Results 51 to 60 of about 3,786,126 (364)

Neurodevelopmental Disorders Associated with Chromosome 15 [PDF]

, 2011
Chromosome 15 is a focus of increasing interest to both psychiatry and neurology. Several neurodevelopmental disorders are genetically associated with this autosome, including Prader-Willi syndrome, Angelman syndrome, Dyslexia, Autism, Hyperlexia, Ring ...
Sieg, M.D., Karl G.
core   +1 more source

Autophagy in cancer and protein conformational disorders

FEBS Letters, EarlyView.
Autophagy plays a crucial role in numerous biological processes, including protein and organelle quality control, development, immunity, and metabolism. Hence, dysregulation or mutations in autophagy‐related genes have been implicated in a wide range of human diseases.
Sergio Attanasio
wiley   +1 more source

Oxidative Stress and Down Syndrome: A Systematic Review

Antioxidants
Down syndrome (DS), the most common human aneuploidy, is associated with oxidative stress, which contributes to morphological abnormalities, immune dysfunction, cognitive impairment and accelerated ageing.
Goran Slivšek, Sandra Mijač, Ivan Dolanc, Marija Fabijanec, Silvija Petković, Renato Mautner, Karmen Lončarek, Josip Kranjčić, Alenka Boban Blagaić, Marin Marinović, Ksenija Vitale, Donatella Verbanac, Miran Čoklo, Jadranka Vraneković   +13 more
doaj   +1 more source

A gain-of-function mutation of JAK2 in myeloproliferative disorders.

New England Journal of Medicine, 2005
BACKGROUND Polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis are clonal myeloproliferative disorders arising from a multipotent progenitor.
R. Kralovics, F. Passamonti, A. Buser, Soon-Siong Teo, R. Tiedt, J. Passweg, A. Tichelli, M. Cazzola, R. Skoda   +8 more
semanticscholar   +1 more source

B cell mechanobiology in health and disease: emerging techniques and insights into therapeutic responses

FEBS Letters, EarlyView.
B cells sense external mechanical forces and convert them into biochemical signals through mechanotransduction. Understanding how malignant B cells respond to physical stimuli represents a groundbreaking area of research. This review examines the key mechano‐related molecules and pathways in B lymphocytes, highlights the most relevant techniques to ...
Marta Sampietro, Marco Cellani, Cristina Scielzo   +2 more
wiley   +1 more source

Chromosome 1p13 genetic variants antagonize the risk of myocardial infarction associated with high ApoB serum levels [PDF]

, 2012
PMCID: PMC3480949This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided ...
A Dempfle, AP Burke, B Gigante, B Gigante, Bruna Gigante, C Reuterwall, C Schmegner, CJ Willer, CS Greene, D Altshuler, E Jakkula, E Salmela, E Zotova, J Karvanen, JP Ioannidis, KA Eagle, Karin Leander, KJ Rothman, KT Zondervan, M Lundberg, Max Vikström, MS Sandhu, NJ Samani, NJ Samani, P Linsel-Nitschke, S Kathiresan, S Kathiresan, S Kathiresan, S Purcell, S Sanna, Shu Ye, TA Manolio, Ulf de Faire, YJ Liu   +33 more
core   +2 more sources

Chromosome errors in human eggs shape natural fertility over reproductive life span

Science, 2019
Understanding fertility in young and old Fertility in humans follows a U-curve, with low rates in both teenagers and women of advancing maternal age (mid-30s and above). Gruhn et al.
J. Gruhn, A. Zielinska, V. Shukla, Robert C. Blanshard, A. Capalbo, D. Cimadomo, Dmitry Nikiforov, Andrew Chi-ho Chan, Louise J. Newnham, Ivan Vogel, C. Scarica, Marta Krapchev, Deborah Taylor, S. Kristensen, Junping Cheng, E. Ernst, A. B. Bjørn, L. Colmorn, M. Blayney, K. Elder, J. Liss, G. Hartshorne, M. L. Grøndahl, L. Rienzi, F. Ubaldi, R. McCoy, K. Lukaszuk, C. Andersen, M. Schuh, E. Hoffmann   +29 more
semanticscholar   +1 more source

Evolutionary interplay between viruses and R‐loops

FEBS Letters, EarlyView.
Viruses interact with specialized nucleic acid structures called R‐loops to influence host transcription, epigenetic states, latency, and immune evasion. This Perspective examines the roles of R‐loops in viral replication, integration, and silencing, and how viruses co‐opt or avoid these structures.
Zsolt Karányi, Zita Képes, Zoltán Szabó, Eszter Csoma, Lóránt Székvölgyi   +4 more
wiley   +1 more source

Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome. [PDF]

, 2019
ObjectivesOur ability to generate mental representation of magnitude from sensory information affects how we perceive and experience the world. Reduced resolution of the mental representations formed from sensory inputs may generate impairment in the ...
Amato, Michele, Cabaral, Margarita H, Cruz, Joshua, Durdle, Courtney, Harvey, Danielle, McCabe, Kathryn L, Popa, Abbie M, Simon, Tony J, Tartaglia, Nicole, Wong, Ling M   +9 more
core   +1 more source

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources