Results 91 to 100 of about 6,776,369 (200)

A new peptide inhibitor of C1QBP exhibits potent anti‐tumour activity against triple negative breast cancer by impairing mitochondrial function and suppressing homologous recombination repair

open access: yesClinical and Translational Medicine, Volume 15, Issue 1, January 2025.
The newly discovered peptide PDBAG1 is the first small molecule substance found to directly target and degrade C1QBP, demonstrating significant tumour inhibitory effects and therapeutic potential. Abstract C1QBP exhibits heightened expression across a spectrum of tumours, thereby fostering their proliferation and metastasis, rendering it a pivotal ...
Xingxing Li   +9 more
wiley   +1 more source

Identification of Endoplasmic Reticulum Stress‐Related Genes in Osteoporosis Pathogenesis

open access: yesMediators of Inflammation, Volume 2025, Issue 1, 2025.
Background: Osteoporosis is a prevalent metabolic bone disorder with complex molecular underpinnings. Emerging evidence implicates endoplasmic reticulum stress (ERS) in its pathogenesis; however, systematic exploration of ERS‐related genes (ERSRGs) remains limited.
Yiren Zhu   +7 more
wiley   +1 more source

Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases. [PDF]

open access: yes, 2016
Rare genetic disorders, which can now be studied systematically with affordable genome sequencing, are often caused by high-penetrance rare variants.
Greene, Daniel   +3 more
core   +3 more sources

Predicting the potential associations between circRNA and drug sensitivity using a multisource feature‐based approach

open access: yesJournal of Cellular and Molecular Medicine, Volume 28, Issue 19, October 2024.
Abstract The unique non‐coding RNA molecule known as circular RNA (circRNA) is distinguished from conventional linear RNA by having a longer half‐life, greater degree of conservation and inherent solidity. Extensive research has demonstrated the profound impact of circRNA expression on cellular drug sensitivity and therapeutic efficacy.
Shuaidong Yin   +7 more
wiley   +1 more source

Diagnosis of Treacher-Collins Syndrome: The role of the multidisciplinary team in patient management and family genetic counseling

open access: yesRwanda Medical Journal, 2022
INTRODUCTION: Although Treacher-Collins syndrome has to be considered a differential diagnosis in congenital craniofacial abnormalities, the clinical diagnosis and research related to it still present a gap, especially in African regions.
B. Tuyishimire   +7 more
doaj  

THE INFLUENCE OF FGFR1 VARIANTS ON NORMAL HUMAN CRANIOFACIAL SHAPE [PDF]

open access: yes, 2015
The factors influencing the morphology of the human face are of interest to researchers in a variety of different fields. Craniofacial morphology is modified by both genetic and epigenetic events, and factors influencing craniofacial morphology include ...
Kalra, Varun   +4 more
core  

Efficient algorithms to discover alterations with complementary functional association in cancer

open access: yes, 2018
Recent large cancer studies have measured somatic alterations in an unprecedented number of tumours. These large datasets allow the identification of cancer-related sets of genetic alterations by identifying relevant combinatorial patterns.
Basso, Rebecca Sarto   +2 more
core   +2 more sources

Integration of protein phosphorylation, acetylation, and methylation data sets to outline lung cancer signaling networks [PDF]

open access: yes, 2018
Integrated multiomics network analysis reveals signaling profiles in lung cancer.
Clark, Neil R.   +14 more
core   +1 more source

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

open access: yes
American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
Katherine J. K. Patterson   +2 more
wiley   +1 more source

Clinical relevance and druggability of sole reciprocal kinase fusions: A large‐scale study

open access: yesCancer Medicine, Volume 13, Issue 17, September 2024.
Abstract Background Building on our prior work that RNA alternative splicing modulates the druggability of kinase fusions, this study probes the clinical significance of sole reciprocal fusions. These rare genomic arrangements, despite lacking kinase domains at the DNA level, demonstrated potential RNA‐level druggability in sporadic cases from our ...
Jiao Feng   +7 more
wiley   +1 more source

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