Results 71 to 80 of about 1,071,201 (269)
Frontiers in PediatricsA 12-year-old girl with convulsions was incidentally found to be infected with hepatitis B virus(HBV), with HBVdeoxyribonucleic acid (DNA) and HBsAg positivity in the cerebrospinal fluid.
Yingxue Li +3 more
doaj +1 more source
A Biobank for Long-term and Sustainable Research in the Field of Congenital Heart Disease in Germany
Genomics, Proteomics & Bioinformatics, 2016 Congenital heart disease (CHD) is the most frequent birth defect (0.8%–1% of all live births). Due to the advance in prenatal and postnatal early diagnosis and treatment, more than 90% of these patients survive into adulthood today. However, several mid-
Thomas Pickardt +3 more
doaj +1 more source
The defective parking space and defective Kreweras numbers
Discrete MathematicsA defective $(m,n)$-parking function with defect $d$ is a parking function with $m$ cars attempting to park on a street with $n$ parking spots in which exactly $d$ cars fail to park. We establish a way to compute the defect of a defective $(m,n)$-parking function and show that the defect of a parking function is invariant under the action of $\mathfrak{
Rebecca E. Garcia +7 more
openaire +2 more sources
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 +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 +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 +10 more
wiley +1 more source
The Application of Clinical GeneticsYingwen Liu,1,2 Jiangyang Xue,1,2 Lulu Yan,1,2 Changshui Chen,2 Shumin Zhao,3 Haibo Li1,2 1The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children’s Hospital of Ningbo University, Ningbo, Zhejiang, 315000, People’
Liu Y +5 more
doaj
Molecular Genetics & Genomic MedicineIntroduction Meckel‐Gruber syndrome (MKS, OMIM 24,900), also known as Meckel syndrome, is a rare and severe autosomal recessive disorder. The syndrome is typically characterized by a triad of occipital encephalocele, bilateral renal cystic dysplasia, and
Qi Yang +8 more
doaj +1 more source
HeliyonObjective: Due to the high drug resistance and relapse rate of T-cell acute lymphoblastic leukemia (T-ALL), the prognosis is usually poor. Therefore, there is an urgent need to find safer and more effective therapeutic drugs. Huaier and its preparations,
Xiang Qin +5 more
doaj +1 more source
MITF maintains genome stability in nonmelanocyte lineages
Molecular Oncology, EarlyView.MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir +13 more
wiley +1 more source