Results 141 to 150 of about 1,210,893 (313)

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon, Rui P. L. Neves, Nikolas H. Stoecklein, Sven‐Thorsten Liffers, Jens Siveke, Jan D. Kuhlmann, Pauline Wimberger, Paul Buderath, Rainer Kimmig, Sabine Kasimir‐Bauer   +9 more
wiley   +1 more source

O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency

Genetics in Medicine Open
Charles Venditti, Jennifer Sloan, Wadih Zein, Audrey Thurm, Camryn Hall, Carol Van Ryzin, Susan Ferry, Abigael Gebremariam, Jennifer Myles, Laryssa Huryn, Brian Brooks, Irini Manoli   +11 more
doaj   +1 more source

Human History, Human Genomes [PDF]

Cell, 2018
Dov Greenbaum, Mark Gerstein
openaire   +1 more source

Redox regulation meets metabolism: targeting PRDX2 to prevent hepatocellular carcinoma

Molecular Oncology, EarlyView.
PRDX2 acts as a central redox hub linking metabolic dysfunction‐associated steatohepatitis (MASH) to hepatocellular carcinoma (HCC). In normal hepatocytes, PRDX2 maintains redox balance and metabolic homeostasis under oxidative stress. In contrast, during malignant transformation, PRDX2 promotes oncogenic signaling, stemness, and tumor initiation ...
Naroa Goikoetxea‐Usandizaga, María Luz Martinez‐Chantar, Carolina Conter   +2 more
wiley   +1 more source

P023: Using genomic databases to estimate rare disease prevalence: Application to disorders of propionyl-CoA oxidation

Genetics in Medicine Open
Jennifer Sloan, Camryn Hall, Irini Manoli, Charles Venditti   +3 more
doaj   +1 more source

The quest for a complete understanding of the human genome. [PDF]

Genome Med
Abou Tayoun A, Ali H, Mokrab Y.
europepmc   +1 more source

Protein O‐glycosylation in the Bacteroidota phylum

FEBS Open Bio, EarlyView.
Species of the Bacteroidota phylum exhibit a unique O‐glycosylation system. It modifies noncytoplasmic proteins on a specific amino acid motif with a shared glycan core but a species‐specific outer glycan. A locus of multiple glycosyltransferases responsible for the synthesis of the outer glycan has been identified.
Lonneke Hoffmanns, Dennis Svedberg, André Mateus   +2 more
wiley   +1 more source

The origin of mirror repeats in the human genome. [PDF]

Nucleic Acids Res
McGinty R, Lyskova A, Mirkin SM.
europepmc   +1 more source

Clinical Features and Complete Genome Characterization of a Distinct Human Rhinovirus (HRV) Genetic Cluster, Probably Representing a Previously Undetected HRV Species, HRV-C, Associated with Acute Respiratory Illness in Children

, 2007
Susanna K. P. Lau, Cyril Chik‐Yan Yip, Hoi‐Wah Tsoi, Rodney A. Lee, Lok‐Yee So, YL Lau, Kwok‐Hung Chan, Patrick C. Y. Woo, Kwok‐Yung Yuen   +8 more
openalex   +2 more sources

Actin dynamics controlled by IqgC, a RasGAP at the crossroads between the IQGAP and fungal GAP1 families

FEBS Open Bio, EarlyView.
IqgC is a RasGAP from Dictyostelium discoideum. IqgC binds RasG via its RasGAP domain and deactivates it on macroendocytic cups, thereby suppressing the uptake of fluid and particles. IqgC has a positive effect on cell‐substratum adhesion, and its RGCt domain is required for recruitment to ventral foci.
Vedrana Filić, Darija Putar, Lucija Mijanović, Igor Weber   +3 more
wiley   +1 more source