Results 51 to 60 of about 207,089 (284)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Application of three statistical approaches to explore effects of dietary intake of multiple persistent organic pollutants on ER-positive breast cancer risk in the French E3N cohort

Scientific Reports
Persistent organic pollutants (POPs) are a group of organic chemical compounds. Contradictory results have emerged in epidemiological studies attempting to elucidate their relationship with breast cancer risk. This study explored the relationship between
Pauline Frenoy, Ismaïl Ahmed, Chloé Marques, Xuan Ren, Gianluca Severi, Vittorio Perduca, Francesca Romana Mancini   +6 more
doaj   +1 more source

‘His father’s voice’: Phonographs and Heredity in the Fiction of Samuel Butler

19, 2014
The article explores the interaction between concepts of heredity and technologies of voice recording and reproduction in the late-Victorian imagination through the example of Samuel Butler.
Will Abberley
doaj   +2 more sources

Deep Learning–Assisted Differentiation of Four Peripheral Neuropathies Using Corneal Confocal Microscopy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah, Ioannis N. Petropoulos, Mark Stettner, Maryam Ferdousi, Uazman Alam, Nathan Efron, Ahmed Serag, Rayaz A. Malik   +7 more
wiley   +1 more source

Transmission maternelle en Grèce ancienne : du physique au comportement

Cahiers Mondes Anciens, 2015
My paper will examine a variety of sources (medical and biological texts, tragedy and comedy, forensic rhetoric, poetry), in order to consider and reassess the role of the mother in the construction of child-identity in the ancient Greek world ...
Florence Gherchanoc
doaj   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Biological embodiment of educational attainment and future risk of breast cancer: findings from a French prospective cohort

BMJ Open
Background Women with higher educational attainment have a higher risk of developing breast cancer (BC). Despite the acknowledged impact of reproductive and lifestyle factors, some excess risks remain unexplained. Many studies support the hypothesis that
Cyrille Delpierre, Raphaële Castagné, Eloïse Berger, Gianluca Severi, Marie-Christine Boutron-Ruault, Laura Baglietto, Laure Dossus, Amandine Gelot, Richard Dudouet   +8 more
doaj   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
wiley   +1 more source

História natural e as idéias de geração e herança no século XVIII: Buffon e Bonnet Natural history and eighteenth-century ideas regarding generation and heredity: Buffon and Bonnet

História, Ciências, Saúde: Manguinhos, 1995
No percurso intelectual da história natural pode-se detectar três aspectos conceituais. O primeiro deles é dado pelo enfoque à taxonomia, na qual o naturalista tinha como objetivo nomear e classificar os seres criados por Deus.
Luzia Aurelia Castañeda
doaj   +1 more source

Hierarchical adaptive polynomial chaos expansions

, 2015
Polynomial chaos expansions (PCE) are widely used in the framework of uncertainty quantification. However, when dealing with high dimensional complex problems, challenging issues need to be faced.
Mai, Chu V., Sudret, Bruno
core   +1 more source