Results 31 to 40 of about 2,117,831 (289)

A novel de novo RNF13 variant in developmental and epileptic encephalopathy 73: genotype–phenotype correlation and literature review

BMC Neurology
Background Developmental and epileptic encephalopathy-73 (DEE73, OMIM: #618379) is a rare autosomal dominant genetic disorder. This study reports a novel de novo RNF13 variant in a Chinese patient, aiming to assess its pathogenicity and expand ...
Qiang Zhang, Qi Yang, Xunzhao Zhou, Shujie Zhang, Yiyan Ruan, Jingsi Luo   +5 more
doaj   +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

Multi-omics evaluation of the prognostic value and immune signature of FCN1 in pan-cancer and its relationship with proliferation and apoptosis in acute myeloid leukemia

Frontiers in Genetics
BackgroundThe FCN1 gene encodes the ficolin-1 protein, implicated in the pathogenesis of various diseases, though its precise role in tumorigenesis remains elusive. This study aims to elucidate the prognostic significance, immune signature, and treatment
Fangfang Zhong, Lijun Song, Hao li, Jing Liu, Chunyan Liu, Qulian Guo, Wenjun Liu   +6 more
doaj   +1 more source

Spatial and single‐nuclei transcriptomics reveals idiosyncratic and generic patterns in papillary and anaplastic thyroid cancers

Molecular Oncology, EarlyView.
Matched spatial transcriptomics and single‐nuclei RNA‐seq were generated for anaplastic and BRAFV600E papillary thyroid cancers revealing generic and tumor‐specific states occurring in cancer cells and in the tumor microenvironment. In this context, cancer dedifferentiation mirrored organoid maturation through ordered thyroid marker gain/loss ...
Adrien Tourneur, Joel Rodrigues Vitória, Manuel Saiselet, Ligia Craciun, Denis Larsimont, Anne Lefort, Frédérick Libert, Carine Maenhaut, Sabine Costagliola, Maxime Tarabichi, Mirian Romitti, Vincent Detours   +11 more
wiley   +1 more source

Epigenome-wide association studies of prenatal maternal mental health and infant epigenetic profiles: a systematic review

Translational Psychiatry, 2023
Prenatal stress and poor maternal mental health are associated with adverse offspring outcomes; however, the biological mechanisms are unknown. Epigenetic modification has linked maternal health with offspring development.
Emily Drzymalla, Krista S. Crider, Arick Wang, Gwinn Marta, Muin J. Khoury, Danielle Rasooly   +5 more
doaj   +1 more source

Targeting transcription factors associated with hemoglobinopathies: Lessons from successful interventions and implications for cancer

Molecular Oncology, EarlyView.
This review summarizes the transcription factors, repressive chromatin‐modifying complexes, and epigenetic mechanisms that control fetal hemoglobin repression. Notably, many regulators of γ‐globin silencing also function in transcriptional and epigenetic networks that drive cancer, highlighting opportunities to translate advances in hemoglobinopathy ...
Meigen Yu, Puspa Das, Xing Zhang, Xiaodong Cheng   +3 more
wiley   +1 more source

Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality

Molecular Genetics & Genomic Medicine
Background TNRC6B deficiency syndrome, also known as global developmental delay with speech and behavioral abnormalities (MIM 619243), is a rare autosomal dominant genetic disease mainly characterized by facial dysmorphism, developmental delay ...
Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo   +8 more
doaj   +1 more source

Arginine methylation as a regulatory ratchet in cancer: From substrate selection to malignant‐state stabilization

Molecular Oncology, EarlyView.
Arginine methylation can be viewed as a persistence‐prone post‐translational modification regulated by a network of PRMTs. Competitive and compensatory interactions among PRMTs can redistribute methylation across substrate pools shaped by sequence, structural, spatial, and environmental layers, reinforcing RNA‐processing, chromatin, and signaling ...
So Hyun Kwon, Ji Min Lee
wiley   +1 more source

A surveillance-based epidemiological study of renal agenesis in 25 million births in china, 2007–2020

BMC Pregnancy and Childbirth
Background Renal agenesis (RA), a rare congenital kidney defect, varies in clinical severity. Unilateral renal agenesis (URA) is more prevalent and may cause long-term renal complications, whereas bilateral renal agenesis (BRA) is typically fatal.
Yuyang Gao, Wenli Xu, Wenyan Li, Zhiyu Chen, Qi Li, Zhen Liu, Li Dai   +6 more
doaj   +1 more source

Screening potential antileukemia ingredients from sweet potato: integration of metabolomics analysis, network pharmacology, and experimental validation

Frontiers in Nutrition
BackgroundActive dietary flavonoids are a promising resource for novel drug discovery. Sweet potato, a widely cultivated functional crop, is abundant in flavonoids.
Lianling Xu, Lianling Xu, Kaixuan Zeng, Kaixuan Zeng, Zuoyue Duan, Zuoyue Duan, Jing Liu, Yan Zeng, Miao Zhang, You Yang, Qulian Guo, Yanling Jin, Wenjun Liu, Ling Guo   +13 more
doaj   +1 more source