Results 71 to 80 of about 188,720 (256)

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

Modelling stem cell differentiation related processes—A practical overview for biologists

FEBS Letters, EarlyView.
Stem cell differentiation is complex and difficult to control experimentally. This review introduces suitable computational modelling approaches that can support stem cell research, from mechanistic ODE and abstract models to multiscale and deep learning methods.
Ricco Zeegelaar, Xinqi Yan, Lucas F. Jansen Klomp, Stefano Schivo, Janine N. Post   +4 more
wiley   +1 more source

Reconstructing enzyme evolution by protein engineering

FEBS Letters, EarlyView.
Natural enzyme evolution can be retraced by protein engineering methods such as directed evolution, rational design, and ancestral sequence reconstruction. These approaches reveal how enzymes emerged from ligand‐binding scaffolds, developed varying substrate preferences, formed oligomeric complexes, adapted to environmental changes, and evolved novel ...
Lukas Drexler, Markus R. Busch, Reinhard Sterner   +2 more
wiley   +1 more source

Investigating transcription factor dynamics in health and disease using FRAP

FEBS Letters, EarlyView.
FRAP analysis of GFP‐tagged transcription factors reveals how molecular mobility and target engagement change in response to drug treatment. By combining live‐cell imaging, quantitative model fitting, and statistical analysis, this approach uncovers transcription factor dynamics linked to disease mechanisms, providing a powerful framework for ...
Kannan Govindaraj, Carolina Vazquez Garzon, Jose Joaquin Velasco, Janine N. Post   +3 more
wiley   +1 more source

Conserved binding mode but diverse interfaces of MreC‐PBP2 interactions

FEBS Letters, EarlyView.
The crystal structure of abMreC reveals a conserved two β‐barrel architecture and provides structural insights into its role within the bacterial elongasome. The abMreC–abPBP2 complex model identifies the molecular basis of MreC‐mediated PBP2 recognition, contributing to the regulation of peptidoglycan synthesis.
Hyunseok Jang, Hyo Been Jin, Chang Min Kim, So Yeon Lee, Hyun Ho Park   +4 more
wiley   +1 more source

Mitochondrial Copy Number and D-Loop Variants in Pompe Patients

Cell Journal, 2016
Objective: Pompe disease is a rare neuromuscular genetic disorder and is classified into two forms of early and late-onset. Over the past two decades, mitochondrial abnormalities have been recognized as an important contributor to an array of ...
Fatemeh Bahreini, Massoud Houshmand, Mohammad Hossein Modaresi, Hassan Tonekaboni, Shahriar Nafissi, Ferdoss Nazarisi, Seyed Mohammad Akrami   +6 more
doaj  

Comparison of autism domains across thirty rare variant genotypesResearch in context

EBioMedicine
Summary: Background: A number of Neurodevelopmental risk Copy Number Variants (ND-CNVs) and Single Gene Variants (SGVs) are strongly linked to elevated likelihood of autism.
Nabila M.H. Ali, Samuel J.R.A. Chawner, Leila Kushan-Wells, Carrie E. Bearden, Jennifer Gladys Mulle, Rebecca M. Pollak, Raquel E. Gur, Wendy K. Chung, Michael J. Owen, Marianne B.M. van den Bree, Harriet Housby, Irene Lee, David Skuse, Jeanne Wolstencroft, William Mandy, Spiros Denaxas, Kate Baker, Lucy Raymond, Marianne van den Bree, Samuel Chawner, Jeremy Hall, Peter Holmans, Josh Hope-Bell, Danielle Le Roux, Sally Morrin, Michael Owen, Shreeya Sivakumar   +26 more
doaj   +1 more source

Chromosomal Microarray Testing and Epilepsy

Pediatric Neurology Briefs, 2014
Investigators at the Boston Children's Hospital, MA, and other centers evaluated the role of copy number variants (CNVs) detected using chromosomal microarray (CMA) testing in 805 patients seen between 2006 and 2011 and having ICD-9 codes for epilepsy or
J Gordon Millichap, John J Millichap
doaj   +1 more source

An epithelial GPR35 isoform supports tumor‐associated transcriptional and metabolic phenotypes

FEBS Letters, EarlyView.
GPR35 generates two functionally distinct isoforms with previously unresolved roles. GPR35‐short mediates immune‐cell chemotaxis, while GPR35‐long is enriched in colorectal cancer epithelium, where it supports increased metabolism, proliferation, and tumor‐associated transcriptional programs.
Jørgen D. Rønneberg, Martine Hjeltnes, Josephine Krieger, Joshua E. Elias, Maria Stensland, Kristian Holm, Xiaojun Jiang, Chuki Khangsar, Tuula A. Nyman, Arthur Kaser, Johannes R. Hov, Tom H. Karlsen, Nicole C. Kaneider, Frode L. Jahnsen, Georg Schneditz   +14 more
wiley   +1 more source

Epigenetic reprogramming of lineage switching in cancer

FEBS Letters, EarlyView.
Cancer cells rarely commit to a single identity. Epigenetic mechanisms and tumor microenvironment cues push epithelial cells toward flexible, hybrid states that can shift into mesenchymal, neuroendocrine, or stem‐like fates, driving metastasis, drug resistance, and tumor heterogeneity. Targeting the epigenetic regulators behind these transitions, using
Ezgi Boyvatlı, Burcu Akman, Ezgi Bağırsakçı, Nese Atabey, Serap Erkek‐Ozhan   +4 more
wiley   +1 more source