UBE2QL1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene [PDF]
, 2013 Investigation of rare familial forms of renal cell carcinoma (RCC) has led to the identification of genes such as VHL and MET that are also implicated in the pathogenesis of sporadic RCC. In order to identify a novel candidate renal tumor suppressor gene,
Banks, RE +12 more
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The dynamic right-to-left translocation of Cerl2 is involved in the regulation and termination of nodal activity in the mouse node [PDF]
, 2013 The determination of left-right body asymmetry in mouse embryos depends on the interplay of molecules In a highly sensitive structure, the node. Here, we show that the localization of Cerl2 protein does not correlate to its mRNA expression pattern, from ...
Belo, Jose Antonio +6 more
core +10 more sources
A Case of Partial Trisomy of 10q and Partial Monosomy of 6p Resulting from Maternal t(6;10) (p23;q24) [PDF]
Journal of Clinical and Diagnostic Research, 2021 Chromosomal analysis is practiced routinely since long time in congenital malformations to find out structural and or numerical chromosomal aberrations.
ANJALI SATYEN SABNIS +2 more
doaj +1 more source
Synthesis and evaluation of designed PKC modulators for enhanced cancer immunotherapy. [PDF]
, 2020 Bryostatin 1 is a marine natural product under investigation for HIV/AIDS eradication, the treatment of neurological disorders, and enhanced CAR T/NK cell immunotherapy.
Hardman, Clayton +8 more
core
Argon protects against hypoxic-ischemic brain injury in neonatal rats through activation of Nuclear factor (erythroid-derived 2)-like 2 [PDF]
, 2016 Perinatal hypoxic ischaemic encephalopathy (HIE) has a high mortality rate with neuropsychological impairment. This study investigated the neuroprotective effects of argon against neonatal hypoxic-ischaemic brain injury.
Ciechanowicz, S +6 more
core +1 more source
Особенности мейотической сегрегации хромосом 13 и 14 у гетерозиготных носителей робертсоновской транслокации der(13;14)(q10;q10) [PDF]
, 2014 Представлены результаты исследования особенностей мейотической сегрегации хромосом 13 и 14 в сперматозоидах пяти гетерозиготных носителей робертсоновской транслокации der(13;14) методом флюоресцентной гибридизации in situ.
Билько, Н.М. +3 more
core +2 more sources
Driven translocation of a polymer: role of pore friction and crowding
, 2014 Force-driven translocation of a macromolecule through a nanopore is investigated by taking into account the monomer-pore friction as well as the "crowding" of monomers on the {\it trans} - side of the membrane which counterbalance the driving force ...
Dubbeldam, Johan L. A. +2 more
core +1 more source
Microdeletion syndromes, balanced translocations, and gene mapping. [PDF]
Journal of Medical Genetics, 1988 High resolution prometaphase chromosome banding has allowed the detection of discrete chromosome aberrations which escaped earlier metaphase examinations. Consistent tiny deletions have been detected in some well established malformation syndromes: an interstitial deletion in 15q11/12 in the majority of patients with the Prader-Willi syndrome and in a ...
openaire +2 more sources
Case Reports in Genetics, 2012 We describe a familial pattern of gonosomal-autosomal translocation between the X and 18 chromosomes, balanced and unbalanced forms, in male and female siblings. The proposita was consulted for hypergonadotropic hypogonadism.
Attila Szvetko +6 more
doaj +1 more source
BMC Medical Genomics, 2017 Background Preimplantation genetic diagnosis (PGD) is now widely used to select embryos free of chromosomal copy number variations (CNV) from chromosome balanced translocation carriers.
Shuo Zhang +9 more
doaj +1 more source