Results 111 to 120 of about 11,000,947 (301)

Research progress in copy number variation in ovarian cancer [PDF]

Xin yixue
Genetic variation is one of the important factors leading to the incidence and development of cancer. Copy number variation is an important source of genetic diversity， which can be expressed as gene amplification or deletion in structure， and is related
SUN Mengna, XU Ying, REN Chenlu, YAN Yufan, CHEN Zhihao, YANG Hong
doaj   +1 more source

From junk to function — How weak selection in eukaryotes builds new parts and drives genomic complexity

FEBS Letters, EarlyView.
How do genomes gain new functional parts? In eukaryotes, which tend to evolve under weak selection, much of the genome is junk. Palazzo and Qiu borrow the logic of Markov chains to show how non‐functional DNA becomes functional through the appearance of intermediate states, which arise due to epistasis, buffering, and biochemical messiness, allowing ...
Alexander F. Palazzo, Yi Qiu
wiley   +1 more source

Statistical methods in the analysis of copy number variation data [PDF]

, 2011
Copy number variation is a significant form of genetic variation that has been shown to influence many traits. However, current methods used to estimate copy number variation are imprecise and prone to errors.
Wineinger, Nathan
core  

MHC genotypes without Copy Number Variation

, 2016
MHC genotypes of 188 adults + 22 chicks assuming no Copy Number Variation, in a table of 211 rows x 9 columns. Genotypes were determined from Illumina sequencing based on an assumption of no Copy Number Variation as described in Supporting Information ...
Mauck, Robert A., Donald C. Dearborn (3274995), McArthur, Andrew G., Morgan E. Gilmour (3274983), Elena Mandzhukova (3274992), Gager, Andrea B., Mandzhukova, Elena, Andrea B. Gager (3274986), Andrew G. McArthur (64590), Robert A. Mauck (3274989), Dearborn, Donald C., Gilmour, Morgan E.   +11 more
core   +1 more source

Rare copy number deletions predict individual variation in intelligence.

PLoS ONE, 2011
Phenotypic variation in human intellectual functioning shows substantial heritability, as demonstrated by a long history of behavior genetic studies. Many recent molecular genetic studies have attempted to uncover specific genetic variations responsible ...
Ronald A Yeo, Steven W Gangestad, Jingyu Liu, Vince D Calhoun, Kent E Hutchison   +4 more
doaj   +1 more source

The role of miR‐335‐5p in the redifferentiation of BRAF p.V600E thyroid cancers

Molecular Oncology, EarlyView.
The BRAF p.V600E mutation promotes thyroid cancer dedifferentiation and radioiodine resistance. Using a network approach, we identified miR‐335‐5p as a key regulator of BRAF‐mutated thyroid tumors. Restoring miR‐335‐5p increased thyroid‐specific gene expression and iodine uptake in cells and organoids.
Valeria Pecce, Simone Bini, Marialuisa Sponziello, Giorgio Grani, Giulia Fiscon, Paola Paci, Lorenzo Farina, Rosa Falcone, Valentina Maggisano, Sebastiano Filetti, Cosimo Durante, Antonella Verrienti   +11 more
wiley   +1 more source

Accurate estimation of homologue-specific DNA concentration-ratios in cancer samples allows long-range haplotyping [PDF]

, 2011
Interpretation of allelic copy measurements at polymorphic markers in cancer samples presents distinctive challenges and opportunities. Due to frequent gross chromosomal alterations occurring in cancer (aneuploidy), many genomic regions are present at ...
Gad Getz, Matthew Meyerson, Scott L. Carter   +2 more
core  

Copy number variation in MODY diabetes - Familial case presentation

Genetics & Applications, 2018
MODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion.
Naida Lojo-Kadric, Zelija Velija Asimi, Jasmin Ramic, Ksenija Radic, Lejla Pojskic   +4 more
doaj   +1 more source

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source

Measurement and phenotypic consequences of ribosomal DNA copy number variation [PDF]

, 2021
Thesis (Ph.D.)--University of Washington, 2021The ribosomal DNA (rDNA) encodes the ribosomal RNAs and is present in tens to thousands of tandemly repeated copies in eukaryotic genomes.
Hall, Ashley Nicole
core