Results 131 to 140 of about 21,238,868 (309)
Evolution‐guided yeast complementation reveals functional differences in human PSPH variants
FEBS Open Bio, EarlyView.Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez +6 more
wiley +1 more source
Dual native G‐quadruplex folding is associated with chromatin looping at the MYC locus
FEBS Open Bio, EarlyView.BG4‐detectable G‐quadruplex (G4) in HaCaT and NHEK keratinocytes identified folded and unfolded G4s enriched at promoters/TSSs and active enhancers, whereas unfolded G4s also overlapped weak/poised enhancers. At MYC–PVT1, 3C‐qPCR detected enhancer–promoter looping only when G4s were simultaneously folded at both regulatory elements under native ...
Dieila Giomo de Lima +7 more
wiley +1 more source
Acquired abnormalities of chromosome 21 in acute lymphoblastic leukaemia
, 2008 The intrachromosomal amplification of chromosome 21 (iAMP21) was identifiedas a novel and prognositically important acquired chromosomal abnormality inchildhood acute lymphoblastic leukaemia (ALL).
Robinson, Hazel M.
core +1 more source
Functional and molecular effects of chromosome 21 trisomy [PDF]
, 2010 Down Syndrome (DS) is the most frequent autosomal aneuploidy that is compatible with post-natal life. The DS phenotype has been attributed to overexpression of chromosome 21 (Hsa21) genes.
Izzo, Antonella
core +1 more source
Analysis of the role of the X/Y homologous gene family Xmr/Sly in murine spermiogenesis [PDF]
, 2009 Spermatogenesis is a complex, continuous developmental process that involves the formation of highly differentiated haploid sperm from diploid spermatogonial stem cells.
Reynard, L N, Reynard, L.N.
core
FEBS Open Bio, EarlyView.Glioblastoma cells express calcitonin receptor variants (CT receptor isoforms) that may help them survive stress. Using qPCR, transcript‐specific long‐read nanopore sequencing, immunofluorescence co‐localisation and comparative sequence analysis, this study identifies a novel alternatively spliced CALCR transcript that encodes the CTb receptor isoform ...
Pragya Gupta +7 more
wiley +1 more source
Genomics CommunicationsA recent analysis of the Silene latifolia Y chromosome has demonstrated that suppressed recombination drives its expansion into evolutionary strata and accelerates functional degeneration through transposable element accumulation, DNA hypermethylation ...
Dan Peng, Luke R. Tembrock, Liang Tang
doaj +1 more source
FEBS Open Bio, EarlyView.Using peripheral blood for determining B‐cell or T‐cell clonality is more reliable when we use cell‐free RNA (cfRNA) because cells release blood significantly more RNA than DNA. Next‐generation sequencing (NGS) of cfRNA allows us to evaluate fragment cfRNA and evaluate clonality reliably without the need for prior determination of the specific dominant
Adam Albitar +11 more
wiley +1 more source
Quantifying Y chromosome loss in primary and metastatic prostate cancer by chromosome painting.
PLoS ONESomatic Y chromosome loss in hematopoietic cells is associated with higher mortality in men. However, the status of the Y chromosome in cancer tissue is not fully known due to technical limitations, such as difficulties in labelling and sequencing DNA ...
Sai Harisha Rajanala +9 more
doaj +1 more source
A nomenclature system for the tree of human Y-chromosomal binary haplogroups
, 2002 The Y chromosome contains the largest nonrecombining block in the human genome. By virtue of its many polymorphisms, it is now the most informative haplotyping system, with applications in evolutionary studies, forensics, medical genetics, and ...
The Y Chromosome Consortium
core