysis due to mutations in the DMD gene can mimic metabolic myopathies leading to delayed or inaccurate diagnoses. In this retrospective chart review, we report 3 unrelated boys with exertional myalgia, muscle stiffness, myoglobinuria, and normal neurological examination
Aravindhan, Veerapandiyan, Vandana, Shashi, Yong-Hui, Jiang, William Brian, Gallentine, Kelly, Schoch, Edward Clinton, Smith   +5 more
openaire   +2 more sources

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Generation of Casp8FL122/123GG Mice Using CRISPR-Cas9 Technology

STAR Protocols, 2020
Summary: The purpose of this protocol is to describe the generation of missense mutations in mice using CRISPR-Cas9 technology. The current protocol focuses on the generation of a Casp8FL122/123GG missense mutation, but it can be adapted to introduce any
Stephane Pelletier, Bart Tummers, Douglas R. Green   +2 more
doaj   +1 more source

A Rare Motor Neuron Deleterious Missense Mutation in the DPYSL3 (CRMP4) Gene is Associated with ALS

, 2013
The dihydropyrimidinase-like 3 (DPYSL3) or Collapsin Response Mediator Protein 4a (CRMP4a) expression is modified in neurodegeneration and is involved in several ALS-associated pathways including axonal transport, glutamate excitotoxicity, and oxidative ...
Blasco, Helene, Andersen, Peter M.,, Augereau, Olivier, Besson, Gerard, Meininger, Vincent, Corcia, Philippe, Andres, Christian R., Guettard, Yves Olivier, Khederchah, Joelle, Camu, William, Antar, Catherine, Gordon, Paul H., Vourc'h, Patrick, Bernard-Marissal, Nathalie, Salachas, Francois, Mouzat, Kevin, Veyrat-Durebex, Charlotte, Sunyach, Claire, Pettmann, Brigitte   +18 more
core   +1 more source