Results 61 to 70 of about 182,078 (261)
Human subtelomeric copy number variations [PDF]
Cytogenetic and Genome Research, 2008 Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions (‘Subtelomeric Repeats’) comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an ...
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Childhood aplastic anemia (AA) is a rare disease, and both the disease itself and its treatment cause significant morbidity. We aimed to determine the contemporary incidence of childhood AA in Finland, to compare the clinical characteristics of AA against inherited bone marrow failure syndromes (IBMFS) and refractory cytopenia of ...
Lauri‐Matti Kulmala +8 more
wiley +1 more source
Analysis of copy number variations of WNT4 gene in a Chinese population with Müllerian anomalies
Orphanet Journal of Rare Diseases, 2021 Background To investigate the genetic contribution of copy number variations (CNVs) in Wingless-type MMTV integration site family, member 4 (WNT4), in a Chinese population with Müllerian anomalies (MA), copy number analysis of WNT4 by Multiplex ligation ...
Ying Zhu +6 more
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FEBS Letters, EarlyView.In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai +9 more
wiley +1 more source
Frontiers in Veterinary Science, 2022 Copy number variation (CNV) has been considered to be an important source of genetic variation for important phenotypic traits of livestock. In this study, we performed whole-genome CNV detection on Suhuai (SH) (n = 23), Chinese Min Zhu (MZ) (n = 11 ...
Chunlei Zhang +8 more
doaj +1 more source
Structural insights into an engineered feruloyl esterase with improved MHET degrading properties
FEBS Letters, EarlyView.A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa +5 more
wiley +1 more source
An [Imperfect] Case for Dyadic Research in Pediatric Psychosocial Oncology
Pediatric Blood &Cancer, EarlyView.
Stephanie M. Nanos +2 more
wiley +1 more source
FEBS Letters, EarlyView.Plasma membranes contain dynamic nanoscale domains that organize lipids and receptors. Because viruses operate at similar scales, this architecture shapes early infection steps, including attachment, receptor engagement, and entry. Using influenza A virus and HIV‐1 as examples, we highlight how receptor nanoclusters, multivalent glycan interactions ...
Jan Schlegel, Christian Sieben
wiley +1 more source
The significance of copy number variations in schizophrenia [PDF]
British Journal of Psychiatry, 2014 Rees et al [1][1] seek to replicate the association with schizophrenia of copy number variants (CNVs) involving putative schizophrenia loci in a large case-control study. They conclude that 11 of the 15 previously implicated loci were strongly associated with schizophrenia.
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FEBS Letters, EarlyView.Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil +4 more
wiley +1 more source