Results 71 to 80 of about 288,493 (295)

Methods and strategies for analyzing copy number variation using DNA microarrays [PDF]

Nature Genetics, 2007
The association of DNA copy-number variation (CNV) with specific gene function and human disease has been long known, but the wide scope and prevalence of this form of variation has only recently been fully appreciated. The latest studies using microarray technology have demonstrated that as much as 12% of the human genome and thousands of genes are ...
openaire   +2 more sources

Diversity in coding tandem repeats in related spp. [PDF]

, 2003
This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL - © 2003 Jordan et al; licensee BioMed Central Ltd ...
Jordan, P, Saunders, NJ, Snyder, LAS
core   +4 more sources

An upstream open reading frame regulates expression of the mitochondrial protein Slm35 and mitophagy flux

FEBS Letters, EarlyView.
This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva, Ariann E. Mendoza‐Martínez, P. Abril Medina‐Flores, Carlos Campero‐Basaldua, Alexander DeLuna, Soledad Funes   +5 more
wiley   +1 more source

Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2017
Next-generation sequencing (NGS) and array-based comparative genomic hybridization (array CGH) have enabled us to perform high-throughput mutation screening and genome-wide copy number analysis, respectively.
Maki Fukami, Mami Miyado
doaj   +1 more source

Loss of the candidate tumor suppressor ZEB1 (TCF8, ZFHX1A) in Sézary syndrome [PDF]

, 2018
Cutaneous T-cell lymphoma is a group of incurable extranodal non-Hodgkin lymphomas that develop from the skin-homing CD4+ T cell. Mycosis fungoides and Sézary syndrome are the most common histological subtypes.
Benucci, Roberto, Bresin, Antonella, Caprini, Elisabetta, Cristofoletti, Cristina, Helmer Citterich, Mauro, Monopoli, Alessandro, Narducci, Maria Grazia, Russo, Giandomenico, Scala, Enrico, Tocco, Valeria   +9 more
core   +2 more sources

In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS

FEBS Letters, EarlyView.
We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka, Yuxi Liu, Stefano Maggi, Debnath Ghosal, Jue Wang, Prashant P. Damke, Stephen D. Carter, Wei Zhao, Sukhithasri Vijayrajratnam, Joseph P. Vogel, Carrie L. Shaffer, Grant J. Jensen   +11 more
wiley   +1 more source

Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays [PDF]

BMC Genomics, 2007
Array-based comparative genomic hybridization (aCGH) is a high-throughput method for measuring genome-wide DNA copy number changes. Current aCGH methods have limited resolution, sensitivity and reproducibility. Microarrays for aCGH are available only for a few organisms and combination of aCGH data with expression data is cumbersome.We present a novel ...
Wenger Gail D, Yang Yan, Yu Chack-Yung, Singh Sunita, McHugh Kirk M, Nowak Norma J, Newsom David L, Auer Herbert, Gastier-Foster Julie M, Kornacker Karl   +9 more
openaire   +3 more sources

Sequence determinants of RNA G‐quadruplex unfolding by Arg‐rich regions

FEBS Letters, EarlyView.
We show that Arg‐rich peptides selectively unfold RNA G‐quadruplexes, but not RNA stem‐loops or DNA/RNA duplexes. This length‐dependent activity is inhibited by acidic residues and is conserved among SR and SR‐related proteins (SRSF1, SRSF3, SRSF9, U1‐70K, and U2AF1).
Naiduwadura Ivon Upekala De Silva, Puspa Kunwar, Md Ibnul Rifat Rahman, Joanna Koryo Kwao, Nathan Lehman, Zihan Zhang, Trenton Paul, Claire Cheng, Nicholas Truex, Hui‐Ting Lee, Jun Zhang   +10 more
wiley   +1 more source

Accuracy of expanded noninvasive prenatal testing for maternal copy number variations: A comparative study with CNV-seq of maternal lymphocyte DNA

Taiwanese Journal of Obstetrics & Gynecology
Objective: To evaluate the accuracy of expanded noninvasive prenatal testing (NIPT) for maternal copy number variations. Materials and methods: Expanded NIPT was used to detect CNVs ≥2 Mb at a whole-genome scale.
Honglei Duan, Wanjun Wang, Ying Zhang, Xuemei Chen, Zihan Jiang, Jie Li   +5 more
doaj   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source