Results 31 to 40 of about 451,700 (244)
Objective: We present an infertile male who was incidentally detected to have Klinefelter syndrome, a balanced reciprocal translocation of t(4; 17) (q12; q11.2) and an AZFa sY86 deletion. We review the literature and discuss the significance of 47,XXY, t(
Fang-Tzu Wu +8 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]
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
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
Beyond self-eating: The control of nonautophagic functions and signaling pathways by autophagy-related proteins. [PDF]
The identification of conserved autophagy-related proteins (ATGs) that mediate bulk degradation of cytosolic material laid the foundation for breakthroughs linking autophagy to a litany of physiological processes and disease conditions.
Cadwell, Ken, Debnath, Jayanta
core +1 more source
Genetic counseling of mosaicism for balanced translocation with a normal cell line at amniocentesis is not difficult because most of the reported cases have normal phenotypes.
Chih-Ping Chen
doaj +1 more source
Scientific evidence does not support the translocation of guanacos in Argentina
The Argentinian Ministry of Environment has approved the translocation of 45 guanacos from Southern Patagonia to the Pampas region, a distance of 1500 km, as the initial phase toward future translocations into a National Park located in the Chaco region,
Ulises Balza +4 more
doaj +1 more source
Genetic effects of Agropyron cristatum 2P chromosome translocation fragments in a wheat background
Agropyron cristatum (2n=4x=28, PPPP) is a wild relative of common wheat which contains a large number of desirable genes that can be exploited for wheat improvement. Wheat–A.
Shi-rui XU +9 more
doaj +1 more source
Objective: The presence of reciprocal and Robertsonian chromosomal rearrangement is often related to recurrent miscarriage. Using preimplantation genetic diagnosis, the abortion rate can be decreased. Cases treated at our center were reviewed.
Chun-Kai Chen +9 more
doaj +1 more source
Pre-B-cell acute lymphoblastic leukemia with bulk extramedullary disease and chromosome 22 (EWSR1) rearrangement masquerading as Ewing sarcoma [PDF]
We report a 2-year-old female with a subcutaneous tumor who was initially misdiagnosed as suffering from Ewing sarcoma with a positive EWSR1 rearrangement and EWS/FLI1 transcript.
Jakovljević, Gordana +6 more
core +1 more source
From omics to AI—mapping the pathogenic pathways in type 2 diabetes
Integrating multi‐omics data with AI‐based modelling (unsupervised and supervised machine learning) identify optimal patient clusters, informing AI‐driven accurate risk stratification. Digital twins simulate individual trajectories in real time, guiding precision medicine by matching patients to targeted therapies.
Siobhán O'Sullivan +2 more
wiley +1 more source

