Results 161 to 170 of about 687,041 (305)

Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes. [PDF]

Pediatr Res, 2023
Wojcik MH, Bresnahan M, Del Rosario MC, Ojeda MM, Kritzer A, Fraiman YS.   +5 more
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

What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis. [PDF]

Eur J Hum Genet
Lambert DM, Stewart H, Bandiola M, Bertoli M, Butterly D, Kuismin O, Moilanen J, Rea G, Streata I, Griffin A, McGrath V, Behan D, Coen N, King S, Kilroe E, Ward AJ, Lynch SA.   +16 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

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

Leveraging PCORnet® to Advance Clinical Genetics and the Genomic Learning Health System. [PDF]

Med Care
Rothman RL, Peterson J, Kripalani S, Barrett JB, Bastarache L, Lenert L, Taylor B, Carnahan R, Waitman LR.   +8 more
europepmc   +1 more source

Predicting Atrial Fibrillation after Ischemic Stroke: Clinical, Genetics, and Electrocardiogram Modelling. [PDF]

Cerebrovasc Dis Extra, 2023
Poh MQW, Tham CH, Chee JDMS, Saffari SE, Tan KWK, Tan LW, Ng EY, Yeo CPX, Seet CYH, Xie JP, Lai JY, Singh R, Tan EK, Tu TM.   +13 more
europepmc   +1 more source

Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics. [PDF]

Int J Mol Sci
Treccarichi S, Vinci M, Virgillito M, Musumeci A, Bruno F, Papa C, Galati Rando R, Marano P, Greco D, Fallea A, Brancato D, Calì S, Garcia G, Federico C, Saccone S, Calì F.   +15 more
europepmc   +1 more source

Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service. [PDF]

PLoS One, 2022
Trachoo O, Yingchoncharoen T, Ngernsritrakul T, Iemwimangsa N, Panthan B, Klumsathian S, Srisukh S, Mukdadilok A, Phusanti S, Charoenyingwattana A, Chareonsirisuthigul T, Chantratita W, Tangcharoen T.   +12 more
europepmc   +1 more source

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source