Results 41 to 50 of about 1,534,713 (253)

Genetics of autistic disorders : review and clinical implications [PDF]

, 2009
Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy ...
Klauck, Sabine M., Duketis, Eftichia, Wouter Staal, Sabine M. Klauck, Christine M. Freitag, Regina Waltes, Freitag, Christine M., Staal, Wouter, Waltes, Regina, Eftichia Duketis   +9 more
core   +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

The Relationship between Skewed X-chromosome Inactivation and Neurological Disorders Development

International Clinical Neuroscience Journal, 2016
X-chromosome inactivation (XCI) is a process by which one of the copies of the X chromosome in mammalian female cells is inactivated. The XCI causes a balanced X-linked gene quantity between male and females; moreover, it results mosaic females which ...
Mahdi Taherian, Hossein Maghsoudi, Kazem Bidaki, Reza Taherian   +3 more
doaj   +1 more source

Understanding chromosome disorders and their implications for special educators [PDF]

, 2014
More children are now being diagnosed with chromosome abnormalities. Some chromosome disorder syndromes are relatively well known; while others are so rare that there is only limited evidence about their likely impact on learning and development.
Gilmore, Linda
core  

Identification of candidate genes for dyslexia susceptibility on chromosome 18 [PDF]

, 2010
Background: Six independent studies have identified linkage to chromosome 18 for developmental dyslexia or general reading ability. Until now, no candidate genes have been identified to explain this linkage.
Olson, R K, Pennington Bruce F., Anthony P. Monaco, Pennington, B F, Scerri, TS, Alex J. Richardson, Smith, SD, Talcott, J, Richard K. Olson, Alex J Richardson, MacPhie, I L, Joel Talcott, Bruce F Pennington, Stein, J, Monaco, AP, Morris Andrew, Pennington, BF, Olson Richard K., Silvia Paracchini, Macphie, IL, DeFries, J C, Anthony P Monaco, Thomas S Scerri, Smith, Shelley D., Richardson, Alex J., Olson, RK, I Laurence MacPhie, Stein, John, Shelley D. Smith, Pennington, Bruce F., Monaco, Anthony P., Defries, JC, Paracchini, Silvia, John Stein, Stein, John F., Scerri Thomas S., MacPhie I. Laurence, Talcott, Joel B., I. Laurence MacPhie, Richardson, Alexandra, Monaco, Anthony, Andrew Morris, John C. DeFries, Talcott Joel, Morris, Andrew, Smith, S D, Smith Shelley D., Talcott, Joel, Bruce F. Pennington, Monaco Anthony P., Olson, Richard K., MacPhie, I. Laurence, Morris, A, Richardson, AJ, Paracchini, S, DeFries, John C., DeFries John C., Shelley D Smith, Stein John, John C DeFries, Monaco, A P, Richard K Olson, Paracchini Silvia, Thomas S. Scerri, Scerri, Thomas S., Scerri, T S   +65 more
core   +1 more source

Microbiome‐blood–brain barrier interactions in aging — mechanisms and therapeutic potential

FEBS Letters, EarlyView.
Aging reshapes the gut microbiome (↓SCFA‐producing commensals; ↑pro‐inflammatory outputs), shifting circulating metabolites (↓SCFAs; ↑LPS, ↑TMAO, ↑PAA) that act at the BBB to increase nonspecific transcytosis, alter transport, and promote astrocyte reactivity, heightening brain vulnerability.
Daniel Cuervo‐Zanatta, Hari Baskar Balasubramanian, Amir Pasokh, Marietta Zille   +3 more
wiley   +1 more source

An Autosomal Translocation 73,XY,t(12;20)(q11;q11) in an Infertile Male Llama (Lama glama) With Teratozoospermia

Frontiers in Genetics, 2019
Structural chromosome abnormalities, such as translocations and inversions occasionally occur in all livestock species and are typically associated with reproductive and developmental disorders.
Malorie P. Baily, Felipe Avila, Pranab J. Das, Michelle A. Kutzler, Terje Raudsepp   +4 more
doaj   +1 more source

Chromosomal disorders and male infertility [PDF]

Asian Journal of Andrology, 2011
Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified.
Harton, Gary L., Tempest, Helen G., Ph.D.   +1 more
openaire   +3 more sources

The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary [PDF]

, 1994
Fluorescencein situ hybridization (FISH) of microlibraries established from distinct chromosome subregions can test the evolutionary conservation of chromosome bands as well as chromosomal rearrangements that occurred during primate evolution and will ...
Cremer, Thomas, Senger, G., Wienberg, Johannes, Claussen, U., Horsthemke, B., Arnold, N., Lüdecke, H. J., Jauch, Anna, Lengauer, Christoph   +8 more
core   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source