Results 51 to 60 of about 425 (140)

Insight into the Molecular Basis Underlying Chromothripsis

, 2022
Chromoanagenesis constitutes a group of events that arise from single cellular events during early development. This particular class of complex rearrangements is a newfound occurrence that may lead to chaotic and complex genomic realignments.
Borys Styka, Katarzyna Ostapińska, Monika Lejman   +2 more
core   +1 more source

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, Volume 108, Issue 6, Page 731-741, December 2025.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

Unique Genetic and Epigenetic Alterations in Glioblastoma Long‐Term Survivors: Insights From Two Clinical Cases

Journal of Cellular and Molecular Medicine, Volume 29, Issue 20, October 2025.
ABSTRACT The biological mechanisms driving the long survival in glioblastoma (GBM). Five‐year long‐term survival (LTS) and 10‐year survival very long‐term survival (VLTS) remain significantly understudied. Here we molecularly detailed two cases. AR10‐046 (VLTS) was affected by a giant cell‐GBM, classified as the pedHGG_RTK1a subtype according to the ...
Elena Anghileri, Evelina Miele, Sara Patrizi, Sabina Barresi, Elisabetta Lazzarini, Luisa Maddaloni, Monica Patanè, Lucia Pedace, Rosina Paterra, Antonio Silvani, Franco Locatelli, Stefano Indraccolo, Bianca Pollo   +12 more
wiley   +1 more source

Integration of Optical Genome Mapping in the Cytogenomic and Molecular Work‐Up of Hematological Malignancies: Expert Recommendations From the International Consortium for Optical Genome Mapping

American Journal of Hematology, Volume 100, Issue 6, Page 1029-1048, June 2025.
ABSTRACT The latest updates to the classification of hematolymphoid malignancies using the World Health Organization (WHO, 5th ed.) and ICC (International Consensus Classification) criteria highlight the critical need for comprehensive and precise cytogenomic data for diagnosis, prognostication, and treatment.
Rashmi Kanagal‐Shamanna, Anna Puiggros, Isabel Granada, Gordana Raca, Katrina Rack, Mar Mallo, Barbara Dewaele, Adam C. Smith, Yassmine Akkari, Brynn Levy, Robert P. Hasserjian, Adela Cisneros, Marta Salido, Guillermo Garcia‐Manero, Hui Yang, M. Anwar Iqbal, Ravindra Kolhe, Francesc Solé, Blanca Espinet   +18 more
wiley   +1 more source

Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping

Genes, Chromosomes and Cancer, Volume 64, Issue 1, January 2025.
ABSTRACT Myelodysplastic neoplasia with complex karyotype (CK‐MDS) poses significant clinical challenges and is associated with poor survival. Detection of structural variants (SVs) is crucial for diagnosis, prognostication, and treatment decision‐making in MDS.
Andriana Valkama, Sandra Vorimo, Anna Tervasmäki, Hannele Räsänen, Eeva‐Riitta Savolainen, Katri Pylkäs, Tuomo Mantere   +6 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

Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells

BMC Medical Genomics, 2019
Background The co-occurrence of multiple de novo copy number variations (CNVs) is a rare phenomenon in the human genome. Recently, an “organismal CNV mutator phenotype” has been reported to result in transient genomic instability introducing multiple de ...
Atsushi Hattori, Kohji Okamura, Yumiko Terada, Rika Tanaka, Yuko Katoh-Fukui, Yoichi Matsubara, Keiko Matsubara, Masayo Kagami, Reiko Horikawa, Maki Fukami   +9 more
doaj   +1 more source

Genomic structural variants analysis in leukemia by a novel cytogenetic technique: Optical genome mapping

Cancer Science, Volume 115, Issue 11, Page 3543-3551, November 2024.
Optical genome mapping is a novel and powerful technique that enables the refinement of structural variant identification. The application of this technique in leukemia is able to reveal more details about the genetic aberrations, compared with standard cytogenetic techniques.
Song Lu, Kefu Liu, Di Wang, Yuan Ye, Zhiping Jiang, Yunhua Gao   +5 more
wiley   +1 more source

Plausible mechanisms in malignisation of non-habit related chronic nonhealing traumatic ulcers of oral cavity

Indian Journal of Pathology and Microbiology
Chronic nonhealing ulcers of the oral mucosa and lateral tongue, in particular, can transform into invasive oral squamous cell carcinoma (OSCC). Sometimes these ulcers do not heal even after the removal of the etiological agent that actually initiated ...
Deepak Pandiar, Reshma Poothakulath Krishnan   +1 more
doaj   +1 more source

The ancestral karyotype of the Heliantheae Alliance, herbicide resistance, and human allergens: Insights from the genomes of common and giant ragweed

The Plant Genome, Volume 17, Issue 2, June 2024.
Abstract Ambrosia artemisiifolia and Ambrosia trifida (Asteraceae) are important pest species and the two greatest sources of aeroallergens globally. Here, we took advantage of a hybrid to simplify genome assembly and present chromosome‐level assemblies for both species.
Martin Laforest, Sara L. Martin, Katherine Bisaillon, Brahim Soufiane, Sydney Meloche, François J. Tardif, Eric Page   +6 more
wiley   +1 more source