Results 61 to 70 of about 1,685,969 (303)

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

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

Modelling water vapor permeability through atomic layer deposition coated photovoltaic barrier defects [PDF]

, 2014
Transparent barrier films such as Al2O3 used for prevention of oxygen and/or water vapour permeation are the subject of increasing research interest when used for the encapsulation of flexible photovoltaic modules.
Robbins, David, Sweeney, Francis, Elrawemi, Mohamed, Blunt, Liam, Fleming, Leigh, Bird, David   +5 more
core   +1 more source

The Epidemiology, Aetiology, and Histopathology of Developmental Enamel Defects in Human Teeth [PDF]

, 1983
PhDThe prevalence of developmental enamel defects in t11 permanent dentition was investigated in a sample of 2923 East London schoolchildren aged 5 to 15 years. Enamel discolourations and hypoplasias were identified using well defined criteria.
Smith, Joyce Mary
core   +3 more sources

Saliva Sample‐Based Non‐Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang

Molecular Genetics & Genomic Medicine
Background Although spinal muscular atrophy (SMA), hereditary hearing loss (HL), and thalassemia are common monogenic genetic diseases, the carrier frequencies and variant spectrums of these diseases show regional differences, even within China.
Chenyang Xu, Yanbao Xiang, Xiaoling Lin, Qifan Ma, Yunzhi Xu, Huanzheng Li, Shaohua Tang, Xueqin Xu   +7 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

Assessment of demographic and perinatal predictors of non-response and impact of non-response on measures of association in a population-based case control study: findings from the Georgia Study to Explore Early Development

Emerging Themes in Epidemiology, 2018
Background Participation in epidemiologic studies has declined, raising concerns about selection bias. While estimates derived from epidemiologic studies have been shown to be robust under a wide range of scenarios, additional empiric study is needed ...
Laura A. Schieve, Shericka Harris, Matthew J. Maenner, Aimee Alexander, Nicole F. Dowling   +4 more
doaj   +1 more source

Metastasis on pause: How dormant tumor cells stay hidden within the tumor microenvironment and evade immune surveillance

Molecular Oncology, EarlyView.
Dormant cancer cells can hide in distant organs for years, evading treatment and the immune system. This review highlights how signals from the surrounding tissue and immune environment keep these cells inactive or trigger their reawakening. Understanding these mechanisms may help develop therapies to eliminate or control dormant cells and prevent ...
Kanishka Tiwary, Jose Javier Bravo‐Cordero   +1 more
wiley   +1 more source

Loss of IGF‐1R impairs DNA‐PKcs recruitment to chromatin leading to defective end‐joining

Molecular Oncology, EarlyView.
IGF‐1R promotes radioresistance by facilitating DNA‐PKcs recruitment to chromatin, enabling non‐homologous end‐joining (NHEJ) repair of double‐strand breaks. Inhibition or loss of IGF‐1R disrupts this recruitment to damage sites, driving compensatory reliance on microhomology‐mediated end‐joining (MMEJ) repair.
Matthew O. Ellis, Jack V. Mills, Wojciech Niedzwiedz, Valentine M. Macaulay   +3 more
wiley   +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source