Results 61 to 70 of about 1,112,598 (185)

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

The FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen, Shenela Lakhani, Joshua Appelbaum, DéJenaé See, Pryce Patterson, Collin M. MacLeod, Alexandra George, Reza Maroofian, Margaret E. Ross, Christopher Francklyn, Alicia M. Ebert   +10 more
wiley   +1 more source

MyD88‐Family Adaptors: Compartmentalised Signalling and Non‐Immune Functions

Immunology, EarlyView.
MyD88‐family adaptors coordinate receptor‐ and compartment‐specific innate immune signalling across plasma membrane and endosomal pathways. At the plasma membrane, TIRAP/MAL supports MyD88‐dependent signalling downstream of TLR2 and TLR4, whereas endosomal TLR7, TLR8 and TLR9 recruit MyD88 directly.
Seshu Vardhan Pothabathula, Saurabh Mishra, Pugazhendhi Kannan, Annette Bellar, Amy Attaway, Nicole Welch, Srinivasan Dasarathy   +6 more
wiley   +1 more source

Renal and Functional Vulnerability in Hansen Disease: A Framework for Chronic Infectious Disability in Endemic Settings

Tropical Medicine &International Health, EarlyView.
ABSTRACT Objectives Hansen disease is a neglected infectious disease associated with reactional inflammation, neuropathy and long‐term disability. Renal involvement and sarcopenia have been described separately, but their clinical coexistence has received limited attention. This review examines evidence for a hypothesised renal–functional vulnerability
Kleberson de Oliveira, Lucas Maciel de Almeida Corrêa, Isabela Malerba Pinheiro, Alexandre de Assis Barbosa, Maria Eduarda Castro Gonçalves, Lara Lucena Fernandes Filgueiras, Lara Reis Gomes de Mello Queiroz   +6 more
wiley   +1 more source

Vocal cord paralysis in multifocal motor neuropathy: A case report Multifokal motor nöropatide vokal kord paralizisi: Olgu sunumu

, 2012
Multifocal motor neuropathy is characterized by a slow, progressive, asymmetrical weakness of the extremities without sensory loss. The disease can also cause vocal cord paralysis as it runs its course. A 34-year-old man developed progressive weakness in
ALTUNTAŞ, EMİNE ELİF, Şentürk, Ilteriş Ahmet, BOLAYIR, ERTUĞRUL, Yildiz, ÖZLEM, BALABAN, HATİCE, Topaktaş, Suat, UYSAL, İSMAİL ÖNDER   +6 more
core   +2 more sources

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Anaesthetic Course in a Rare Case of Lupus Vasculitis Presenting as Mononeuritis Multiplex for Caesarean Section

Journal of Obstetric Anaesthesia and Critical Care
The term mononeuritis multiplex (MNM) complex is used to describe myriad groups of disorders that share a common presentation characterized by painful, multifocal, asymmetrical peripheral neuropathy affecting sensory and motor nerves.
Lydia Nithian, MV Vidya, Priyanga Kumar, Sivakumar Segaran   +3 more
doaj   +1 more source

Fampridine for Symptomatic Treatment in Chronic Inflammatory Demyelinating Polyneuropathy: A Randomized, Double‐Blinded, Placebo‐Controlled Crossover Study

Journal of the Peripheral Nervous System, Volume 31, Issue 4, December 2026.
ABSTRACT Background and Aims Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) is an immune‐mediated neuropathy that may cause persistent disability despite immunoglobulin treatment. Ion channel dysfunction has been demonstrated in CIDP, but no therapies specifically target this mechanism.
Peter Nørregaard Hansen, Lars Markvardsen, Hatice Tankisi, Henning Andersen, Thomas Krøigård, Søren Sindrup   +5 more
wiley   +1 more source

Patients with chronic autoimmune demyelinating polyneuropathies exhibit cognitive deficits which might be associated with CSF evidence of blood-brain barrier disturbance.

PLoS ONE, 2020
BACKGROUND:Chronic autoimmune demyelinating polyneuropathies (CADP) result in impaired sensorimotor function. However, anecdotal clinical observations suggest the development of cognitive deficits during the course of disease.
Yavor Yalachkov, Valerie Uhlmann, Johannes Bergmann, Dilara Soydaş, Stefan Frisch, Marion Behrens, Christian Foerch, Johannes Gehrig   +7 more
doaj   +1 more source

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source

POEMS Syndrome: 2026 Update on Diagnosis, Risk‐Stratification, and Management

American Journal of Hematology, Volume 101, Issue 10, Page 2632-2651, October 2026.
ABSTRACT Disease Overview POEMS syndrome is a life‐threatening syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease.
Angela Dispenzieri
wiley   +1 more source