Results 161 to 170 of about 1,423,917 (266)

Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease

Frontiers in Genetics
Lidia Larizza, Christopher M. Watson, Christopher M. Watson, Madelyn A. Gillentine, Palma Finelli, Palma Finelli   +5 more
doaj   +1 more source

Epidemiology and economic burden of selected rare genetic diseases in Germany - a claims database study. [PDF]

Orphanet J Rare Dis
Ludwig M, Alibone M, Norris R, Jacob J, Viskovic V, Cengia A, Obermüller D.   +6 more
europepmc   +1 more source

AscF in the mycobacterial CIII–CIV supercomplex lacks metal and nucleotide binding but links malate oxidation to respiration

FEBS Letters, EarlyView.
The mycobacterial CIII‐CIV respiratory supercomplex is an obligate assembly, encompassing several subunits of unknown functions. We have characterized the intracellular subunit AscF, and show that it is unlikely to be a sensor for metals or nucleotides, but is required for growth on nonfermentable energy sources, and likely works as an adapter for ...
Eni Rile, Riccardo Diamanti, Daniel Lundin, Soni Sharma, Robin Lissner, Coenraad P. Kuil, Martin Högbom, Dirk Bald, Dan Sjöstrand   +8 more
wiley   +1 more source

Gene Dosage Sensitivity and Human Genetic Diseases. [PDF]

J Inherit Metab Dis
Veitia RA, Zschocke J, Birchler JA.
europepmc   +1 more source

The therapeutic opportunities and pitfalls of using iron ion chelators to treat neurodegenerative diseases

FEBS Letters, EarlyView.
Although too much iron in the brain promotes neurodegeneration, iron ion chelators have had mixed effects in clinical trials. This review explains why; some chelators do not render the iron redox‐inactive (e.g., L1) whereas others do (e.g., desferrioxamine).
Barry Halliwell
wiley   +1 more source

Advances in Laboratory Methodologies and Biological Matrices for the Study and Management of Rare Ocular Genetic Diseases. [PDF]

Cells
D'Esposito F, Lo Sasso B, Mazzotta CG, Cappellani F, Zeppieri M, Bronzi D, Iemmolo R, Campisi R, Avitabile T.   +8 more
europepmc   +1 more source

An epithelial GPR35 isoform supports tumor‐associated transcriptional and metabolic phenotypes

FEBS Letters, EarlyView.
GPR35 generates two functionally distinct isoforms with previously unresolved roles. GPR35‐short mediates immune‐cell chemotaxis, while GPR35‐long is enriched in colorectal cancer epithelium, where it supports increased metabolism, proliferation, and tumor‐associated transcriptional programs.
Jørgen D. Rønneberg, Martine Hjeltnes, Josephine Krieger, Joshua E. Elias, Maria Stensland, Kristian Holm, Xiaojun Jiang, Chuki Khangsar, Tuula A. Nyman, Arthur Kaser, Johannes R. Hov, Tom H. Karlsen, Nicole C. Kaneider, Frode L. Jahnsen, Georg Schneditz   +14 more
wiley   +1 more source

Therapeutic Application of mRNA for Genetic Diseases. [PDF]

Wiley Interdiscip Rev Nanomed Nanobiotechnol
Schürmann PJL, van Breda Vriesman SPE, Castro-Alpízar JA, Kooijmans SAA, Nieuwenhuis EES, Schiffelers RM, Fuchs SA.   +6 more
europepmc   +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

Pharmacotherapy Risks in Rare Genetic Diseases: Cross-Referencing ACMG Secondary Findings v3.2 List With Clinical Databases. [PDF]

Clin Transl Sci
Allen JD, Duong BQ, Brady J, Arn P.
europepmc   +1 more source