P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases

P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases

Saved in:

Bibliographic Details
Main Authors:	Revathi Rajkumar, Anjana Chandrasekhar, Zinayida Schlachetzki, Samin Sajan, Brittany Thomas, Becky Milewski, Joshua Lowry, Richard Wang, Jon Albay, Danny Miller, Kaitlyn Burns, Laura Davis-Keppen, Nora Urraca, Kerri Bosfield, Katherine Cung, Erin Venti, Ryan Taft, Denise Perry, Akanchha Kesari
Format:	Article
Language:	English
Published:	Elsevier 2025-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774425011859
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencing
by: Joshua Lowry, et al.
Published: (2025-01-01)

P707: Systematic reanalysis of clinical genome sequencing data in a cohort of acute care patients
by: Aditi Chawla, et al.
Published: (2025-01-01)

About the Reading Circle of the Siberian Old Believers on the Example of the Collection B-777
by: V. A. Esipova
Published: (2023-10-01)

Involvement of transposable elements in neurogenesis
by: R. N. Mustafin, et al.
Published: (2020-04-01)

Transposable element landscapes in aging Drosophila.
by: Nachen Yang, et al.
Published: (2022-03-01)

Antitumor effect of the Newcastle disease virus strain NDV/Altai/pigeon/777/2010 on a model of solid Lewis carcinoma
by: Yu. I. Karkavin, et al.
Published: (2024-10-01)

Analysis of lipidomics profile of Brassica napus hybrid ‘Fangyou 777’ and its parents during ripening stages based on UPLC-MS/MS
by: Tao Zheng, et al.
Published: (2025-02-01)

Tempo and Mode of Transposable Element Activity in Drosophila.
by: Robert Kofler, et al.
Published: (2015-07-01)

A Transposed Scrotal Flap in Hypospadias Repair
by: Dr. I. K. Dhawan, et al.
Published: (1972-07-01)

Transposable elements as genome regulators in normal and malignant haematopoiesis
by: Dmitry Prokopov, et al.
Published: (2025-05-01)

Effects of <i>Bacillus amyloliquefaciens</i> FD777 and <i>Macleaya cordata</i> Extract on Performance, Immunity, Gastrointestinal System Microbiome, and Profitability in Holstein Calves
by: Mehmet Küçükoflaz, et al.
Published: (2025-01-01)

Exploring transposable elements: new horizons in cancer diagnostics and therapeutics
by: Ahlam Chaaban, et al.
Published: (2025-07-01)

The role of transposable elements in the ecological morphogenesis under the influence of stress
by: R. N. Mustafin, et al.
Published: (2019-07-01)

Widespread imprinting of transposable elements and variable genes in the maize endosperm.
by: Sarah N Anderson, et al.
Published: (2021-04-01)

Dysregulation of transposable elements and PIWI-interacting RNAs in myelodysplastic neoplasms
by: Zdenek Krejcik, et al.
Published: (2025-01-01)

Zygotic activation of transposable elements during zebrafish early embryogenesis
by: Bo Li, et al.
Published: (2025-04-01)

The effect of transposable element insertions on gene expression evolution in rodents.
by: Vini Pereira, et al.
Published: (2009-01-01)

Transposed Maxillary Canines: Narrative Review with Clinical Case Report
by: Teresa Pinho, et al.
Published: (2025-06-01)

Petersen-star networks modeled by optical transpose interconnection system
by: Jung-hyun Seo, et al.
Published: (2021-11-01)

Binding of NF-Y to transposable elements in mouse and human cells
by: Mirko Ronzio, et al.
Published: (2025-05-01)

Transposable element expression is associated with sex chromosome number in humans.
by: Jordan Teoli, et al.
Published: (2025-06-01)

The human embryo selection arena is associated with transposable element activity.
by: Anna Osnato, et al.
Published: (2023-06-01)

Relationship of transposable elements with long non-coding RNAs and peptides in carcinogenesis
by: R. N. Mustafin
Published: (2023-12-01)

Genomic characterization of repetitive DNA and transposable elements in Dyckia (Pitcairnioideae) species
by: João Victor da Silva Rabelo-Araujo, et al.
Published: (2025-07-01)

Prediction of transposable element derived enhancers using chromatin modification profiles.
by: Ahsan Huda, et al.
Published: (2011-01-01)

The impact of insertion bias into piRNA clusters on the invasion of transposable elements
by: Shashank Pritam, et al.
Published: (2025-08-01)

Relationship of MicroRNAs with Transposable Elements in the Type 1 Diabetes Development
by: R. N. Mustafin
Published: (2024-01-01)

Transposable Elements as Regulators of Gene Expression, Evolutionary Forces, and Disease Contributors
by: Francis Ebuara, et al.
Published: (2025-01-01)

Transposable Element Is Predictive of Chemotherapy- and Immunotherapy-Related Overall Survival in Glioma
by: Bi Peng, et al.
Published: (2025-05-01)

Double-edged sword: The evolutionary consequences of the epigenetic silencing of transposable elements.
by: Jae Young Choi, et al.
Published: (2020-07-01)

THE ACTIVITY OF TRANSPOSING DIRECTIVE 2014/94/EU OF THE EUROPEAN PARLIAMENT AND COUNCIL OF 22 OCTOBER 2014 ON THE DEPLOYMENT OF ALTERNATIVE FUELS INFRASTRUCTURE. THE POST-TRANSPOSING ATTRIBUTIONS OF THE ROMANIAN ENERGY REGULATORY AUTHORITY
by: Ionela-Alina ZORZOANĂ
Published: (2019-05-01)

Allelic and Genotype Frequencies of CYP2B6∗2 (64C > T) and CYP2B6∗3 (777C > A) in Three Dominant Ethnicities of the Iranian Population
by: Armin Khavandegar, et al.
Published: (2023-01-01)

Transposable Elements in the Organization and Diversification of the Genome of Aegilops speltoides Tausch (Poaceae, Triticeae)
by: Olga Raskina
Published: (2018-01-01)

Limited impact of the siRNA pathway on transposable element expression in Aedes aegypti
by: Alexander Bergman, et al.
Published: (2025-05-01)

A hypothesis about interrelations of epigenetic factors and transposable elements in memory formation
by: R. N. Mustafin
Published: (2024-09-01)

Transposable elements may enhance antiviral resistance in HIV-1 elite controllers
by: Manvendra Singh, et al.
Published: (2025-02-01)

An Improved Convolutional Neural Networks: Quantum Pseudo-Transposed Convolutional Neural Networks
by: Li Hai, et al.
Published: (2025-01-01)

Particular sequence characteristics induce bias in the detection of polymorphic transposable element insertions
by: Verneret, Marie, et al.
Published: (2025-06-01)

GenomeDelta: detecting recent transposable element invasions without repeat library
by: Riccardo Pianezza, et al.
Published: (2024-12-01)

MicroRNA-Dependent Transcriptional Silencing of Transposable Elements in Drosophila Follicle Cells.
by: Bruno Mugat, et al.
Published: (2015-05-01)