Results 131 to 140 of about 179,655 (257)

Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome

Clinical Genetics, EarlyView.
Jones syndrome (JS) is an ultra‐rare condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been associated with a pathogenic REST exon‐5 variant (c.2670_2673del) in a Finnish family. We describe the first Italian family with JS in which a novel pathogenic REST exon‐5 variant (c.2645T>G) was identified ...
Valentina Lodato, Massimo Galli, Giacomo D'Angeli, Irene Bottillo, Luca Celli, Rosaria Turchetta, Andrea Colizza, Francesca Gianno, Biagio Palmisano, Francesca Romana Federici Stanganelli, Maria Rita Bianco, Daniela Messineo, Eugenia Allegra, Paola Grammatico, Mara Riminucci, Alessandro Corsi   +15 more
wiley   +1 more source

Implication of GPRASP2 in the Proliferation and Hair Cell‐Forming of Cochlear Supporting Cells

Cell Proliferation, EarlyView.
Schematic diagram of GPRASP2‐mediated SCs proliferation and HCs formation. GPRASP2 deficiency results in increased lysosomal degradation of SMO. GPRASP2‐mediated SMO/GLI1 signalling promotes SC proliferation, which contributes to HC formation. GPRASP2‐mediated SMO/β‐catenin signalling is implicated in HCs fate specification and differentiation ...
Jing Cai, Kun Huang, Wenrui Li, Tianming Wang, Shen Yue, Zhibin Chen, Guangqian Xing, Qinjun Wei, Jun Yao, Xin Cao   +9 more
wiley   +1 more source

Single‐Nucleus Transcriptomics Uncovers Xaf1‐Driven PANoptosis as a Therapeutic Target in Aminoglycoside‐Induced Hearing Loss

Cell Proliferation, EarlyView.
Neomycin induces increased expression of Xaf1 in cochlear HCs, triggering PANoptosis, which encompasses pyroptosis, apoptosis and necroptosis (left). Targeted Xaf1 knockdown in HCs through gene therapy can significantly inhibit the occurrence of PANoptosis in HCs (right).
Xinlin Wang, Hairong Xiao, Jiheng Wu, Yanqin Lin, Yiheng Ao, Zixuan Ye, Xin Tan, Fanliang Kong, Xin Chen, Renjie Chai, Shasha Zhang   +10 more
wiley   +1 more source

Lower risk of cardiovascular events in patients initiated on semaglutide 2.4 mg in the real‐world: Results from the SCORE study (Semaglutide Effects on Cardiovascular Outcomes in People with Overweight or Obesity in the Real World)

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Aims In this first interim analysis of the SCORE study, we investigated the risk of major adverse cardiovascular events (MACE) among individuals with atherosclerotic cardiovascular disease (ASCVD) and overweight/obesity but without diabetes who initiated semaglutide 2.4 mg in real‐world settings.
Kim G. Smolderen, Carlos Mena‐Hurtado, Zhenxiang Zhao, Wojciech Michalak, Mads Faurby, B. Gabriel Smolarz, Mikhail N. Kosiborod, Jinlin Song, Yan Chen, Joanna Boland, Michael G. Nanna   +10 more
wiley   +1 more source

Peripheral blood mononuclear cell secretome from patients with autoimmune encephalitis promotes seizures in vitro

Epilepsia, EarlyView.
Abstract Objective Autoimmune encephalitis (AE) is characterized by inflammatory processes in the central nervous system and frequently presents with seizures. Even though an ictogenic potential has been shown for some antibodies against neuronal surface antigens (NSAbs), AE pathophysiology is complex, and NSAbs‐independent mechanisms are likely to ...
Sara Prevosti, Alessio Passalacqua, Maria Cristina Regondi, Giada D'Ambrosio, Alessandra Morano, Michele Romoli, Giulia Maira, Flavio Villani, Pietro Mattioli, Diego Franciotta, Andrea Stabile, Marco de Curtis, Matteo Gastaldi, Francesco Deleo, Laura Librizzi   +14 more
wiley   +1 more source

Supra-Threshold Hearing and Fluctuation Profiles: Implications for Sensorineural and Hidden Hearing Loss

Journal of the Association for Research in Otolaryngology, 2018
L. Carney
semanticscholar   +1 more source

Transcription‐coupled repair: tangled up in convoluted repair

The FEBS Journal, EarlyView.
In this review, we discuss recent findings derived from diverse genomic, biochemical and structural, imaging, and functional studies (B–E) that culminated in deep mechanistic insight (A) into the vital cellular process of transcription‐coupled nucleotide excision repair (TC‐NER).
Diana A. Llerena Schiffmacher, Yun Jin Pai, Alex Pines, Wim Vermeulen   +3 more
wiley   +1 more source

Pediatric Sensorineural Hearing Loss [PDF]

Ear, Nose & Throat Journal, 2014
openaire   +2 more sources

Examining the association between placental malperfusion assessed by histopathological examination and child and adolescent neurodevelopment: a systematic review

Journal of Child Psychology and Psychiatry, EarlyView.
Background Placental malperfusion, categorised into maternal vascular malperfusion (MVM) and foetal vascular malperfusion (FVM), is a main placental pathology known to affect placental functioning and offspring outcomes. The aim of this review is to evaluate the association between exposure to placental malperfusion and offspring neurodevelopment from ...
Noha Ibrahim, Sydni A. Weissgold, Lucy Brink, Ibtihal Mahgoub, Ben Carter, Vaheshta Sethna, Hein Odendaal   +6 more
wiley   +1 more source

The cochlear apex demystified: Implications from synchrotron radiation phase‐contrast imaging and microscopy for cochlear implantation

Journal of Anatomy, EarlyView.
This study is the first to present the detailed cellular organization and three‐dimensional (3D) tonotopic arrangement of the human organ of Corti, spiral ganglion, and central modiolus using synchrotron radiation phase‐contrast imaging (SR‐PCI) with matched histological cross‐sections.
Hao Li, Rudolf Glueckert, Anneliese Schrott‐Fischer, Karin Staxäng, Hanif M. Ladak, Helge Rask‐Andersen, Sumit Agrawal   +6 more
wiley   +1 more source