Results 61 to 70 of about 10,207 (224)

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Structural basis for the preservation of a subset of topologically associating domains in interphase chromosomes upon cohesin depletion

eLife
Compartment formation in interphase chromosomes is a result of spatial segregation between euchromatin and heterochromatin on a few megabase pairs (Mbp) scale.
Davin Jeong, Guang Shi, Xin Li, D Thirumalai   +3 more
doaj   +1 more source

Senotherapeutics for Knee Osteoarthritis

Medicinal Research Reviews, EarlyView.
ABSTRACT Osteoarthritis (OA) is a chronic disease that imposes a significant economic burden and deteriorates quality of life. Nevertheless, current therapeutic options for OA are limited to symptomatic remedies. As such, there is a high interest in novel methods for treating or preventing OA.
Ezgi Duman, Girish Pattappa, Patrick Pann, Stephan Reppenhagen, Maximilian Rudert, Peter Angele, Denitsa Docheva   +6 more
wiley   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

5C analysis of the Epidermal Differentiation Complex locus reveals distinct chromatin interaction networks between gene-rich and gene-poor TADs in skin epithelial cells.

PLoS Genetics, 2017
Mammalian genomes contain several dozens of large (>0.5 Mbp) lineage-specific gene loci harbouring functionally related genes. However, spatial chromatin folding, organization of the enhancer-promoter networks and their relevance to Topologically ...
Krzysztof Poterlowicz, Joanne L Yarker, Igor Malashchuk, Brian R Lajoie, Andrei N Mardaryev, Michal R Gdula, Andrey A Sharov, Terumi Kohwi-Shigematsu, Vladimir A Botchkarev, Michael Y Fessing   +9 more
doaj   +1 more source

Diverse reactivity of maleimides in polymer science and beyond

Polymer International, Volume 74, Issue 4, Page 296-306, April 2025.
This mini‐review provides a thorough overview of maleimide chemistry, highlighting its diverse reactivity in polymer and materials science applications. Abstract Maleimides are remarkably versatile functional groups, capable of participating in homo‐ and copolymerizations, Diels–Alder and (photo)cycloadditions, Michael additions, and other reactions ...
Bruce E Kirkpatrick, Kristi S Anseth, Tayler S Hebner   +2 more
wiley   +1 more source

Ashwagandha: Is It Safe? Part 1: A Regulatory Review

Phytotherapy Research, EarlyView.
ABSTRACT Over the last decade, ashwagandha (Withania somnifera (L.) Dunal, AS) has been brought under increasing scrutiny by EU regulators regarding its safety for the use in food supplements, culminating in a recent recommendation for an Article 8 procedure according to Regulation (EC) No. 1925/2006 in the European Union (EU).
T. Brendler, R. Al‐Mondhiry, L. Lang, R. Marles, M. Tallon, A. Raghu   +5 more
wiley   +1 more source

Two‐Stage Power Management for Triboelectric Nanogenerators: Toward Reliable and Efficient Self‐Powered Systems

Safety Science and Technology, EarlyView.
This review systematically outlines two‐stage power management circuits for TENGs, integrating AC–DC and DC–DC conversion to overcome high impedance and unstable output. It highlights strategies for efficient energy extraction and stable power delivery, enabling the development of reliable self‐powered systems for safety monitoring and applications in ...
Jiaxin Hu, Zhiyong Zhang, Haiyang Shao, Tianyu Shi, Baoling Yuan, Ming‐Lai Fu   +5 more
wiley   +1 more source

Native habitat affinities predict fish invasions with post‐invasion habitat shifts

Journal of Animal Ecology, EarlyView.
Initial invasion success is gated by native pre‐adaptations, but post‐invasion establishment is characterized by habitat shifts. We demonstrate that forecasting risk based solely on native niches severely underestimates future ecological impacts, and we provide an empirically validated watchlist of future invaders.
Shahar Chaikin, Tal Gavriel, Avery Deveto, Shahar Malamud, Jonathan Belmaker   +4 more
wiley   +1 more source

Current situation, trends, and challenges navigating temporary anchorage devices usage among orthodontists in China: a comprehensive multi-center survey

BMC Oral Health
Background The temporary anchorage devices (TADs) are presently a viable and popular treatment option for orthodontics all over the world. However, there is a lack of investigation and research on its application among orthodontists in China.
Zining Chen, Hao Wang, Qianwen Li, Ningrui Zhao, Jieni Zhang, Xuedong Wang   +5 more
doaj   +1 more source