Results 91 to 100 of about 255,164 (264)

Dual native G‐quadruplex folding is associated with chromatin looping at the MYC locus

FEBS Open Bio, EarlyView.
BG4‐detectable G‐quadruplex (G4) in HaCaT and NHEK keratinocytes identified folded and unfolded G4s enriched at promoters/TSSs and active enhancers, whereas unfolded G4s also overlapped weak/poised enhancers. At MYC–PVT1, 3C‐qPCR detected enhancer–promoter looping only when G4s were simultaneously folded at both regulatory elements under native ...
Dieila Giomo de Lima, Gustavo Narvaes Guimarães, Emilyane de Oliveira Santana Amaral, Bianca Caroline Figueiredo Bianco, Manuel Jara‐Espejo, Sérgio Roberto Peres Line, Ana Paula de Souza, Aline Cristiane Planello   +7 more
wiley   +1 more source

From patient advocacy to patient‐driven research: Building active partnerships beginning at the bench to reach the bedside

FEBS Open Bio, EarlyView.
Research is strongest when conducted alongside patients, not just about them. Patient research organizations help integrate patient perspectives into research priorities, study design, and scientific meetings, leading to meaningful patient outcomes and development of relevant therapies.
Jenica H. Kakadia, Rachel Heilmann, Maximiliano Barrientos, Laura MacNeill, Ingrid Vallee, Sarah K. Schultz, Patrick O'Donoghue, Angelica A. Moresco, Victoria M. Siu, Ilka U. Heinemann   +9 more
wiley   +1 more source

Perception and Interpretation of Contrastive Pitch Accent During Spoken Language Processing in Autistic Children

Languages
Although prosodic differences in autistic individuals have been widely documented, little is known about their ability to perceive and interpret specific prosodic features, such as contrastive pitch accent—a prosodic signal that places emphasis and helps
Pumpki Lei Su, Duane G. Watson, Stephen Camarata, James Bodfish   +3 more
doaj   +1 more source

Threonine 348 regulates the subcellular localization of PTEN

FEBS Open Bio, EarlyView.
Thr348 in the C2 domain is a key contributor to PTEN subcellular localization. The PTEN350 fragment and PTENA4 accumulated in the nucleus, whereas PTENK13R,A4 predominantly localized to the plasma membrane. In contrast, substitution of Thr348 with Asp (T348D) disrupted these characteristic localization patterns, resulting in predominant cytoplasmic ...
Takashi Kato, Suzu Tanaka, Miyu Ohashi
wiley   +1 more source

The association of mood disorders and mild cognitive impairment with language performance in older adults: insights from a community healthcare setting

Frontiers in Dementia
BackgroundMood disorders are frequent in memory clinic populations, but their association with language difficulties in the context of cognitive decline is not well understood.
Nomiki Karpathiou, Nomiki Karpathiou, Angeliki Tsapanou, Angeliki Tsapanou, Areti Efthymiou, Evdoxia Kotsiou, Xanthi Arampatzi, Panagiota Zoi, Faidra Kalligerou, Paraskevi Sakka   +9 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Comprehension of definite expressions by Mandarin-speaking children with suspected developmental language disorder (DLD) and children with autism spectrum disorder and language impairment (ALI)

Glossa
An increasing number of studies have shown that there is a subgroup inside children with autism spectrum disorder (ASD) who demonstrates impaired language profiles similar to children with developmental language disorder (DLD). As a discriminative marker,
Shasha An, Xiaowei He, Zhenghao Zhang
doaj   +2 more sources

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 more
wiley   +1 more source

Classifying and Monitoring Primary Progressive Aphasia in the Greek Population: A “Mini Linguistic State Examination (MLSE)” Tool

Medicina
Background and Objectives: Difficulties in language production and comprehension constitute clinical symptoms characterizing patients diagnosed with Primary Progressive Aphasia (PPA).
Valentina Papadopoulou, Eleni Konstantinopoulou, Aikaterini Liapi, Chrissa Sioka, Ioannis Iakovou, Eleni Aretouli, Panagiotis Ioannidis   +6 more
doaj   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source