Results 111 to 120 of about 184,862 (303)

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

Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content [PDF]

, 2011
Dynamic expansions of toxic polyglutamine (polyQ)-encoding CAG repeats in ubiquitously expressed, but otherwise unrelated, genes cause a number of late-onset progressive neurodegenerative disorders, including Huntington disease and the spinocerebellar ...
Darren G. Monckton, Monckton, Darren G,, Monckton, D.G., Colm E. Nestor, Nestor, C.E., Nestor, Colm,, Darren G Monckton, Colm E Nestor   +7 more
core   +1 more source

CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination.

PLoS Genetics, 2008
At least 25 inherited disorders in humans result from microsatellite repeat expansion. Dramatic variation in repeat instability occurs at different disease loci and between different tissues; however, cis-elements and trans-factors regulating the ...
Randell T Libby, Katharine A Hagerman, Victor V Pineda, Rachel Lau, Diane H Cho, Sandy L Baccam, Michelle M Axford, John D Cleary, James M Moore, Bryce L Sopher, Stephen J Tapscott, Galina N Filippova, Christopher E Pearson, Albert R La Spada   +13 more
doaj   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Genomic Instability in Cancer: Teetering on the Limit of Tolerance

, 2017
Cancer genomic instability contributes to the phenomenon of intratumoral genetic heterogeneity, provides the genetic diversity required for natural selection, and enables the extensive phenotypic diversity that is frequently observed among patients ...
Carlo C. Maley, Hanlee P. Ji, Noemi Andor   +2 more
core   +1 more source

Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang, Dongxu Zhang, Dongyuan Liu, Da Lin, Hao Wang   +4 more
wiley   +1 more source

Prostate Cancer Cell Line Genomic Instability Scores.

, 2016
Prostate Cancer Cell Line Genomic Instability Scores.
Laura J. Leitz (3350075), Shannon L. Werner (3350087), Shidong Jia (3350105), Eric K. Tucker (3350081), Premal Patel (3350090), Liangxuan Zhang (3350102), Michael Malchiodi (3350093), Yipeng Wang (9800), Stephanie B. Greene (460558), Ryon P. Graf (3350084), Dena Marrinucci (40175), Steven Gendreau (3350078), Angel E. Dago (607604), Ryan Dittamore (3350099), Mark Landers (214385), Jerry Lee (3350096)   +15 more
core   +1 more source

A 12-Gene Genomic Instability Signature Predicts Clinical Outcomes in Multiple Cancer Types

The International Journal of Biological Markers, 2010
Background and aims Genomic instability, as reflected in specific chromosomal aneuploidies and variation in the nuclear DNA content, is a defining feature of human carcinomas.
Rama K.R. Mettu, Ying-Wooi Wan, Jens K. Habermann, Thomas Ried, Nancy Lan Guo   +4 more
doaj   +1 more source

Stretching the Printability Metric in Direct‐Ink Writing with Highly Extensible Yield‐Stress Fluids

Advanced Functional Materials, EarlyView.
This study introduces “drawability” as a new metric for assessing printability in direct‐ink writing, focusing on gap‐spanning performance and speed robustness. By designing yield‐stress fluids with high extensibility, we demonstrate that extensional strain‐to‐break significantly enhances printability.
Chaimongkol Saengow, Samya Sen, Joaquin Yus, Eliza E. Lovrich, Amanda G. Hoika, Kelly M. Chang, Arielle A. Pfeil, Nellie Haug, Amy J. Wagoner Johnson, Randy H. Ewoldt   +9 more
wiley   +1 more source

Bacteria‐Responsive Nanostructured Drug Delivery Systems for Targeted Antimicrobial Therapy

Advanced Materials, EarlyView.
Bacteria‐responsive nanocarriers are designed to release antimicrobials only in the presence of infection‐specific cues. This selective activation ensures drug release precisely at the site of infection, avoiding premature or indiscriminate release, and enhancing efficacy.
Guillermo Landa, Gracia Mendoza, Silvia Irusta, Manuel Arruebo   +3 more
wiley   +1 more source