Results 91 to 100 of about 554,004 (364)

Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'Drift mapping' in small populations with no demographic expansion [PDF]

, 1998
Linkage disequilibrium has been a powerful tool in identifying rare disease alleles in human populations. To date, most research has been directed to isolated populations which have undergone a bottleneck followed by rapid exponential expansion.
Zöllner, Sebastian, Laan, Maris, Terwilliger, J., Zöllner, S., Pääbo, S. ; https://orcid.org/, Pääbo, Svante, Laan, M., Terwilliger, Joseph D., Terwilliger, J. D.   +8 more
core   +1 more source

Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates

FEBS Letters, EarlyView.
Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley   +1 more source

Biobanking across the phenome - at the center of chronic disease research [PDF]

, 2013
Recognized public health relevant risk factors such as obesity, physical inactivity, smoking or air pollution are common to many non-communicable diseases (NCDs). NCDs cluster and co-morbidities increase in parallel to age.
Nicole M Probst-Hensch, Imboden, Medea, Medea Imboden, Probst-Hensch, Nicole M.   +3 more
core   +1 more source

The role of miR‐335‐5p in the redifferentiation of BRAF p.V600E thyroid cancers

Molecular Oncology, EarlyView.
The BRAF p.V600E mutation promotes thyroid cancer dedifferentiation and radioiodine resistance. Using a network approach, we identified miR‐335‐5p as a key regulator of BRAF‐mutated thyroid tumors. Restoring miR‐335‐5p increased thyroid‐specific gene expression and iodine uptake in cells and organoids.
Valeria Pecce, Simone Bini, Marialuisa Sponziello, Giorgio Grani, Giulia Fiscon, Paola Paci, Lorenzo Farina, Rosa Falcone, Valentina Maggisano, Sebastiano Filetti, Cosimo Durante, Antonella Verrienti   +11 more
wiley   +1 more source

Immunomodulatory properties and molecular effects in inflammatory diseases of low-dose X-irradiation

, 2012
Inflammatory diseases are the result of complex and pathologically unbalanced multicellular interactions. For decades, low-dose X-irradiation therapy (LD-RT) has been clinically documented to exert an anti-inflammatory effect on benign diseases and ...
Seegenschmiedt, Michael H., Keilholz, Ludwig, Stephanie Hehlgans, M. Heinrich eSeegenschmiedt, Guido Hildebrandt, Gaipl, Udo Sebastian, Udo S. Gaipl, Rödel, Franz, Hehlgans, Stephanie, Udo S Gaipl, Manda, Katrin, Ludwig eKeilholz, M. Heinrich Seegenschmiedt, Guido eHildebrandt, Hildebrandt, Guido, Benjamin eFrey, Franz eRödel, Ludwig Keilholz, Frey, Benjamin, Benjamin Frey, Rödel, Claus, Katrin Manda, Claus Rödel, Stephanie eHehlgans, Franz Rödel, Claus eRödel, Katrin eManda   +26 more
core   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Heritability of malaria in Africa [PDF]

, 2005
Background While many individual genes have been identified that confer protection against malaria, the overall impact of host genetics on malarial risk remains unknown.
Williams, Thomas N., Mackinnon, Margaret J., Marsh Kevin, Snow, RW, Marsh, K, Robert W Snow, Kevin Marsh, Snow, Robert W., Snow Robert W, Williams Thomas N, Snow, Robert, Mackinnon, Margaret, Tabitha W Mwangi, Mackinnon Margaret J, Mackinnon, MJ, Mwangi, TW, Thomas N Williams, Williams, TN, Mwangi, Tabitha W., Williams, Thomas, Margaret J Mackinnon, Marsh, Kevin, Mwangi Tabitha W   +22 more
core   +1 more source

Dimethyl fumarate combined with cisplatin at subcytotoxic doses sensitizes cervical cancer toward ferroptosis and apoptosis through GSH restriction and p53 (re)activation

Molecular Oncology, EarlyView.
Dimethyl fumarate (DMF) reduces growth of HPV‐positive cervical cancer spheroids and induces ferroptosis in cervical cancer cells via blocking SLC7A11/Glutathione (GSH) axis. Combination of subcytotoxic doses of DMF and cisplatin (CDDP) further suppresses spheroid growth and drives cell death in 2D culture models.
Carolina Punziano, Giuseppina Minopoli, Simona Romano, Laura Marrone, Katia Aquilano, Maria Lina Tornesello, Raffaella Faraonio   +6 more
wiley   +1 more source

Reclassification of Hypophosphatemic Bone Disease as X-Linked Hypophosphatemia Following Genetic Testing in Adulthood

AACE Endocrinology and Diabetes
X-linked hypophosphatemia (XLH) is a disorder caused by a pathogenic variant in the phosphate-regulating endopeptidase homolog X-linked gene. This leads to increased fibroblast growth factor 23 synthesis, prompting renal phosphate wasting and hypophosphatemia.
Loay Kamel, Abdullah Hussain, Ahmed Elmewafy, Dalal S. Ali, Aliya A. Khan   +4 more
openaire   +4 more sources

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing

npj Genomic Medicine
Somatic mosaicism produces genetic differences between cells in an individual and is an underrecognized contributor to phenotypic variability. Precise understanding of the natural history of genetic diseases, therefore, requires detection and recognition
Alexandra C. Keefe, Dana M. Jensen, Meranda M. Pham, Natalie Y T Au, Erika Beckman, Monica Penon-Portmann, Emily Shelkowitz, Renee Bend, Michelle M. Morrow, Paul Kruszka, Divya Vats, Bianca E. Russell, Erica Chan, Derek Wong, Ahna Rabani, Lauren O’Grady, Inderneel Sahai, Kimberly Widmeyer, Ethan D. Sperry, Barbara E. Hallinan, Rebecca Tryon, Troy C. Lund, Florian S. Eichler, Angela Sun, James T. Bennett   +24 more
doaj   +1 more source