Results 91 to 100 of about 475,380 (299)

Inhibiting stearoyl‐CoA desaturase suppresses bone metastatic prostate cancer by modulating cellular stress, mTOR signaling, and DNA damage response

FEBS Letters, EarlyView.
Bone metastasis in prostate cancer (PCa) patients is a clinical hurdle due to the poor understanding of the supportive bone microenvironment. Here, we identify stearoyl‐CoA desaturase (SCD) as a tumor‐promoting enzyme and potential therapeutic target in bone metastatic PCa.
Alexis Wilson, Mackenzie K Herroon, Shane Mecca, Laimar C Garmo, Jacob Lindquist, Shrila Rajendran, Steve M. Patrick, Izabela Podgorski   +7 more
wiley   +1 more source

Exploring correlations among copy number variants

Open Journal of Genetics, 2012
There have been a great many recent studies investigating the extent of Copy Number Variation in the genomes of various species such as human, cattle, dogs and many others. The results from these studies indicate that the extent of the Copy Number Variation in the genome is considerable, and that in humans and in cattle, frequencies of different Copy ...
Joseph Abraham, Thomas LaFramboise
openaire   +2 more sources

The Coalescent with Selection on Copy Number Variants [PDF]

Genetics, 2012
AbstractWe develop a coalescent-based simulation tool to generate patterns of single nucleotide polymorphisms (SNPs) in a wide region encompassing both the original and duplicated genes. Selection on the new duplicated copy and interlocus gene conversion between the two copies are incorporated.
Kosuke M, Teshima, Hideki, Innan
openaire   +2 more sources

Mechanisms of IgE‐mediated food allergy and the role of allergen‐specific B cells

FEBS Letters, EarlyView.
Food allergy arises when allergen‐specific B cells preferentially produce immunoglobulin E (IgE) antibodies against harmless foods. This article explains the mechanisms driving IgE‐mediated reactions, highlights the central role of these B cells, and discusses how natural tolerance (NT) and oral immunotherapy (OIT) can reshape allergic immune responses.
Juan‐Felipe López, Özge Yilmaz Ardicli, Mübeccel Akdis   +2 more
wiley   +1 more source

Copy number variation across European populations.

PLoS ONE, 2011
Genome analysis provides a powerful approach to test for evidence of genetic variation within and between geographical regions and local populations. Copy number variants which comprise insertions, deletions and duplications of genomic sequence provide ...
Wanting Chen, Caroline Hayward, Alan F Wright, Andrew A Hicks, Veronique Vitart, Sara Knott, Sarah H Wild, Peter P Pramstaller, James F Wilson, Igor Rudan, David J Porteous   +10 more
doaj   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source

Structural insights into an engineered feruloyl esterase with improved MHET degrading properties

FEBS Letters, EarlyView.
A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa, Konstantinos Makryniotis, Theofani‐Iosifina Sousani, Evangelos Topakas, Vangelis Daskalakis, Maria Dimarogona   +5 more
wiley   +1 more source

Next-generation variant exon screening: Moving forward in routine genetic disease investigations

Genetics in Medicine Open
Purpose: Patients with genetic diseases often seek testing to reach a firm diagnosis. Based on clinical phenotypes, exome sequencing for small-nucleotide variations or array-based methods for copy-number variations (CNVs) are commonly offered to identify
Conghui Wang, Panlai Shi, Hongbin Liang, David S. Cram, Donald A. Leigh, Xiangdong Kong   +5 more
doaj   +1 more source

Rare copy number variants contribute to congenital left-sided heart disease.

PLoS Genetics, 2012
Left-sided congenital heart disease (CHD) encompasses a spectrum of malformations that range from bicuspid aortic valve to hypoplastic left heart syndrome. It contributes significantly to infant mortality and has serious implications in adult cardiology.
Marc-Phillip Hitz, Louis-Philippe Lemieux-Perreault, Christian Marshall, Yassamin Feroz-Zada, Robbie Davies, Shi Wei Yang, Anath Christopher Lionel, Guylaine D'Amours, Emmanuelle Lemyre, Rebecca Cullum, Jean-Luc Bigras, Maryse Thibeault, Philippe Chetaille, Alexandre Montpetit, Paul Khairy, Bert Overduin, Sabine Klaassen, Pamela Hoodless, Philip Awadalla, Julie Hussin, Youssef Idaghdour, Mona Nemer, Alexandre F R Stewart, Cornelius Boerkoel, Stephen W Scherer, Andrea Richter, Marie-Pierre Dubé, Gregor Andelfinger   +27 more
doaj   +1 more source

A methionine‐lined active site governs carbocation stabilization and product specificity in a bacterial terpene synthase

FEBS Letters, EarlyView.
This study reveals a unique active site enriched in methionine residues and demonstrates that these residues play a critical role by stabilizing carbocation intermediates through novel sulfur–cation interactions. Structure‐guided mutagenesis further revealed variants with significantly altered product profiles, enhancing pseudopterosin formation. These
Marion Ringel, Carl P. O. Helmer, Shani Zev, Ronja Driller, Emily Buhr, Markus Reinbold, Renana Schwartz, Gabriel Foley, Mikael Boden, Daniel Garbe, Gerhard Schenk, Dan Thomas Major, Bernhard Loll, Thomas Brück   +13 more
wiley   +1 more source