Results 81 to 90 of about 92,178 (328)

Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]

, 2019
Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto, Marques, Barbara, Serafim, Silvia   +2 more
core   +1 more source

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

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

PLoS Genetics, 2018
Clustered copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) are often reported as germline chromothripsis. However, such cases might need further investigations by massive parallel whole genome sequencing (WGS) in order to ...
Lusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, Johanna Lundin, Daniel Nilsson, Josephine Wincent, Agne Lieden, Lovisa Lovmar, Jesper Ottosson, Jelena Gacic, Outi Mäkitie, Ann Nordgren, Francesco Vezzi, Valtteri Wirta, Max Käller, Tina Duelund Hjortshøj, Cathrine Jespersgaard, Rayan Houssari, Laura Pignata, Mads Bak, Niels Tommerup, Elisabeth Syk Lundberg, Zeynep Tümer, Anna Lindstrand   +23 more
doaj   +1 more source

Joining of Immunoglobulin Heavy Chain Gene Segments: Implications from a Chromosome with Evidence of Three D-JH Fusions [PDF]

, 1982
A chromosomal segment with a unique structure around the immunoglobulin heavy chain joining region (JH) has been molecularly cloned from an Abelson murine leukemia virus-transformed cell line.
Alt, Frederick W., Baltimore, David
core   +1 more source

Scrambling the genome in cancer: causes and consequences of complex chromosome rearrangements [PDF]

, 2023
Ksenia Krupina, Alexander Goginashvili, Don W. Cleveland   +2 more
openalex   +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

The radial arrangement of the human chromosome 7 in the lymphocyte cell nucleus is associated with chromosomal band gene density [PDF]

, 2008
This is the author's accepted manuscript. The final published article is available from the link below. Copyright @ Springer-Verlag 2008.In the nuclei of human lymphocytes, chromosome territories are distributed according to the average gene density of ...
A Bolzer, A Ono, AM Boutanaev, B Dutrillaux, BA Boggs, C Federico, C Federico, C Federico, C Federico, C Federico, Catia Daniela Cantarella, CM Clemson, Concetta Federico, D Zink, E Lukasova, ED Andrulis, EV Volpi, G Bernardi, G D’Onofrio, H Tanabe, H Tanabe, HA Foster, I Solovei, IHGSC (International Human Genome Sequencing Consortium), J Ferreira, J Strouboulis, J Zhou, JA Croft, JJ Roix, JM Bridger, K Kupper, KE Brown, L Andreozzi, M Cockell, M Costantini, M Neusser, N Gilbert, N Sadoni, NV Petrova, Patrizia Di Mare, PS Masny, S Boyle, S D’Antoni, S Saccone, S Saccone, S Saccone, S Saccone, Sabrina Tosi, Salvatore Saccone, SW Scherer, T Cremer, TS Furey, U Francke, WA Bickmore   +53 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

IGH@ translocations co-exist with other primary rearrangements in B-cell precursor acute lymphoblastic leukemia

Haematologica, 2014
Primary established genetic abnormalities in B-cell precursor acute lymphoblastic leukemia include high hyperdiploidy (51–65 chromosomes), the translocations t(12;21)(p13;q22)/ETV6-RUNX1 fusion and t(9;22)(q34;q11)/BCR-ABL1 fusion, MLL rearrangements and
Sally J. Jeffries, Lisa Jones, Christine J. Harrison, Lisa J. Russell   +3 more
doaj   +1 more source

Structural Variation and 3D Genome‐Driven DNA/RNA Methylation Divergence Contributing to Cotton Fiber Domestication

Advanced Science, EarlyView.
These findings elucidated the crucial role of the “SVs‐3D genome remodeling‐epigenetic modifications‐gene expression” cascade regulatory network in cotton fiber domestication, offering both a theoretical foundation and genetic resources for molecular design breeding in fiber crops.
Lei Shao, Shangkun Jin, Haojie Jiang, Tianyu Pan, Zesheng Rui, Xiaowen Shi, Ting Zhao, Zhanfeng Si, Xueying Guan, Yan Hu, Tianzhen Zhang, Lei Fang   +11 more
wiley   +1 more source