Polar self-organization of ferroelectric nematic liquid crystal molecules on atomically flat Au(111) surface

Autor: Marchenko, Alexandr A., Kapitanchuk, Oleksiy L., Lopatina, Yaroslava Yu., Nazarenko, Kostiantyn G., Senenko, Anton I., Katsonis, Nathalie, Nazarenko, Vassili G., Lavrentovich, Oleg D.

Publikováno v: Physical Review Letters 132, 098101 (2024)

Understanding nanoscale mechanisms responsible for the recently discovered ferroelectric nematics can be helped by direct visualization of self-assembly of strongly polar molecules. Here we report on scanning tunneling microscopy (STM) studies of mon

Externí odkaz: http://arxiv.org/abs/2401.10048

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

Autor: Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O. B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S. Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell-Luria

Publikováno v: Human Genomics, Vol 18, Iss 1, Pp 1-25 (2024)

Abstract Background A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturing variants genome-wi

Externí odkaz: https://doaj.org/article/29fbe7d26d88463789f004c8908aa4a7

Functional variants identify sex-specific genes and pathways in Alzheimer’s Disease

Autor: Thomas Bourquard, Kwanghyuk Lee, Ismael Al-Ramahi, Minh Pham, Dillon Shapiro, Yashwanth Lagisetty, Shirin Soleimani, Samantha Mota, Kevin Wilhelm, Maryam Samieinasab, Young Won Kim, Eunna Huh, Jennifer Asmussen, Panagiotis Katsonis, Juan Botas, Olivier Lichtarge

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-15 (2023)

Abstract The incidence of Alzheimer’s Disease in females is almost double that of males. To search for sex-specific gene associations, we build a machine learning approach focused on functionally impactful coding variants. This method can detect di

Externí odkaz: https://doaj.org/article/5fd507b11a1941148399c2ae7ff75fb9

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Evolutionary action of mutations reveals antimicrobial resistance genes in Escherichia coli

Autor: David C. Marciano, Chen Wang, Teng-Kuei Hsu, Thomas Bourquard, Benu Atri, Ralf B. Nehring, Nicholas S. Abel, Elizabeth A. Bowling, Taylor J. Chen, Pamela D. Lurie, Panagiotis Katsonis, Susan M. Rosenberg, Christophe Herman, Olivier Lichtarge

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)

The emergence of antibiotic resistance, even against last-line antibiotics such as colistin, is a serious public health threat. To guide treatment and drug development strategies, Marciano et al. apply evolutionary action (EA) analysis to identify dr

Externí odkaz: https://doaj.org/article/769ce09d0d21450c9e7f82f6e09d8059