Results 81 to 90 of about 1,000,004 (376)

Asthenozoospermia in a patient with reciprocal translocation t(12;15): A case report

Urology Case Reports
Reciprocal translocation is a chromosomal aberration where fragments are exchanged between two non-homologous chromosomes. Its prevalence is estimated at 0.16–0.2 % in the general population, rising to 1.3 % among infertile men.
Tea Mladenić, Anita Barišić, Ivan Vukelić, Antun Gršković, Nada Starčević Čizmarević, Jadranka Vraneković   +5 more
doaj   +1 more source

A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones [PDF]

, 1993
The identification of marker chromosomes in clinical and tumor cytogenetics by chromosome banding analysis can create problems. In this study, we present a strategy to define minute chromosomal rearrangements by multicolor fluorescence in situ ...
A Kallioniemi, Anna Jauch, B Dutrillaux, C Lengauer, C Lengauer, CC Collins, Christoph Lengauer, D Pinkel, Detlev Schindler, DH Ledbetter, DH Ledbetter, GD Johnson, H Telenius, Harold C. Riethman, Helen Donis-Keller, J Grouchy de, J Sambrook, J Wiegant, JG Dauwerse, JS Heslop-Harrison, JW IJdo, Michael R. Speicher, P Lichter, P Lichter, PM Nederlof, PM Nederlof, S Manoir du, Susanne Popp, T Ried, T Ried, T Ried, Thomas Cremer   +31 more
core   +1 more source

A Spatially Resolved View on the Aging Substantia nigra: An Exploratory Proteomic Study

Advanced Biology, EarlyView.
Although aging is the most important risk factor for several neurodegenerative diseases, the molecular effects of physiological aging are still understudied. By applying spatially‐resolved proteomic analyses of the human substantia nigra pars compacta, alterations in vesicular trafficking and mitochondrial proteins are observed, as well as reduced ...
Britta Eggers, Maximilian Hausherr, Michel Lim, Karin Schork, Bilhan Karacora, Robin Grugel, Martin Eisenacher, Isabel Gil Aldea, Peter Riederer, Manfred Gerlach, Katrin Marcus   +10 more
wiley   +1 more source

Primary extramedullary plasmacytoma: similarities with and differences from multiple myeloma revealed by interphase cytogenetics

Haematologica, 2008
Primary extramedullary plasmacytoma is an indolent neoplasm that infrequently converts to multiple myeloma. Since cytogenetic data on extramedullary plasmacytoma are lacking, we studied 38 cases of this type of neoplasm by fluorescence in situ ...
Karin Bink, Eugenia Haralambieva, Marcus Kremer, German Ott, Christine Beham-Schmid, Laurence de Leval, Suat Cheng Peh, Hubert R. Laeng, Uta Jütting, Peter Hutzler, Leticia Quintanilla-Martinez, Falko Fend   +11 more
doaj   +1 more source

Primary tracheal synovial sarcoma: a rare clinical entity with diagnostic challenges

Journal of the Egyptian National Cancer Institute, 2020
Background The incidence of primary tracheal tumors is very low. Tracheal synovial sarcoma (SS) is even an extremely rare entity. Diagnosis of tracheal SS can be achieved with chromosomal translocation studies along with immunohistochemistry. Margin-free
Navin Kumar, Seema Kaushal, Kanaklata Kanaklata, Manoj Gowda, Sunil Kumar   +4 more
doaj   +1 more source

A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism [PDF]

Korean Journal of Pediatrics, 2016
We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay.
Young-Jin Choi, Eunsim Shin, Tae Sik Jo, Jin-Hwa Moon, Se-Min Lee, Joo-Hwa Kim, Jae-Won Oh, Chang-Ryul Kim, In Joon Seol   +8 more
doaj   +1 more source

Targeting BCL-2 regulated apoptosis in cancer [PDF]

, 2018
The ability of a cell to undergo mitochondrial apoptosis is governed by pro- and anti-apoptotic members of the BCL-2 protein family. The equilibrium of pro- versus anti-apoptotic BCL-2 proteins ensures appropriate regulation of programmed cell death ...
Campbell, Kirsteen J., Tait, Stephen W.J.   +1 more
core   +1 more source

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation [PDF]

, 2021
Anna Clara Schnause, Katalin Komlósi, Barbara Herr, Jürgen Neesen, Paul Dremsek, Thomas Schwarz, Andreas Tzschach, Sabine Jägle, Ekkehart Lausch, Judith Fischer, Birgitta Gläser   +10 more
openalex   +1 more source

A Vascularized Microphysiological System Reproducing Endochondral Ossification in Vitro to Study Ewing Sarcoma Proliferation and Migration

Advanced Functional Materials, EarlyView.
A biofabricated 3D in vitro model recapitulating endochondral ossification (ECO) is described, mimicking the steps from condensation to chondrogenesis and hypertrophy, culminating with vascularization of the hypertrophic construct. As a model proof of concept application, Ewing Sarcoma cells are seeded in the model, showing modifications in their ...
Maria Vittoria Colombo, Chiara Arrigoni, Tobias Faehling, Antonietta Verrillo, Viviana Secci, Thomas G. P. Grünewald, Giuseppe Talò, Alexandra Kummer, Jorge Gonzalez, Vincenzo De Rosa, Christian Candrian, Andrea Barbero, Florencia Cidre‐Aranaz, Matteo Moretti   +13 more
wiley   +1 more source

Chromosomal Translocation and Segmental Duplication in Cryptococcus neoformans

Eukaryotic Cell, 2005
Large chromosomal events such as translocations and segmental duplications enable rapid adaptation to new environments. Here we marshal genomic, genetic, meiotic mapping, and physical evidence to demonstrate that a chromosomal translocation and segmental
J. A. Fraser, Johnny C. Huang, Read Pukkila-Worley, J. Alspaugh, T. G. Mitchell, J. Heitman   +5 more
semanticscholar   +1 more source