Results 71 to 80 of about 42,496 (156)

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

DNA polymerases δ and λ cooperate in repairing double-strand breaks by microhomology-mediated end-joining in Saccharomyces cerevisiae [PDF]

, 2015
Maintenance of genome stability is carried out by a suite of DNA repair pathways that ensure the repair of damaged DNA and faithful replication of the genome.
Meyer, Damon, Heyer, Wolf-Dietrich, Fu, Becky Xu Hua   +2 more
core   +1 more source

Genomic characterization of IDH-mutant astrocytoma progression to grade 4 in the treatment setting

Acta Neuropathologica Communications, 2023
As the progression of low-grade diffuse astrocytomas into grade 4 tumors significantly impacts patient prognosis, a better understanding of this process is of paramount importance for improved patient care. In this project, we analyzed matched IDH-mutant
Kirsi J. Rautajoki, Serafiina Jaatinen, Anja Hartewig, Aliisa M. Tiihonen, Matti Annala, Iida Salonen, Masi Valkonen, Vili Simola, Elisa M. Vuorinen, Anni Kivinen, Minna J. Rauhala, Riikka Nurminen, Kendra K. Maass, Sirpa-Liisa Lahtela, Arja Jukkola, Olli Yli-Harja, Pauli Helén, Kristian W. Pajtler, Pekka Ruusuvuori, Joonas Haapasalo, Wei Zhang, Hannu Haapasalo, Matti Nykter   +22 more
doaj   +1 more source

Compromised DNA replication in gut cells underlies sensitivity to genotoxic stress in the tardigrade Hypsibius exemplaris

The FEBS Journal, EarlyView.
DNA damage in the tardigrade Hypsibius exemplaris elicits distinct cellular outcomes depending on replication status. While non‐replicating cells tolerate genotoxic stress, constitutively replicating cells undergo irreversible replication failure upon DNA damage, leading to loss of tissue homeostasis, fat depletion, sterility, and organismal death ...
Gonzalo Quiroga‐Artigas, Pauline Fontanié, Benjamin Lacroix, Maria Dolores Molina, María Moriel‐Carretero   +4 more
wiley   +1 more source

Ionizing Radiation Induces Microhomology-Mediated End Joiningin transin Yeast and Mammalian Cells [PDF]

Radiation Research, 2009
DNA double-strand breaks repaired through nonhomologous end joining require no extended sequence homology as a template for the repair. A subset of end-joining events, termed microhomology-mediated end joining, occur between a few base pairs of homology, and such pathways have been implicated in different human cancers and genetic diseases.
Zorica, Scuric, Cecilia Y, Chan, Kurt, Hafer, Robert H, Schiestl   +3 more
openaire   +2 more sources

Regulation of Error-Prone DNA Double-Strand Break Repair and Its Impact on Genome Evolution

Cells, 2020
Double-strand breaks are one of the most deleterious DNA lesions. Their repair via error-prone mechanisms can promote mutagenesis, loss of genetic information, and deregulation of the genome.
Terrence Hanscom, Mitch McVey
doaj   +1 more source

ErCas12a and T5exo-ErCas12a Mediate Simple and Efficient Genome Editing in Zebrafish

Biology, 2022
In zebrafish, RNA-guided endonucleases such as Cas9 have enabled straightforward gene knockout and the construction of reporter lines or conditional alleles via targeted knockin strategies. However, the performance of another commonly used CRISPR system,
Bingzhou Han, Yage Zhang, Yang Zhou, Biao Zhang, Christopher J. Krueger, Xuetong Bi, Zuoyan Zhu, Xiangjun Tong, Bo Zhang   +8 more
doaj   +1 more source

Gene Editing for Haemophilia—The Next Frontier

Haemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti, Gregory A. Newby, Sundar Selvaraj, Steven W. Pipe   +3 more
wiley   +1 more source

Microhomology-mediated end joining is the principal mediator of double-strand break repair during mitochondrial DNA lesions [PDF]

, 2016
Mitochondrial DNA (mtDNA) deletions are associated with various mitochondrial disorders. The deletions identified in humans are flanked by short, directly repeated mitochondrial DNA sequences; however, the mechanism of such DNA rearrangements has yet to ...
Choudhary, Bibha, Raghavan, Sathees C., Sebastian, Robin, Dahal, Sumedha, Babu, Ravi K., Raghavan, Sathees C, Babu, Ravi K, Tadi, Satish Kumar   +7 more
core   +1 more source

Arabidopsis DNA repair mutants can integrate Agrobacterium T‐DNA into the plant genome

New Phytologist, EarlyView.
Transient (a) and stable (b) transformation of Arabidopsis thaliana DNA repair/recombination mutants grown under normal light conditions. Summary Agrobacterium transfer DNA (T‐DNA) integration is mediated by plant DNA repair proteins of various nonhomologous end‐joining (NHEJ) pathways.
Lan‐Ying Lee, Yunjia Shen, Yooyoung Kim, Ayako Nishizawa‐Yokoi, Hiroaki Saika, Demi White, Wenying Liao, Stanton B. Gelvin   +7 more
wiley   +1 more source