Results 131 to 140 of about 1,079,327 (290)

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Study of red vine phenotypic plasticity across central-southern Italy sites: an integrated analysis of the transcriptome and weather indices through WGCNA

Frontiers in Plant Science
The grapevine (Vitis spp., family Vitaceae) is characterized by marked phenotypic plasticity. Its ability to withstand specific environmental conditions depends on the activation of highly coordinated responses resulting from interactions among genotypes
Angelo Sicilia, Clizia Villano, Riccardo Aversano, Ermanno Di Serio, Elisabetta Nicolosi, Filippo Ferlito, Angela Roberta Lo Piero   +6 more
doaj   +1 more source

Emergent Spin Hall Quantization and High‐Order van Hove singularities in Square‐Octagonal MA2Z4

Advanced Physics Research, EarlyView.
Square‐octagonal MA2Z4 (M = Mo/W, A = Si/Ge, Z = pnictogen) monolayers are predicted to realize quantum spin Hall insulators with nearly quantized spin Hall conductivity enabled by an emergent spin U(1) quasi‐symmetry. Materials with Z = As and Sb host quasi‐flat bands with high‐order van Hove singularities near the Fermi level, making them promising ...
Rahul Verma, Yash Vardhan, Hsin Lin, Bahadur Singh   +3 more
wiley   +1 more source

The Berry Paradox

Journal of Philosophical Logic
Abstract Berry’s Paradox, like Russell’s Paradox, is a ‘paradox’ in name only. It differs from genuine logico-semantic paradoxes such as the Liar Paradox, Grelling’s Paradox, the Postcard Paradox, Yablo’s Paradox, the Knower Paradox, Prior’s Intensional Paradoxes, and their ilk. These latter arise from semantic closure.
openaire   +1 more source

The Progress of Orbitronics: The Enhancement of Orbital Torque Efficiency

Advanced Physics Research, EarlyView.
Orbit‐torque (OT) devices attract significant attention for their low‐power consumption and high stability in applications. This review systematically outlines strategies for enhancing OT efficiency. We categorize approaches into boosting orbital currents/torques and improving the orbital‐to‐spin conversion coefficient.
Pengfei Liu, Tianci Tong, Delin Zhang, Tian Wang, Xinze Li, Ping Wang, Yong Jiang   +6 more
wiley   +1 more source

Multifunctional Metasurfaces for Bridging Terahertz Waves in Free Space and Waveguides

Advanced Physics Research, EarlyView.
A multifunctional terahertz metasurface capable of simultaneous orthogonal polarization conversion and phase modulation is integrated onto a dielectric slab waveguide, thereby enabling efficient free‐space‐to‐guided‐wave coupling. By implementing tailored phase gradients on the metasurface, we demonstrate the formation of a focused spot within the ...
Jinhui Lu, Yushan Chen, Min Zhang, Hong Su, Ling Li, Huawei Liang   +5 more
wiley   +1 more source

The morphology of the oval window in Paranthropus robustus compared to humans and other modern primates

The Anatomical Record, EarlyView.
Abstract The oval window (OW) is an opening connecting the inner and middle ear. Its area has been shown to consistently scale with body mass (BM) in primates, and has been used alongside semi‐circular canal (SCC) size to differentiate Homo sapiens and fossil hominins, including Paranthropus robustus.
Ruy Fernandez, José Braga
wiley   +1 more source

Inter‐ and intraspecific variation in theropod dinosaur dental microwear and its palaeoecological implications

The Anatomical Record, EarlyView.
Abstract Differences in skull and tooth morphology, stomach contents, and estimated bite force between medium‐to‐large sized (≥100 kg) predatory theropod dinosaurs have long been suspected to correlate with differences in their diets and dietary guilds (e.g., hypercarnivory, piscivory).
Cassius Morrison, James Gregory, Christopher Jackson, Jordan Bestwick, Katlin Schroeder, Samuel J.L. Gascoigne, Paul Bills, Laura B. Porro, Philip D. Mannion, Paul M. Barrett   +9 more
wiley   +1 more source

Selenomethionine Regulates the Arachidonic Acid Metabolism‐Ferroptosis‐Inflammation Axis to Ameliorate Colitis

Animal Research and One Health, EarlyView.
Selenomethionine can ameliorate arachidonic acid‐induced colonic injury through synergistic mechanisms, including alleviating inflammatory responses, improving barrier integrity, enhancing antioxidant capacity by upregulating selenoprotein expression, selectively regulating AA metabolism to reduce pro‐inflammatory oxylipins and promote the production ...
Huihui Tian, Longzhu Zhou, Xiaohui Feng, Jialu Shen, Xiaoping Du, Qingyu Zhao, Yuchang Qin, Junmin Zhang, Chaohua Tang   +8 more
wiley   +1 more source