Results 201 to 210 of about 909,959 (264)

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

Molecular pathology of lymphoma and its treatment strategies: from mechanistic elucidation to precision medicine. [PDF]

Front Immunol
Wang Z, Feng S, Yao X, Zhao R, Li Y, Zheng M, Li Z, Wang Y.   +7 more
europepmc   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +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

Editorial: Molecular pathology, biomarkers and therapeutics of brain tumor and neurodegenerative disease. [PDF]

Front Mol Neurosci
Wang J.
europepmc   +1 more source

Molecular Pathology of Gastroesophageal Cancer. [PDF]

Clin Lab Med
Stachler MD, Jin RU.
europepmc   +1 more source

Correction: Proteomics of the temporal cortex in semantic dementia reveals brain-region specific molecular pathology and regulation of the TDP-43-ANXA11 interactome. [PDF]

Acta Neuropathol Commun
Miedema SSM, Rajicic A, Mol MO, Paliukhovich I, Klaassen RV, van Buuren R, Li KW, Koopmans FTW, Seelaar H, van Rooij JGJ, Smit AB, van Swieten JC.   +11 more
europepmc   +1 more source

The routine use of a digital tool for the tumor cell fraction quantification in molecular pathology: an international validation of QuANTUM. [PDF]

Pathologica
L'Imperio V, Capitoli G, Cazzaniga G, Mannino M, Bono F, Seminati D, Eloy C, Pinto J, Guerini Rocco E, Fassan M, Pisapia P, Pepe F, Pijuan L, Temprana-Salvador J, Polonia A, Khurram SA, Bonoldi E, Marando A, Perrone G, Galimberti S, Troncone G, Malapelle U, Pagni F, PMMP SIAPEC collaborators.   +23 more
europepmc   +1 more source

Cardiac Amyloidosis: State-of-the-Art Review in Molecular Pathology. [PDF]

Curr Issues Mol Biol
Salzillo C, Franco R, Ronchi A, Quaranta A, Marzullo A.   +4 more
europepmc   +1 more source

Molecular Pathology of Myotonic Dystrophy Type 1 in Iceland. [PDF]

Mol Genet Genomic Med
Hallgrímsdóttir EG, Svansson H, Stefánsdóttir VF, Sveinsson ÓÁ, Ólafsdóttir H, Briem E, Sveinbjörnsdóttir S, Jónsson JJ.   +7 more
europepmc   +1 more source