Results 231 to 240 of about 144,700 (293)

Genetic Predictors of Progression and Skin Rash in Japanese mCSPC Patients Treated With Apalutamide: CUARTET Study

open access: yesCancer Science, EarlyView.
In patients with mCSPC treated with apalutamide plus ADT, baseline ctDNA predicted earlier progression to CRPC and worse overall survival. Exploratory genome‐wide analysis identified 12 SNPs associated with apalutamide‐related skin rash. ABSTRACT Despite promising evidence of the efficacy of the androgen deprivation therapy (ADT) plus apalutamide in ...
Masaki Shiota   +8 more
wiley   +1 more source

Repurposed hnRNPC binds mature mRNAs and safeguards the mitotic transcriptome. [PDF]

open access: yesNucleic Acids Res
Lev-Ari L   +5 more
europepmc   +1 more source

Relationship Between PTBP1 and Pancreatic Cancer Based on microRNA and Behavior During TYMS‐Mediated Carcinogenesis

open access: yesCancer Science, EarlyView.
Corresponding Author and colleagues identify a pancreas‐enriched microRNA, miR‐216b‐5p, that suppresses PTBP1 and its downstream effector TYMS. Their findings reveal a novel miR‐216b‐5p/PTBP1/TYMS regulatory axis driving pancreatic cancer progression and establish PTBP1 as a central molecular regulator of tumor biology beyond its metabolic role ...
Shigenori Suzuki   +14 more
wiley   +1 more source

Oncogenic BRAF and KRAS Promote Global DNA Hypomethylation Through a Directed Pathway That Upregulates TET3

open access: yesCancer Science, EarlyView.
Oncogenic BRAF and KRAS promote global DNA hypomethylation through a directed pathway that increases the levels of TET3, which helps drive tumorigenesis. ABSTRACT Aberrant epigenetic modification is one of the characteristics of the cancer genome.
Ichiro Onoyama   +12 more
wiley   +1 more source

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

open access: yesClinical Genetics, EarlyView.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic   +3 more
wiley   +1 more source

An ultraconserved pseudo 5' splice site fine-tunes development by regulating alternative splicing within TOR-related pathways. [PDF]

open access: yesNat Commun
Ding Z   +10 more
europepmc   +1 more source

Genetic Insights Into AVP Deficiency: Identification of a Novel AVP Variant and Compilation of a Curated Catalogue of Pathogenic Variants

open access: yesClinical Genetics, EarlyView.
We identified a novel pathogenic AVP variant in two Danish families with autosomal dominant inheritance of symptoms of AVP deficiency. In addition, we compiled a catalogue of additionally 109 AVP variants that cause AVP deficiency and demonstrated the advantage of combining expert‐assisted curation, literature search, and online repositories to ensure ...
Jennifa Joseph   +5 more
wiley   +1 more source

Impact of U2-type introns on splice site prediction in A. thaliana species using deep learning. [PDF]

open access: yesBMC Bioinformatics
Kabanga E   +5 more
europepmc   +1 more source

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