Results 31 to 40 of about 3,324,185 (335)
PLoS ONE, 2015 Background Established causes of recurrent pregnancy loss (RPL) include antiphospholipid syndrome, uterine anomalies, parental chromosomal abnormalities, particularly translocations, and abnormal embryonic karyotypes.
S. Ikuma +5 more
semanticscholar +1 more source
Mitochondrial protein import [PDF]
, 1994 The transport of nuclear-encoded proteins from the cytosol into mitochondria is mediated by targeting (signal) sequences present on precursor forms.
Neupert, Walter, Schwarz, Elisabeth
core +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
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
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.
József Gábor Joó +4 more
openaire +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).
C, Melotte +4 more
openaire +2 more sources
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
A dual origin for Bcr-Abl gene translocation/fusion as dynamics of synergism of the hematopoietic stem cell and hemangioblast in chronic myeloid leukemia [PDF]
, 2015 Contextual BCR-ABL tyrosine kinase over-activity determines in formulated fashion the emergence of proliferation and anti-apoptosis that arise largely as derived phenomena of otherwise homeostatic mechanisms of the c-ABL gene within hematopoietic ...
Agius, Lawrence M.
core +1 more source
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