Results 31 to 40 of about 451,700 (244)

Concomitance of 47,XXY, a balanced reciprocal translocation of t(4;17)(q12;q11.2) encompassing SPINK2 at 4q12 and NOS at 17q11.2 and an AZFa sY86 deletion in an infertile male

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2023
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]

open access: yes, 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

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

Beyond self-eating: The control of nonautophagic functions and signaling pathways by autophagy-related proteins. [PDF]

open access: yes, 2017
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 or unbalanced translocation with a normal cell line at amniocentesis

open access: yesTaiwanese Journal of Obstetrics & Gynecology
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

open access: yesConservation Science and Practice, 2023
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

open access: yesJournal of Integrative Agriculture, 2023
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

Preimplantation genetic diagnosis by fluorescence in situ hybridization of reciprocal and Robertsonian translocations

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2014
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]

open access: yes, 2010
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

open access: yesFEBS Letters, EarlyView.
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

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