Results 31 to 40 of about 388,485 (239)

Universal power law behaviors in genomic sequences and evolutionary models

, 2007
We study the length distribution of a particular class of DNA sequences known as 5'UTR exons. These exons belong to the messanger RNA of protein coding genes, but they are not coding (they are located upstream of the coding portion of the mRNA) and are ...
Loredana Martignetti, Michele Caselle, R. Durbin   +2 more
core   +1 more source

Computational prediction of splicing regulatory elements shared by Tetrapoda organisms [PDF]

, 2009
Background: auxiliary splicing sequences play an important role in ensuring accurate and efficient splicing by promoting or repressing recognition of authentic splice sites.
Churbanov, Alexander, Hicks, Chindo, Vořechovský, Igor   +2 more
core   +3 more sources

Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +1 more source

The thioredoxin‐like and one glutaredoxin domain are required to rescue the iron‐starvation phenotype of HeLa GLRX3 knock out cells

FEBS Letters, EarlyView.
Glutaredoxin (Grx) 3 proteins contain a thioredoxin domain and one to three class II Grx domains. These proteins play a crucial role in iron homeostasis in eukaryotic cells. In human Grx3, at least one of the two Grx domains, together with the thioredoxin domain, is essential for its function in iron metabolism.
Laura Magdalena Jordt, Manuela Gellert, Finja Zelms, Sander Bekeschus, Christopher Horst Lillig   +4 more
wiley   +1 more source

A putative exonic splicing enhancer in exon 7 of thePDHA1 gene affects splicing of adjacent exons [PDF]

Human Mutation, 2008
A nonsense mutation (c.729C>A, Y243X) in exon 7 of the PDHA1 gene in a patient with pyruvate dehydrogenase deficiency results in aberrant splicing of the primary transcript with production of stable mRNAs which lack either both exons 6 and 7 or exon 7 alone.
Ridout, C, Keighley, P, Krywawych, S, Brown, R, Brown, G   +4 more
openaire   +3 more sources

Inhomogeneous DNA: conducting exons and insulating introns

, 2009
Parts of DNA sequences known as exons and introns play very different role in coding and storage of genetic information. Here we show that their conducting properties are also very different.
A. A. Krokhin, B. L. Al’tshuler, D. J. Thouless, F. M. Izrailev, L. Brillouin, O. V. Usatenko, V. A. Yampol’skii, V. M. K. Bagci   +7 more
core   +2 more sources

Expression of the plasma prekallikrein gene: utilization of multiple transcription start sites and alternative promoter regions [PDF]

, 2005
The plasma prekallikrein gene is expressed in many different human tissues at distinctly different levels and therefore tissue-specific control of the gene transcription is likely.
Akita, Bhoola, Colman, Davie, DiScipio, Hauert, Ichinose, Motta, Motta, Neth, Schapira, Smale, Suzuki   +12 more
core   +1 more source

Obesity alters the fitness of peritumoral adipose tissue, exacerbating tumor invasiveness in renal cancer through the induction of ADAM12 and CYP1B1

Molecular Oncology, EarlyView.
Tumor microenvironment drives cancer formation and progression. We analyzed the role of human cancer‐associated adipocytes from patients with renal cell carcinoma (RCC) stratified as lean, overweight, or obese. RNA‐seq demonstrated that, among the most altered genes involved in the tumor–stroma crosstalk, are ADAM12 and CYP1B1, which were proven to be ...
Sepehr Torabinejad, Caterina Miro, Annarita Nappi, Francesco Del Giudice, Annunziata Gaetana Cicatiello, Serena Sagliocchi, Lucia Acampora, Federica Restolfer, Melania Murolo, Emery Di Cicco, Federico Capone, Ciro Imbimbo, Monica Dentice, Felice Crocetto   +13 more
wiley   +1 more source

Detection rate for ESR1 mutations is higher in circulating‐tumor‐cell‐derived genomic DNA than in paired plasma cell‐free DNA samples as revealed by ddPCR

Molecular Oncology, EarlyView.
Analysis of ESR1 mutations in plasma cell‐free DNA (cfDNA) is highly important for the selection of treatment in patients with breast cancer. Using multiplex‐ddPCR and identical blood draws, we investigated whether circulating tumor cells (CTCs) and cfDNA provide similar or complementary information for ESR1 mutations.
Stavroula Smilkou, Aliki Ntzifa, Victoria Tserpeli, Ioanna Balgkouranidou, Alkistis Papatheodoridi, Evangelia Razis, Helena Linardou, Christos Papadimitriou, Amanda Psyrri, Flora Zagouri, Stylianos Kakolyris, Evi Lianidou   +11 more
wiley   +1 more source

Functional Analysis Of The Mutations Of E Cadherin Exon 4-5, Exon 7, Exon 8, Exon 9 And Exon 16 In Sporadic Infiltrating Ductal Carcinoma Of The Breast [PDF]

IOSR Journal of Dental and Medical Sciences, 2014
E-cadherin mutations are a major step in the metastatic progression. Mutated cadherins contributes to different aspects of cancer progression like drug resistance, angiogenesis, cancer cell invasion and metastasis. Thus cadherins can be regarded as a valuable diagnostic and prognostic indicators as well as potential therapeutic targets of cancer ...
Revathi Kasthuri, Malathi Veeramani
openaire   +1 more source