Results 121 to 130 of about 184,715 (310)

A framework for the clinical implementation of optical genome mapping in hematologic malignancies

American journal of hematology/oncology
Optical Genome Mapping (OGM) is rapidly emerging as an exciting cytogenomic technology both for research and clinical purposes. In the last 2 years alone, multiple studies have demonstrated that OGM not only matches the diagnostic scope of conventional ...
Brynn Levy, R. Kanagal-Shamanna, N. Sahajpal, K. Neveling, Katrina Rack, B. Dewaele, Daniel Olde Weghuis, M. Stevens-Kroef, A. Puiggros, M. Mallo, Benjamin Clifford, T. Mantere, A. Hoischen, B. Espinet, R. Kolhe, Francesc Solé, G. Raca, Adam C Smith   +17 more
semanticscholar   +1 more source

Optical Genome Mapping for Applications in Repeat Expansion Disorders [PDF]

Current Protocols
AbstractShort tandem repeat (STR) expansions are associated with more than 60 genetic disorders. The size and stability of these expansions correlate with the severity and age of onset of the disease. Therefore, being able to accurately detect the absolute length of STRs is important.
van der Sanden, B., Neveling, K., Pang, A.W.C., Shukor, S., Gallagher, M.D., Burke, S.L., Kamsteeg, E.J., Hastie, A., Hoischen, A., Hoischen, A.   +9 more
openaire   +3 more sources

Metformin promotes mitochondrial integrity through AMPK‐signaling in Leber's hereditary optic neuropathy

FEBS Open Bio, EarlyView.
Metformin mediates mitochondrial quality control in Leber's hereditary optic neuropathy (LHON) fibroblasts carrying mtDNA mutations. At therapeutic levels, metformin activates AMPK signaling to restore mitochondrial dynamics by promoting fusion and restraining fission, while preserving mitochondrial mass, enhancing autophagy/mitophagy and biogenesis ...
Chatnapa Panusatid, Rapasviranda Soiyangsuk, Maneeluck Tanadjindarat, Chayanon Peerapittayamongkol   +3 more
wiley   +1 more source

Developing a High-Quality Linkage Map for the Atlantic Killifish Fundulus heteroclitus

G3: Genes, Genomes, Genetics, 2019
Killifish (Fundulus heteroclitus) are widely distributed among different aquatic environments where they demonstrate an impressive range of highly-plastic and locally adaptive phenotypes. High-throughput sequencing has begun to unravel the mechanisms and
Jeffrey T. Miller, Noah M. Reid, Diane E. Nacci, Andrew Whitehead   +3 more
doaj   +1 more source

Mitotic antipairing of homologous and sex chromosomes via spatial restriction of two haploid sets. [PDF]

, 2018
Pairing homologous chromosomes is required for recombination. However, in nonmeiotic stages it can lead to detrimental consequences, such as allelic misregulation and genome instability, and is rare in human somatic cells.
Hua, Lisa L, Mikawa, Takashi
core   +1 more source

KLK7 overexpression promotes an aggressive phenotype and facilitates peritoneal dissemination in colorectal cancer cells

FEBS Open Bio, EarlyView.
KLK7, a tissue kallikrein‐related peptidase, is elevated in advanced colorectal cancer and associated with shorter survival. High KLK7 levels in ascites correlate with peritoneal metastasis. In mice, KLK7 overexpression increases metastasis. In vitro, KLK7 enhances cancer cell proliferation, migration, adhesion, and spheroid formation, driving ...
Yosr Z. Haffani, Tobias Dreyer, Meriem Naim, Rea Lo Dico, Natalia A. Ignatenko, Viktor Magdolen, Dalila Darmoul   +6 more
wiley   +1 more source

Improved single-swab sample preparation for recovering bacterial and phage DNA from human skin and wound microbiomes. [PDF]

, 2019
BackgroundCharacterization of the skin and wound microbiome is of high biomedical interest, but is hampered by the low biomass of typical samples. While sample preparation from other microbiomes (e.g., gut) has been the subject of extensive optimization,
Chen, Irene A, Deacon, John M, Kim, Colin Y, Verbanic, Samuel   +3 more
core   +1 more source

Mycobacterial cell division arrest and smooth‐to‐rough envelope transition using CRISPRi‐mediated genetic repression systems

FEBS Open Bio, EarlyView.
CRISPRI‐mediated gene silencing and phenotypic exploration in nontuberculous mycobacteria. In this Research Protocol, we describe approaches to control, monitor, and quantitatively assess CRISPRI‐mediated gene silencing in M. smegmatis and M. abscessus model organisms.
Vanessa Point, Wafaa Achache, Janïs Laudouze, Eliana Sepulveda Ramos, Mickaël Maziero, Céline Crauste, Stéphane Canaan, Pierre Santucci   +7 more
wiley   +1 more source

A chromosome-scale assembly of the sorghum genome using nanopore sequencing and optical mapping

Nature Communications, 2018
Assembly of large, repeat-rich eukaryotic genomes remains challenging. Here, the authors use BioNano Genomics DLS optical mapping and single-molecule nanopore sequencing to generate a chromosome-scale assembly of a new Sorghum bicolor accession and ...
Stéphane Deschamps, Yun Zhang, Victor Llaca, Liang Ye, Abhijit Sanyal, Matthew King, Gregory May, Haining Lin   +7 more
doaj   +1 more source

Understanding bio‐based polymers: A study of origins, properties, biodegradation and their impact on health and the environment

FEBS Open Bio, EarlyView.
This review provides an overview of bio‐based polymer sources, their unique functional properties and their environmental impact, and addresses their role as sustainable alternatives. It discusses end‐of‐life options, including composting and anaerobic digestion for renewable energy.
Sabina Kolbl Repinc, Blaž Stres, Mirica Karlovits, Igor Karlovits, Petra Jerič, Ondrej Panák, Anja Verbič, Blaž Likozar, Uroš Novak   +8 more
wiley   +1 more source