Kargapolova, Yulia Rehimi, Rizwan Kayserili, Hülya Brühl, Joanna Sofiadis, Konstantinos Zirkel, Anne Palikyras, Spiros Mizi, Athanasia Li, Yun Yigit, Gökhan
...
Published in
Nature Communications
Members of the CHD chromatin remodeler family are implicated in human pathologies, however CHD6 remained poorly studied. Here, the authors show that CHD6 binds to and regulates autophagy and stress response genes across cell types. They identify a clinical mutation that affects its ability to recruit cofactors, leading to impaired autophagy inducti...
Kolter, Roberto
Published in
Annual review of microbiology
Microbiology began as a unified science using the principles of chemistry to understand living systems. The unified view quickly split into the subdisciplines of medical microbiology, molecular biology, and environmental microbiology. The advent of a universal phylogeny and culture-independent approaches has helped tear down the boundaries separati...
Hanley, Steve J Pellny, Till K. de Vega, Jose J. Castiblanco, Valheria Arango, Jacobo Eastmond, Peter J. Heslop-Harrison, J. S. Mitchell, Rowan A. C.
The C4Urochloa species (syn. Brachiaria) and Megathyrsus maximus (syn. Panicum maximum) are used as pasture for cattle across vast areas in tropical agriculture systems in Africa and South America. A key target for variety improvement is forage quality: enhanced digestibility could decrease the amount of land required per unit production, and enhan...
Pihlstrøm, Lasse Fan, Chun C Frei, Oleksandr Tan, Manuela Karunamuni, Roshan A Blauwendraat, Cornelis Bandres-Ciga, Sara Gan-Or, Ziv Grosset, Donald G parkinson's, international
...
BackgroundParkinson's disease (PD) is a highly age-related disorder, where common genetic risk variants affect both disease risk and age at onset. A statistical approach that integrates these effects across all common variants may be clinically useful for individual risk stratification. A polygenic hazard score methodology, leveraging a time-to-eve...
Mohammed Kheir, Haya Dayoub, Mouhannad Haidar, Nour Mansour, Hanin Omran, Ammar Ibrahim, Ali Alshehabi, Zuheir
Published in
Clinical Medicine Insights. Case Reports
Intestinal diffuse ganglioneuromatosis is a rare, benign, neoplastic condition characterized by disseminated proliferation of neural elements. It has an established association with several systemic disorders including: multiple endocrine neoplasia IIB (MEN IIB) and von Recklinghausen’s disease. However, isolated GNs are very rare and sporadic. We ...
Effraimidis, Grigoris Feldt-Rasmussen, Ulla Rasmussen, Åse Krogh Lavoie, Pamela Abaoui, Mona Boutin, Michel Auray-Blais, Christiane
Published in
Journal of medical genetics
Recent studies showed the usefulness of globotriaosylsphingosine (lyso-Gb3) and related analogues, deacylated forms of globotriaosylceramide (Gb3), for high-risk screening, treatment monitoring and follow-up for patients with Fabry disease. We evaluated Gb3, lyso-Gb3 and analogues using tandem mass spectrometry in 57 women with Fabry disease follow...
Watson, Hunna J Palmos, Alish B Hunjan, Avina Baker, Jessica H Yilmaz, Zeynep Davies, Helena L
Published in
Psychological medicine
Enabled by advances in high throughput genomic sequencing and an unprecedented level of global data sharing, molecular genetic research is beginning to unlock the biological basis of eating disorders. This invited review provides an overview of genetic discoveries in eating disorders in the genome-wide era. To date, five genome-wide association stu...
Ronald, Angelica de Bode, Nora Polderman, Tinca J C
Published in
Journal of the American Academy of Child and Adolescent Psychiatry
To investigate, by systematically reviewing the literature, whether the attention-deficit/hyperactivity disorder (ADHD) polygenic risk score (PRS) associates with ADHD and related traits in independent clinical and population samples. PubMed, Embase and PsychoInfo were systematically searched, alongside study bibliographies. Quality assessments wer...
Machiela, Emily Rudich, Paige D Traa, Annika Anglas, Ulrich Soo, Sonja K Senchuk, Megan M Van Raamsdonk, Jeremy M
Published in
Aging and Disease
Huntington’s disease (HD) is an adult-onset neurodegenerative disease caused by a trinucleotide CAG repeat expansion in the HTT gene. While the pathogenesis of HD is incompletely understood, mitochondrial dysfunction is thought to be a key contributor. In this work, we used C. elegans models to elucidate the role of mitochondrial dynamics in HD. We...
Senev, Aleksandar Emonds, Marie-Paule Naesens, Maarten
Published in
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons
