Results 211 to 220 of about 1,002,198 (296)

Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome

The FEBS Journal, EarlyView.
Loss of Mecp2 function is associated with Rett syndrome (RTT). MeCP2 regulates chromatin, yet its influence on histone composition and dynamics is unclear. Combining MALDI‐MSI with LCM–LC–MS/MS, we mapped histone proteoforms across the dentate gyrus, cornu ammonis, and cerebellum in two mouse models of RTT.
Frederike Schäfer, Guiseppa de Rocco, Moritz Völker‐Albert, Ignasi Forne, Nicoletta Landsberger, Axel Imhof, Shibojyoti Lahiri   +6 more
wiley   +1 more source

Compromised DNA replication in gut cells underlies sensitivity to genotoxic stress in the tardigrade Hypsibius exemplaris

The FEBS Journal, EarlyView.
DNA damage in the tardigrade Hypsibius exemplaris elicits distinct cellular outcomes depending on replication status. While non‐replicating cells tolerate genotoxic stress, constitutively replicating cells undergo irreversible replication failure upon DNA damage, leading to loss of tissue homeostasis, fat depletion, sterility, and organismal death ...
Gonzalo Quiroga‐Artigas, Pauline Fontanié, Benjamin Lacroix, Maria Dolores Molina, María Moriel‐Carretero   +4 more
wiley   +1 more source

Gene Editing for Haemophilia—The Next Frontier

Haemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti, Gregory A. Newby, Sundar Selvaraj, Steven W. Pipe   +3 more
wiley   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

Novel tools for characterising inter and intra chromosomal rearrangements in avian microchromosomes

Chromosome Research, 2014
Pamela E. Lithgow, R. O’Connor, Deborah Smith, G. Fonseka, A. Mutery, C. Rathje, R. Frodsham, P. O’Brien, F. Kasai, M. Ferguson-Smith, B. Skinner, D. Griffin   +11 more
semanticscholar   +1 more source

TANC1::HTRA1 fusion in schwannomas

Brain Pathology, EarlyView.
Ilay Caliskan, Kanish Mirchia, Walter Patrick Devine, Melike Pekmezci   +3 more
wiley   +1 more source

Cytogenetic Diversity of Variant Philadelphia Translocations in Chronic Myeloid Leukemia

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction Chronic myeloid leukemia (CML) is a disease characterized by Philadelphia (Ph) translocations. These translocations can be classical or variant. The structural features and diagnostic implications of variant Philadelphia translocations remain incompletely defined, and they display considerable cytogenetic heterogeneity. Methods In
Ayse Gul Bayrak Tokac, Aynur Aday, Simge Erdem, Gulcin Bagatir, Burak Don, Ozden Ozcan, Akif Selim Yavuz, Sevgi Kalayoglu Besisik, Meliha Nalcaci, Kivanc Cefle, Sukru Ozturk   +10 more
wiley   +1 more source

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

Journal of the European Academy of Dermatology and Venereology, EarlyView.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz, Alain Hovnanian, Grace Xiong, Dedee Frances Murrell, Simon M. Mueller, Khaled Ezzedine, Nessa Aghazadeh Mohandesi, Ahmed Salem Aldhaheri, Nissim Asayag, Eulalia Baselga, Chen Nadler, Keith Choate, Chia‐Yu Chu, John Robert Edminister, Emmanuella Guenova, Melis Gönülal, Antoni Gostynski, Ankan Gupta, Lalit Kumar Gupta, Juliette Mazereeuw‐Hautier, Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E. Mellerio, Verena Moosbrugger‐Martinz, Amy S. Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera‐Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L. Simpson, Diego Soto‐García, Alexander J. Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K. Verma, Jakob D. Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk‐Gad   +49 more
wiley   +1 more source

Vectors and Vector‐Borne Diseases: Biology, Epidemiology and Integrated Control Strategies

Journal of Applied Entomology, EarlyView.
ABSTRACT Vector‐Borne Diseases (VBDs), transmitted by arthropods such as mosquitoes, ticks, fleas and sandflies, represent a significant threat to global health. These diseases can be caused by a variety of pathogens, including bacteria, viruses, protozoa, and helminths.
Roberta Rinaldi, Carmen Scieuzo, Federica De Stefano, Luca Masucci, Patrizia Falabella   +4 more
wiley   +1 more source

A single nucleotide polymorphism genotyping panel for efficient genetic stock identification of the Teno river Atlantic salmon (Salmo salar) population complex

Journal of Fish Biology, EarlyView.
Abstract A new single nucleotide polymorphism (SNP) panel for genetic stock identification in the Teno river Atlantic salmon, Salmo salar L., fishery was developed, with a view to improving on an existing microsatellite panel. Twenty‐two genetically differentiated reporting units were proposed based on population genetic analyses of 1212 individuals ...
Helena Johansson, Jaakko Erkinaro, Morten Falkegård, Anders Foldvik, Panu Orell, Craig R. Primmer, Victoria L. Pritchard   +6 more
wiley   +1 more source