Results 61 to 70 of about 140,678 (408)

The Second Case of Non-Mosaic Trisomy of Chromosome 26 with Homologous Fusion 26q;26q in the Horse

Animals, 2022
We present cytogenetic and genotyping analysis of a Thoroughbred foal with congenital neurologic disorders and its phenotypically normal dam. We show that the foal has non-mosaic trisomy for chromosome 26 (ECA26) but normal 2n = 64 diploid number because
Sharmila Ghosh, Josefina Kjöllerström, Laurie Metcalfe, Stephen Reed, Rytis Juras, Terje Raudsepp   +5 more
doaj   +1 more source

Genomics‐led approach to drug testing in models of undifferentiated pleomorphic sarcoma

Molecular Oncology, EarlyView.
GA text Genomic data from undifferentiated pleomorphic sarcoma patients and preclinical models were used to inform a targeted drug screen. Selected compounds were tested in 2D and 3D cultures of UPS cell lines. A combination of trametinib and infigratinib was synergistic in the majority of UPS cell lines tested, which was further confirmed in an ex ...
Piotr J. Manasterski, Molly R. Danks, John P. Thomson, Morwenna Muir, Martin Lee, John C. Dawson, Ana T. Amaral, Juan Diaz‐Martin, David S. Moura, Javier Martin‐Broto, Ali Alsaadi, Donald M. Salter, Ailsa J. Oswald, Graeme Grimes, Larry Hayward, Ted R. Hupp, Karen Sisley, Paul H. Huang, Neil O. Carragher, Valerie G. Brunton   +19 more
wiley   +1 more source

A study on chromosomal analysis of patients with primary amenorrhea

Journal of Human Reproductive Sciences, 2019
Background: Primary amenorrhea is one of the most common disorders seen as gynecological problems in adolescent girls. It refers to the participants who did not attain menarche by the age of 11–15 years.
Asoke K Pal, Prafulla S Ambulkar, Bharat R Sontakke, Shweta S Talhar, Pradeep Bokariya, Vijay K Gujar   +5 more
doaj   +1 more source

Inversion Genotyping in the Anopheles gambiae Complex Using High-Throughput Array and Sequencing Platforms

G3: Genes, Genomes, Genetics, 2020
Chromosomal inversion polymorphisms have special importance in the Anopheles gambiae complex of malaria vector mosquitoes, due to their role in local adaptation and range expansion.
R. Rebecca Love, Marco Pombi, Moussa W. Guelbeogo, Nathan R. Campbell, Melissa T. Stephens, Roch K. Dabire, Carlo Costantini, Alessandra della Torre, Nora J. Besansky   +8 more
doaj   +1 more source

Current and Future Cornea Chip Models for Advancing Ophthalmic Research and Therapeutics

Advanced Biology, EarlyView.
This review analyzes cornea chip technology as an innovative solution to corneal blindness and tissue scarcity. The examination encompasses recent developments in biomaterial design and fabrication methods replicating corneal architecture, highlighting applications in drug screening and disease modeling while addressing key challenges in mimicking ...
Minju Kim, Kanghoon Choi, Amy Lin, Jungkyu Kim   +3 more
wiley   +1 more source

D-karyo—A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism

Diagnostics, 2021
Chromosomal microarray analysis (CMA), recently introduced following conventional cytogenetic technology, can detect submicroscopic copy-number variations (CNVs) in cases previously diagnosed as “cytogenetically benign”.
Osamu Shimokawa, Masayoshi Takeda, Hiroyasu Ohashi, Akemi Shono-Ota, Mami Kumagai, Risa Matsushika, Chika Masuda, Kohtaro Uenishi, Ritsuko Kimata Pooh   +8 more
doaj   +1 more source

Conventional karyotyping and fluorescence in situ hybridization: an effective utilization strategy in diagnostic adult acute myeloid leukemia.

American Journal of Clinical Pathology, 2015
OBJECTIVES Cytogenetics defines disease entities and predicts prognosis in acute myeloid leukemia (AML). Conventional karyotyping provides a comprehensive view of the genome, while fluorescence in situ hybridization (FISH) detects targeted abnormalities.
R. He, A. Wiktor, C. Hanson, R. Ketterling, Paul J. Kurtin, D. V. Van Dyke, M. Litzow, M. Howard, K. Reichard   +8 more
semanticscholar   +1 more source

An Animal‐Free Patient‐Derived Tissue‐Mimetic Biochip Model of the Human Synovial Membrane for Human‐Relevant Osteoarthritis Research

Advanced Healthcare Materials, EarlyView.
Reihs et al. present the development of a humanized, animal‐free synovial membrane model for osteoarthritis. Methods include 3D biochip cultures of human‐primary OA synoviocytes with matrix and serum surrogates. Results show replication of synovial architecture and increased Yap1 expression.
Eva I. Reihs, Alexander Stoegner, Mateo G. Vasconez Martínez, Markus M. Schreiner, Melanie Cezanne, Ruth Gruebl‐Barabas, Bettina Rodriguez‐Molina, Juergen Alphonsus, Silvia Hayer, Richard Lass, Iris Gerner, Florien Jenner, Wolfgang Holnthoner, Stefan Toegel, Peter Ertl, Hans P. Kiener, Reinhard Windhager, Mario Rothbauer   +17 more
wiley   +1 more source

Chromosomal abnormalities in primary and secondary amenorrhea

Bangabandhu Sheikh Mujib Medical University Journal
Background: Menstruation is an important physiological function of the female reproductive system. The absence of menstruation is called amenorrhea. Many genetic and nongenetic causes are responsible for primary or secondary amenorrhea. This study aimed
Tasnim Binte Ahmed, Jasmine Akhter Jahan, Bishnu Pada Dey, Saequa Habib   +3 more
doaj   +1 more source

A new species in the major malaria vector complex sheds light on reticulated species evolution [PDF]

, 2019
Complexes of closely related species provide key insights into the rapid and independent evolution of adaptive traits. Here, we described and studied Anopheles fontenillei sp.n., a new species in the Anopheles gambiae complex that we recently discovered ...
Akone-Ella O., Ayala D., Barron M. G., Costantini C., Gonzalez J., Kengne P., Ngangue M. F., Paupy C., Pombi M., Rahola N., Simard F., Wilson-Bahun T. A.   +11 more
core   +1 more source