Results 181 to 190 of about 145,194 (219)

Generation of quartet reference materials for preimplantation genetic testing for structural rearrangements. [PDF]

BMC Genomics
Sun N, Zhang W, Yu D, Zhang M, Zou Y, Dong X, Wang Y, Song N, Guo Y, Jiang C, Wang W, Kong L, Liang B, Fei J, Lu S, Peng Z, Yu T, Xiang J, Qu S.   +18 more
europepmc   +1 more source

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology, EarlyView.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang   +21 more
wiley   +1 more source

The Role of Chemistry Across Disciplines From Humanities to Life Sciences in Understanding Complexity and Emergence

Angewandte Chemie, EarlyView.
This study explores the origins of life by linking prebiotic chemistry, the emergence of information‐carrying molecules such as RNA and proteins, and philosophical questions about consciousness. The study emphasizes the role of molecular evolution in the Central Dogma and provides insights into the chemical origins of biology and the basis of life's ...
Harald Schwalbe, Josef Wachtveitl, Alexander Heckel, Florian Buhr, Sabrina Toews, Thomas M. Schimmer   +5 more
wiley   +2 more sources

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Hi-reComb: constructing recombination maps from bulk gamete Hi-C sequencing. [PDF]

Genetics
Malinsky M, Talbi M, Zhou C, Maurer N, Sacco S, Shapiro B, Peichel CL, Seehausen O, Salzburger W, Weber JN, Bolnick DI, Green RE, Durbin R.   +12 more
europepmc   +1 more source

Decoding the Pathophysiology of Autoimmune Diseases—Mechanism, Triggers, and Nanotherapeutics: A Review

Advanced NanoBiomed Research, EarlyView.
This review highlights how autoimmune diseases arise from intertwined immunological, genetic, and environmental factors, emphasizing gut microbiota dysbiosis as a pivotal driver. It outlines emerging nanotechnology‐based strategies—such as liposomes, hydrogels, and polymeric nanoparticles—that enhance targeted drug delivery, minimize systemic toxicity,
Md. Meraj Ansari, Yunhui Min, Eun‐Ju Ko, Doyoung Kwon, Rehan Khan, Young‐Ok Son   +5 more
wiley   +1 more source

CTCF maintains centromere function and mitotic fidelity. [PDF]

J Cell Sci
Walsh E, Laskarzewski T, Maresca TJ, Stephens AD.   +3 more
europepmc   +1 more source

Evolution of chromosomes and nuclear architectures of amniotes. [PDF]

Nat Commun
Liu J, Zhou Q.
europepmc   +1 more source

Insights into natural neocentromere evolution from a cattle T2T X chromosome. [PDF]

Nat Commun
Pineda PS, MacPhillamy C, Ren Y, Chen T, Zhong L, Adelson DL, Dessaix C, Perez-Silva J, Haggerty L, Martin FJ, Bottema CDK, Pitchford WS, Rosen BD, Smith TPL, Low WY.   +14 more
europepmc   +1 more source