Results 81 to 90 of about 93,691 (297)

A Self‐Organized Liquid Reaction Container for Cellular Memory

Advanced Science, EarlyView.
How cells restore epigenetic information lost during replication is not known. This work proposes a mechanism based on the formation of biomolecular condensates. These condensates are induced by the chromosome itself and serve as reaction vessels for reconstructing missing epigenetic markers.
Sukanta Mukherjee, Enrico Skoruppa, Holger Merlitz, Jens‐Uwe Sommer, Helmut Schiessel   +4 more
wiley   +1 more source

Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

Cell Reports, 2012
Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two
Wigard P. Kloosterman, Masoumeh Tavakoli-Yaraki, Markus J. van Roosmalen, Ellen van Binsbergen, Ivo Renkens, Karen Duran, Lucia Ballarati, Sarah Vergult, Daniela Giardino, Kerstin Hansson, Claudia A.L. Ruivenkamp, Myrthe Jager, Arie van Haeringen, Elly F. Ippel, Thomas Haaf, Eberhard Passarge, Ron Hochstenbach, Björn Menten, Lidia Larizza, Victor Guryev, Martin Poot, Edwin Cuppen   +21 more
doaj   +1 more source

AID induces double-strand breaks at immunoglobulin switch regions and c-MYC causing chromosomal translocations in yeast THO mutants. [PDF]

PLoS Genetics, 2011
Transcription of the switch (S) regions of immunoglobulin genes in B cells generates stable R-loops that are targeted by Activation Induced Cytidine Deaminase (AID), triggering class switch recombination (CSR), as well as translocations with c-MYC ...
José F Ruiz, Belén Gómez-González, Andrés Aguilera   +2 more
doaj   +1 more source

Molecular and classical cytogenetic analyses demonstrate an apomorphic reciprocal chromosomal translocation in Gorilla gorilla [PDF]

, 1992
The existence of an apomorphic reciprocal chromosomal translocation in the gorilla lineage has been asserted or denied by various cytogeneticists. We employed a new molecular cytogenetic strategy (chromosomal in situ suppression hybridization) combined ...
Bigoni, F., Cremer, Thomas, Jauch, Anna, Romagno, D., Stanyon, Roscoe, Wienberg, Johannes   +5 more
core   +1 more source

CLinNET: An Interpretable and Uncertainty‐Aware Deep Learning Framework for Multi‐Modal Clinical Genomics

Advanced Science, EarlyView.
Identifying disease‐causing genes in neurocognitive disorders remains challenging due to variants of uncertain significance. CLinNET employs dual‐branch neural networks integrating Reactome pathways and Gene Ontology terms to provide pathway‐level interpretability of genomic alterations.
Ivan Bakhshayeshi, Mohammad Mahdi Hosseini, Ahmadreza Argha, Roxana Zahedi, Nigel H. Lovell, Hamid Alinejad‐Rokny   +5 more
wiley   +1 more source

Mitochondrial stress in advanced fibrosis and cirrhosis associated with chronic hepatitis B, chronic hepatitis C, or nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Adaptive mitochondrial mechanisms allow mitochondrial resilience and prevent the worsening of fibrosis, while deregulation of these mechanisms promotes the progression from no/minimal‐mild (F0‐F2) fibrosis to advanced fibrosis and cirrhosis (F3‐F4). Abstract Background and Aims Hepatitis B virus (HBV) infection causes oxidative stress (OS) and alters ...
Dimitri Loureiro, Issam Tout, Stéphanie Narguet, Cheikh Mohamed Bed, Morgane Roinard, Ahmad Sleiman, Nathalie Boyer, Nathalie Pons‐Kerjean, Corinne Castelnau, Nathalie Giuly, Dorothy Tonui, Vassili Soumelis, Jamel El Benna, Patrick Soussan, Richard Moreau, Valérie Paradis, Abdellah Mansouri, Tarik Asselah   +17 more
wiley   +1 more source

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

Molecular Cytogenetics, 2019
Background Complex chromosomal rearrangements are constitutive structural aberrations involving three or more breaks. They can be balanced or unbalanced and result in different outcomes, depending on deletion/duplication of genomic material, gene ...
Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo, Valentina Coletti, Daniele Pompili, Roberto Falasca, Bruno Dallapiccola, Rossella Capolino, Matteo Luciani, Antonio Novelli   +11 more
doaj   +1 more source

A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones [PDF]

, 1993
The identification of marker chromosomes in clinical and tumor cytogenetics by chromosome banding analysis can create problems. In this study, we present a strategy to define minute chromosomal rearrangements by multicolor fluorescence in situ ...
A Kallioniemi, Anna Jauch, B Dutrillaux, C Lengauer, C Lengauer, CC Collins, Christoph Lengauer, D Pinkel, Detlev Schindler, DH Ledbetter, DH Ledbetter, GD Johnson, H Telenius, Harold C. Riethman, Helen Donis-Keller, J Grouchy de, J Sambrook, J Wiegant, JG Dauwerse, JS Heslop-Harrison, JW IJdo, Michael R. Speicher, P Lichter, P Lichter, PM Nederlof, PM Nederlof, S Manoir du, Susanne Popp, T Ried, T Ried, T Ried, Thomas Cremer   +31 more
core   +1 more source

Quantitative Proteomics and CRISPR/Cas9 Editing Reveal UPR‐Mediated Control of Immunoglobulin Homeostasis in Hybridomas

Advanced Science, EarlyView.
BCR sequencing and subclone analysis correlated immunoglobulin (Ig) chain loss in dysfunctional hybridomas with disrupted monoclonal antibody homeostasis. Proteomics‐guided CRISPR/Cas9 editing revealed that the unfolded protein response (UPR) regulates aberrant Ig synthesis.
Rubing Zou, Xinying Lu, Ying Liu, Peiyu Yang, Shuo Sun, Yihua Liu, Yinyuan Mo, Guonian Zhu, Jae Seong Lee, Yirong Guo   +9 more
wiley   +1 more source

Pretransplant HLA typing revealed loss of heterozygosity in the major histocompatibility complex in a patient with acute myeloid leukemia [PDF]

, 2019
Introduction Chromosomal abnormalities are frequent events in hematological malignancies. The degree of HLA compatibility between donor and recipient in hematopoietic stem cell transplantation is critical.
Breman, Amy M., Britton, Rebecca M., Cui, Connie P., Farag, Sherif S., Kashi, Zahra, Krueger-Sersen, Mary, Littrell, Courtney A., Lobashevsky, Andrew L., Martin, Russ K., Singh, Susmita, Vance, Gail H.   +10 more
core   +1 more source