Results 151 to 160 of about 616,961 (234)

Tumor mutational burden as a determinant of metastatic dissemination patterns

Molecular Oncology, EarlyView.
This study performed a comprehensive analysis of genomic data to elucidate whether metastasis in certain organs share genetic characteristics regardless of cancer type. No robust mutational patterns were identified across different metastatic locations and cancer types.
Eduardo Candeal, Andrea Moreno‐Manuel, Miguel Salvadó‐Pertierra, Cristina Santos‐Vivas, Rebeca Sanz‐Pamplona   +4 more
wiley   +1 more source

Understanding the clinical genetics of kidney stone disease using the Natera Renasight panel. [PDF]

Urolithiasis
Baca AL, Patel RD, Labagnara K, Green B, Zhu M, Gupta K, Edelblute B, Asencio AA, Sharma D, Chen W, Raskolnikov D, Donnelly J, Watts KL, Small AC.   +13 more
europepmc   +1 more source

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8. [PDF]

Genes (Basel), 2023
Pasquetti D, Marangi G, Orteschi D, Carapelle M, L'Erario FF, Venditti R, Maietta S, Battaglia DI, Contaldo I, Veredice C, Zollino M.   +10 more
europepmc   +1 more source

TRAIL‐PEG‐Apt‐PLGA nanosystem as an aptamer‐targeted drug delivery system potential for triple‐negative breast cancer therapy using in vivo mouse model

Molecular Oncology, EarlyView.
Aptamers are used both therapeutically and as targeting agents in cancer treatment. We developed an aptamer‐targeted PLGA–TRAIL nanosystem that exhibited superior therapeutic efficacy in NOD/SCID breast cancer models. This nanosystem represents a novel biotechnological drug candidate for suppressing resistance development in breast cancer.
Gulen Melike Demirbolat, Aslihan Kucuk, Omer Erdogan, Samed Ozer, Bensu Kozan, Tugba Cuceli, Erkan Gumus, Evrim Cevik, Ozge Cevik   +8 more
wiley   +1 more source

Correction: Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services. [PDF]

Orphanet J Rare Dis
Wainstein T, Boelman C, Ens C, Gibson WT, Gregory-Evans K, Kolawole OU, Marshall SK, Selby K, Austin J, Elliott AM, GenCOUNSEL Study.   +10 more
europepmc   +1 more source

Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD). [PDF]

Int J Mol Sci, 2021
Gonçalves A, Fortuna A, Ariyurek Y, Oliveira ME, Nadais G, Pinheiro J, den Dunnen JT, Sousa M, Oliveira J, Santos R.   +9 more
europepmc   +1 more source

The PI3Kδ inhibitor roginolisib (IOA‐244) preserves T‐cell function and activity

Molecular Oncology, EarlyView.
Identification of novel PI3K inhibitors with limited immune‐related adverse effects is highly sought after. We found that roginolisib and idelalisib inhibit chronic lymphocytic leukemia (CLL) cells and Treg suppressive functions to similar extents, but roginolisib affects cytotoxic T‐cell function and promotion of pro‐inflammatory T helper subsets to a
Elise Solli, Alessio Bevilacqua, Mathias Wenes, Denis Migliorini, Lars van der Veen, Sigrid S Skånland, Giusy Di Conza, Kjetil Taskén   +7 more
wiley   +1 more source

A brief clinical genetics review: stepwise diagnostic processes of a monogenic disorder-hypertriglyceridemia. [PDF]

Transl Pediatr
Ueda M.
europepmc   +1 more source

Targeting p38α in cancer: challenges, opportunities, and emerging strategies

Molecular Oncology, EarlyView.
p38α normally regulates cellular stress responses and homeostasis and suppresses malignant transformation. In cancer, however, p38α is co‐opted to drive context‐dependent proliferation and dissemination. p38α also supports key functions in cells of the tumor microenvironment, including fibroblasts, myeloid cells, and T lymphocytes.
Angel R. Nebreda
wiley   +1 more source

Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services. [PDF]

Orphanet J Rare Dis
Wainstein T, Boelman C, Ens C, Gibson WT, Gregory-Evans K, Kolawole OU, Marshall SK, Selby K, GenCOUNSEL Study, Austin J, Elliott AM.   +10 more
europepmc   +1 more source