Results 241 to 250 of about 791,916 (337)

Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review. [PDF]

Int J Mol Sci
Bernardi E, López-Lombardía Ó, Olmedo-Saura G, Pagonabarraga J, Kulisevsky J, Pérez-Pérez J.   +5 more
europepmc   +1 more source

The neural crest‐associated gene ERRFI1 is involved in melanoma progression and resistance toward targeted therapy

Molecular Oncology, EarlyView.
ERRFI1, a neural crest (NC)‐associated gene, was upregulated in melanoma and negatively correlated with the expression of melanocytic differentiation markers and the susceptibility of melanoma cells toward BRAF inhibitors (BRAFi). Knocking down ERRFI1 significantly increased the sensitivity of melanoma cells to BRAFi.
Nina Wang, Qian Sun, Daniel Novak, Lei Zhu, Juliane Poelchen, Tamara Steinfass, Yiman Wang, Viktor Umansky, Jochen Utikal   +8 more
wiley   +1 more source

Effects and safety of dapagliflozin in paediatric hereditary kidney disease: protocol for a multicentric, prospective, open and randomised crossover study (DAPA-PedHKD). [PDF]

BMJ Open
Zhang W, Dou Y, Liu J, Liu T, Yan W, Shen Q, Xu H, Zhai Y.   +7 more
europepmc   +1 more source

Plasma extrachromosomal circular DNA as a biomarker in EGFR‐targeted therapy of non‐small cell lung cancer

Molecular Oncology, EarlyView.
Detection of extrachromosomal circular DNA (eccDNA) in plasma samples from EGFR‐mutated non‐small cell lung cancer patients. Plasma was collected before and during treatment with the EGFR‐tyrosine kinase inhibitor osimertinib. Plasma eccDNA was detected in all cancer samples, and the presence of the EGFR gene on eccDNA serves as a potential biomarker ...
Simone Stensgaard, Sarmad Mehmood, Eva Boysen Fynboe Ebert, Peter Meldgaard, Anindya Dutta, Boe S. Sorensen   +5 more
wiley   +1 more source

The Genetic and Molecular Analyses of Rare Candidate Germline <i>BRIP1/FANCJ</i> Variants Implicated in Hereditary Breast and Ovarian Cancers. [PDF]

Int J Mol Sci
Alenezi WM, Milano L, Fierheller CT, Serruya C, Revil T, Oros KK, Bruce JP, Spiegelman D, Pugh T, Mes-Masson AM, Provencher D, Foulkes WD, El Haffaf Z, Rouleau G, Bouchard L, Greenwood CMT, Ragoussis J, Masson JY, Tonin PN.   +18 more
europepmc   +1 more source

Survivin and Aurora Kinase A control cell fate decisions during mitosis

Molecular Oncology, EarlyView.
Aurora A interacts with survivin during mitosis and regulates its centromeric role. Loss of Aurora A activity mislocalises survivin, the CPC and BubR1, leading to disruption of the spindle checkpoint and triggering premature mitotic exit, which we refer to as ‘mitotic slippage’.
Hana Abdelkabir, Shalitha Wickrama Arachchige, Sally P. Wheatley   +2 more
wiley   +1 more source

Pain management in patients with hereditary angioedema: A case report. [PDF]

Medicine (Baltimore)
Li X, Ran Y, Zuo C, He S, Ma Y, Li X.
europepmc   +1 more source

CDK11 inhibition induces cytoplasmic p21WAF1 splice variant by p53 stabilisation and SF3B1 inactivation

Molecular Oncology, EarlyView.
CDK11 inhibition stabilises the tumour suppressor p53 and triggers the production of an alternative p21WAF1 splice variant p21L, through the inactivation of the spliceosomal protein SF3B1. Unlike the canonical p21WAF1 protein, p21L is localised in the cytoplasm and has reduced cell cycle‐blocking activity.
Radovan Krejcir, Lukasz Arcimowicz, Lucia Martinkova, Vaclav Hrabal, Filip Zavadil Kokas, Tomas Henek, Martina Kucerikova, Ondrej Bonczek, Pavlina Zatloukalova, Lenka Hernychova, Philip J. Coates, Borivoj Vojtesek, David P. Lane   +12 more
wiley   +1 more source

A Rare Case of Synchronous Multiple Primary Malignancies of the Pancreas, Skin, and Thyroid. [PDF]

Case Rep Oncol Med
Barsoum M, Pepeljugoski CA.
europepmc   +1 more source

Expression of Human Globin Genes in Transgenic Mice Carrying the β‐Globin Gene Cluster with a Mutation Causing ^Gγβ⁺ Hereditary Persistence of Fetal Hemoglobin^a

, 1990
Minoru Tanaka, J. A. Nolan, Ajay Bhargava, Kirsten Lynn Rood, Francis S. Collins, Sherman M. Weissman, Bernard G. Forget, John W. Chamberlain   +7 more
openalex   +2 more sources