Results 91 to 100 of about 26,757 (246)

Comparison of TCF4 repeat expansion length in corneal endothelium and leukocytes of patients with Fuchs endothelial corneal dystrophy.

PLoS ONE, 2021
Expansion of CTG trinucleotide repeats (TNR) in the transcription factor 4 (TCF4) gene is highly associated with Fuchs Endothelial Corneal Dystrophy (FECD).
Eric D Wieben, Ross A Aleff, Tommy A Rinkoski, Keith H Baratz, Shubham Basu, Sanjay V Patel, Leo J Maguire, Michael P Fautsch   +7 more
doaj   +1 more source

Telomere‐to‐telomere genome assembly of linseed (Linum usitatissimum L.) for functional genomics and accelerated genetic improvement

Plant Biotechnology Journal, EarlyView.
Summary Linseed (Linum usitatissimum L.), a member of the Linaceae family, is a versatile crop valued for its oil, fibre, nutritional and medicinal applications. Recognized as a superfood, linseed is rich in omega‐3 fatty acid (~55%), lignans, high‐quality proteins, dietary fibre and bioactive secondary metabolites.
Hemant Kumar Yadav, Neha Singh, Babita Singh, Vikender Kaur, Samir V. Sawant   +4 more
wiley   +1 more source

Characterization of bacteriophage communities and CRISPR profiles from dental plaque. [PDF]

, 2014
BackgroundDental plaque is home to a diverse and complex community of bacteria, but has generally been believed to be inhabited by relatively few viruses.
Abeles, Shira R, Boehm, Tobias K, Naidu, Mayuri, Pride, David T, Robles-Sikisaka, Refugio   +4 more
core   +2 more sources

Mosaic variants of neurodevelopmental and mitochondrial genes in postmortem paraventricular thalamus in bipolar disorder detected by deep exome sequencing

Psychiatry and Clinical Neurosciences, EarlyView.
Aim The genetic architecture of bipolar disorder (BD) remains incompletely understood despite extensive genomic studies. Postzygotic mosaic variants have emerged as promising contributors to BD; however, the landscape of such variants in the BD brain has yet to be elucidated.
Masaki Nishioka, Zen‐ichi Tanei, Yuko Saito, Maho Morishima, Mizuki Hino, Kanako Mori, Atsuko Nagaoka, Risa Shishido, Rie Saito, Hideaki Kitamura, Akito Nagakura, Araki Kimura, Shuji Iritani, Kenichi Oshima, Akiyoshi Kakita, Yasuto Kunii, Shigeo Murayama, Tadafumi Kato   +17 more
wiley   +1 more source

Molecular labeling of the CGG trinucleotide repeat [PDF]

Nucleic Acids Symposium Series, 2005
The new molecular ligand naphthyridine carbamate dimer (NC), possessing 2-amino-1,8-naphthyridines and a carbamate linker, specially binds to guanine-guanine (G-G) mismatch in duplex DNA. The results of T(m) measurements showed that NC selectively bound to CGG/CGG triad with high deltaT(m) of 23.1 degrees C.
Kazuhiko Nakatani, Tao Peng
openaire   +3 more sources

Association and linkage studies between bipolar affective disorder and the polymorphic CAG/CTG repeat loci ERDA1, SEF2-1B, MAB21L and KCNN3 [PDF]

, 2001
Several reports have suggested the presence of anticipation in bipolar affective disorder (BPAD). in addition, independent studies using the RED (repeat expansion detection) have shown association between BPAD and longer CAG/CTG repeats.
Krieger, J. E., Meira-Lima, Ivanor Velloso, Pereira, A. C., Sham, P., Vallada, H., Zhao, J.   +5 more
core   +1 more source

Expanding the Spectrum of Canine Diffuse Large B‐Cell Lymphoma Genetic Aberrations Through Whole Genome Sequencing Analysis

Veterinary and Comparative Oncology, EarlyView.
ABSTRACT Diffuse large B‐cell lymphoma (DLBCL) is one of the most prevalent haematological malignancies in both humans and dogs, characterised in both species by significant clinical heterogeneity and limited prognostic predictability. With the introduction of next‐generation sequencing (NGS) technologies in veterinary medicine over the past decade ...
Antonella Fanelli, Eugenio Mazzone, Diana Giannuzzi, Laura Marconato, Luca Aresu   +4 more
wiley   +1 more source

Synchronous endometrial/cervical and ovarian/fallopian tube carcinoma: a genome‐wide mutation analysis

The Journal of Pathology: Clinical Research, Volume 11, Issue 5, September 2025.
Abstract In this study, we explored the genomic underpinnings of synchronous endometrial and ovarian/fallopian tube carcinoma (SEOC) and synchronous cervical and ovarian/fallopian tube carcinoma (SCOC), focusing on their clonal relationships to discern whether these malignancies represent dual primary tumors (DPTs) or have metastatic origins.
Lihong Li, Mengfei Yao, Luyuan Li, Susheng Shi, Yan Song   +4 more
wiley   +1 more source

Structural basis for the sequence-specific RNA-recognition mechanism of human CUG-BP1 RRM3 [PDF]

, 2009
The CUG-binding protein 1 (CUG-BP1) is a member of the CUG-BP1 and ETR-like factors (CELF) family or the Bruno-like family and is involved in the control of splicing, translation and mRNA degradation.
Güntert, Peter, Inoue, Makoto, Kigawa, Takanori, Kobayashi, Naohiro, Kuwasako, Kanako, Muto, Yutaka, Shirouzu, Mikako, Someya, Tatsuhiko, Sugano, Sumio, Takahashi, Mari, Tanaka, Akiko, Terada, Takaho, Tsuda, Kengo, Yokoyama, Shigeyuki   +13 more
core   +2 more sources

Neuroimaging Biomarkers for Friedreich Ataxia: A Cross‐Sectional Analysis of the TRACK‐FA Study

Annals of Neurology, Volume 98, Issue 2, Page 386-397, August 2025.
Objective We aimed to quantify differences in the brain and spinal cord between Friedreich ataxia and controls, stratified by age and disease stage, including for the first time in young children. Methods TRACK‐FA is the largest prospective, longitudinal, multi‐modal neuroimaging study in Friedreich ataxia to date.
Nellie Georgiou‐Karistianis, Louise A. Corben, Eric F. Lock, Helena Bujalka, Isaac Adanyeguh, Manuela Corti, Dinesh K. Deelchand, Martin B. Delatycki, Imis Dogan, Jennifer Farmer, Marcondes C. França Jr., Anthony S. Gabay, William Gaetz, Ian H. Harding, James Joers, Michelle A. Lax, Jiakun Li, David R. Lynch, Thomas H. Mareci, Alberto R. M. Martinez, Massimo Pandolfo, Marina Papoutsi, Richard G. Parker, Kathrin Reetz, Thiago J.R. Rezende, Timothy P. Roberts, Sandro Romanzetti, David A. Rudko, Susmita Saha, Jörg B. Schulz, Sub H. Subramony, Veena G. Supramaniam, Christophe Lenglet, Pierre‐Gilles Henry   +33 more
wiley   +1 more source