Results 141 to 150 of about 92,178 (328)

DNA-PKcs suppresses illegitimate chromosome rearrangements

Nucleic Acids Research
Abstract Two DNA repair pathways, non-homologous end joining (NHEJ) and alternative end joining (A-EJ), are involved in V(D)J recombination and chromosome translocation. Previous studies reported distinct repair mechanisms for chromosome translocation, with NHEJ involved in humans and A-EJ in mice predominantly.
Jinglong Wang, Cheyenne A Sadeghi, Richard L Frock   +2 more
openaire   +2 more sources

The Influence of Drosophila Spire and Myosin V During Mid‐Oogenesis Is Independent of Their Direct Interaction

Cytoskeleton, EarlyView.
ABSTRACT Cooperativity between cytoskeletal proteins is crucial for spatiotemporal coordination in biological processes, like oogenesis. In mammalian and Drosophila oogenesis, proper assembly and function of actin networks require coordination between actin assembly factors Spire and formins, as well as actin‐associated proteins like myosins and Rab ...
Joseph Y. Ong, Hannah M. Bailey, Emma Carley, Michelle Panzica, Merin Rixen, Neil Billington, Rong Liu, Margot E. Quinlan   +7 more
wiley   +1 more source

Chromosomal rearrangements and transposable elements in locally adapted island Drosophila [PDF]

, 2021
Brandon A. Turner, Theresa R. Miorin, Nicholas B. Stewart, Robert W. Reid, Cathy C. Moore, Rebekah L. Rogers   +5 more
openalex   +1 more source

Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Our aim was to investigate the advantages of exome sequencing versus panel testing for patients with unexplained seizures. Methods We reviewed the diagnostic outcomes of exome sequencing by a commercial genetics laboratory for more than 16 000 individuals with a clinical history of seizures or suspected seizures.
Michelle M. Morrow, Elizabeth Butler, Melanie P. Napier, Lindsay Havens‐Dyer, Annabelle Tuttle, Patricia C. Lopes, Britt A. Johnson, Paul Kruszka, Kirsty McWalter   +8 more
wiley   +1 more source

Balanced chromosomal rearrangement in a partner revealed after Preimplantation Genetic Testing for Aneuploidies (PGT-A). [PDF]

JBRA Assist Reprod, 2023
Ceschin I, Ali TM, Carvalho CV, Martins C, Bos-Mikich A, Andrade GM, Frantz N.   +6 more
europepmc   +1 more source

PGD for a complex chromosomal rearrangement by array comparative genomic hybridization [PDF]

, 2011
Evelyne Vanneste, Cindy Melotte, Thierry Voet, Caroline Robberecht, Sophie Debrock, A. Pexsters, C. Staessen, Carla Tomassetti, Eric Legius, Thomas D’Hooghe, Joris Vermeesch   +10 more
openalex   +1 more source

Imaging Flow Cytometry Detection of Cytogenetic Abnormalities in Circulating CD34+ Cells Predicts Leukemic Transformation in Myelofibrosis

Cytometry Part A, EarlyView.
ABSTRACT Myelofibrosis is a myeloproliferative neoplasm with potential to transform to acute myeloid leukemia. This evolution is unpredictable and current assays lack the sensitivity and applicability needed to predict this transformation. While population‐level data utilizing comprehensive genomic profiling can identify subgroups at higher risk of ...
Ruby M. Hamilton, Ryan J. Collinson, Henry Y. Hui, Zi Yun Ng, Hun S. Chuah, Malcolm Webb, Belinda B. Guo, Wendy N. Erber, Kathy A. Fuller   +8 more
wiley   +1 more source

The Rad1-Rad10 Complex Promotes the Production of Gross Chromosomal Rearrangements From Spontaneous DNA Damage in Saccharomyces cerevisiae [PDF]

, 2005
Ji‐Young Hwang, Stephanie Smith, Kyungjae Myung   +2 more
openalex   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome. [PDF]

Int J Mol Sci, 2023
Marakhonov AV, Vasilyeva TA, Minzhenkova ME, Sukhanova NV, Sparber PA, Andreeva NA, Teleshova MV, Baybagisova FK, Shilova NV, Kutsev SI, Zinchenko RA.   +10 more
europepmc   +1 more source