Results 31 to 40 of about 3,184,218 (349)
Adenoid cystic carcinoma: emerging role of translocations and gene fusions. [PDF]
, 2016 Adenoid cystic carcinoma (ACC), the second most common salivary gland malignancy, is notorious for poor prognosis, which reflects the propensity of ACC to progress to clinically advanced metastatic disease.
Brait, Mariana +5 more
core +3 more sources
Major translocations in genetic counselling
Asian Pacific Journal of Reproduction, 2012 Abstract Objective To review major chromosome translocation, with special regard to the clinical differences between balanced and unbalanced, as well as de novo and inherited cases. Methods The authors have included cases of major chromosome translocations detected during a 20-year period.
Ákos Csaba +4 more
openaire +2 more sources
Sinonasal FUS-ERG-Rearranged Ewing’s Sarcoma Mimicking Glomangiopericytoma
Case Reports in Oncology, 2020 Ewing’s sarcoma is a rare and aggressive tumor that typically arises in the long bones of the extremities. It belongs in the family of small round blue cell tumors and is characterized immunohistochemically by diffuse CD99 expression and molecularly by ...
Maggie Zhou +3 more
doaj +1 more source
Translational Psychiatry, 2021 A balanced t(1;11) translocation that directly disrupts DISC1 is linked to schizophrenia and affective disorders. We previously showed that a mutant mouse, named Der1, recapitulates the effect of the translocation upon DISC1 expression.
Marion Bonneau +25 more
doaj +1 more source
Drosophila Parkin requires PINK1 for mitochondrial translocation and ubiquitinates Mitofusin [PDF]
, 2010 Loss of the E3 ubiquitin ligase Parkin causes early onset Parkinson's disease, a neurodegenerative disorder of unknown etiology. Parkin has been linked to multiple cellular processes including protein degradation, mitochondrial homeostasis, and autophagy;
A. J. Whitworth +28 more
core +2 more sources
Human Reproduction, 2013 STUDY QUESTION Is preimplantation genetic diagnosis (PGD) for translocation carriers more effective when done with a single-nucleotide polymorphism (SNP) array using trophectoderm (TE) biopsy and frozen embryo transfer (FET) compared with traditional PGD
Yueqiu Tan +10 more
semanticscholar +1 more source
Crop Journal, 2016 Nearly half of the world population suffers from micronutrient malnutrition, particularly Zn deficiency. It is important to understand genetic variation for uptake and translocation behaviors of Zn in relevant crop species to increase Zn concentration in
Ramegowda Yamunarani +4 more
doaj +1 more source
Preimplantation genetic diagnosis for an insertional translocation carrier [PDF]
Human Reproduction, 2004 While preimplantation genetic diagnosis (PGD) is well established for carriers of reciprocal terminal translocations, reports on PGD for insertional translocation carriers are lacking. Here, we report on the PGD of an insertional translocation carrier with karyotype 46,XX,ins(14;2)(q21;q31q35).
Cindy Melotte +4 more
openaire +3 more sources
Molecular Cytogenetics, 2018 Background The aim of Preimplantation Genetic Diagnosis (PGD) on embryos produced in vitro is to identify the embryos without genetic or chromosomal defect from those embryos that will develop the genetic disease or are chromosomally abnormal. In case of
Sandrine Chamayou +4 more
doaj +1 more source
Frontiers in Pediatrics, 2020 11q23/MLL rearrangements are frequently detected in pediatric acute myeloid leukemia. The analysis of their clinical significance is difficult because of the multitude of translocation fusion partners and their low frequency. The presence of t(10;11)(p12;
Teofila Ksiazek +39 more
doaj +1 more source