Results 51 to 60 of about 982,148 (390)

Analysis of cell mutation types of colorectal neuroendocrine tumors [PDF]

open access: yesJichu yixue yu linchuang
Objective To investigate the mutation types of colorectal neuroendocrine tumors(NETs) and better understand the pathogenesis of colorectal nets. Methods Patients undergoing colorectal NETs surgery were recruited, colorectal NETs and corresponding ...
WANG Tingting, GUO Dan, LU Junyang, XU Lai, DONG Haitao, LIN Dianxin, XIAO Yi
doaj   +1 more source

BAC-FISH assays delineate complex chromosomal rearrangements in a case of post-Chernobyl childhood thyroid cancer [PDF]

open access: yes, 2009
Structural chromosome aberrations are known hallmarks of many solid tumors. In the papillary form of thyroid cancer (PTC), for example, activation of the receptor tyrosine kinase (RTK) genes, RET and neurotrophic tyrosine kinase receptor type I (NTRK1)
Baumgartner, Adolf   +6 more
core   +2 more sources

High-Risk Microgranular Acute Promyelocytic Leukemia with a Five-Way Complex Translocation Involving PML-RARA

open access: yesCase Reports in Hematology, 2015
Acute promyelocytic leukemia (APL) is classically characterized by chromosomal translocation (15;17), resulting in the PML-RARA fusion protein leading to disease. Here, we present a case of a 50-year-old man who presented with signs and symptoms of acute
Benjamin Powers   +4 more
doaj   +1 more source

An update of preimplantation genetic diagnosis in gene diseases, chromosomal translocation, and aneuploidy screening

open access: yesClinical and Experimental Reproductive Medicine, 2011
Preimplantation genetic diagnosis (PGD) is gradually widely used in prevention of gene diseases and chromosomal abnormalities. Much improvement has been achieved in biopsy technique and molecular diagnosis.
Li-Jung Chang   +6 more
semanticscholar   +1 more source

Making tau amyloid models in vitro: a crucial and underestimated challenge

open access: yesFEBS Letters, EarlyView.
This review highlights the challenges of producing in vitro amyloid assemblies of the tau protein. We review how accurately the existing protocols mimic tau deposits found in the brain of patients affected with tauopathies. We discuss the important properties that should be considered when forming amyloids and the benchmarks that should be used to ...
Julien Broc, Clara Piersson, Yann Fichou
wiley   +1 more source

An infant with trisomy 9p and partial trisomy 12p derived from maternal balanced translocation: A case report and literature review

open access: yesJournal of International Medical Research
We present here, a case of a neonate with an unbalanced chromosomal translocation due to a maternal chromosomal translocation carriage that resulted in the presence of trisomy 9p combined with a partial trisomy 12p. Karyotype analysis was performed using
Shengjin Ming   +5 more
doaj   +1 more source

The Origin and Evolution of Chromosomal Reciprocal Translocation in Quasipaa boulengeri (Anura, Dicroglossidae)

open access: yesFrontiers in Genetics, 2020
Chromosomal rearrangements have long fascinated evolutionary biologists for being widely implicated in causing genetic differentiation. Suppressed recombination has been demonstrated in various species with inversion; however, there is controversy over ...
Yun Xia   +6 more
doaj   +1 more source

Alternative end-joining is suppressed by the canonical NHEJ component Xrcc4/ligase IV during chromosomal translocation formation

open access: yesNature Structural &Molecular Biology, 2010
Chromosomal translocations in hematologic and mesenchymal tumors form overwhelmingly by nonhomologous end-joining (NHEJ). Canonical NHEJ, essential for the repair of radiation-induced and some programmed double-strand breaks (DSBs), requires the Xrcc4 ...
Deni̇z Şi̇mşek, M. Jasin
semanticscholar   +1 more source

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]

open access: yes, 2014
We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S   +4 more
core   +1 more source

Causes of oncogenic chromosomal translocation [PDF]

open access: yesTrends in Genetics, 2006
Non-random chromosomal translocations are frequently associated with a variety of cancers, particularly hematologic malignancies and childhood sarcomas. In addition to their diagnostic utility, chromosomal translocations are increasingly being used in the clinic to guide therapeutic decisions.
openaire   +3 more sources

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