Results 91 to 100 of about 88,833 (257)

Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome

Frontiers in Cardiovascular Medicine, 2018
Cardiomyopathies (CMs) are a group of cardiac pathologies caused by an intrinsic defect within the myocardium. The relative contribution of genetic mutations in the pathogenesis of certain CMs, such as hypertrophic cardiomyopathy (HCM), arrythmogenic ...
Oday F. Salman, Hebah M. El-Rayess, Charbel Abi Khalil, Georges Nemer, Marwan M. Refaat, Marwan M. Refaat   +5 more
doaj   +1 more source

pH‐mediated activation of the lysosomal arginine sensor SLC38A9

FEBS Letters, EarlyView.
Cells monitor nutrient levels via the lysosomal transporter SLC38A9 to activate the mechanistic target of rapamycin complex 1 (mTORC1). This study reveals that SLC38A9 function is regulated by pH. We identified histidine 544 as a critical pH sensor that undergoes conformational changes to control amino acid efflux from lysosomes; therefore, it ...
Xuelang Mu, Ampon Sae Her, Tamir Gonen
wiley   +1 more source

Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer. [PDF]

, 2015
BACKGROUND: Common genetic variants residing near upstream regulatory elements for MYB, the gene encoding transcription factor cMYB, promote the persistence of fetal hemoglobin (HbF) into adulthood. While they have no consequences in healthy individuals,
Soka, Deogratius, Harvest Mariki, Menzel, Stephan, Jeffrey C Barrett, Mariki, Harvest, Helen Rooks, Bruno Mmbando, Menzel, Stephan; id_orcid, Mmbando, Bruno, Tarjinder Singh, Stephan Menzel, Barrett, Jeffrey C., Sharon E Cox, Singh, Tarjinder, Mtatiro, Siana N, Barrett, Jeffrey C, Thein, Swee Lay, Deogratius Soka, Swee Lay Thein, Julie Makani, Mtatiro, Siana N., Siana N Mtatiro, Cox, Sharon E, Rooks, Helen, Mgaya, Josephine, Makani, Julie, Josephine Mgaya, Cox, Sharon E.   +27 more
core   +1 more source

Changes in Cis-regulatory Elements during Morphological Evolution

Biology, 2012
How have animals evolved new body designs (morphological evolution)? This requires explanations both for simple morphological changes, such as differences in pigmentation and hair patterns between different Drosophila populations and species, and also ...
Yu-Lee Paul, Stephen J. Gaunt
doaj   +1 more source

Biophysical approaches for studying viral entry

FEBS Letters, EarlyView.
Viruses infect all living organisms and have been responsible for major epidemics and pandemics. Their ongoing evolutionary battle with host defenses creates a constant need for improved tools to study viral behavior. Advancing methods to probe viral attachment, fusion, and genome release deepen our understanding of how infections begin and support the
Inbar Yosibash, Raya Sorkin
wiley   +1 more source

The human gut microbiome across the life course

FEBS Letters, EarlyView.
Despite significant individual variation and continuous change throughout life, the human gut microbiome follows some life stage‐specific trends. This article provides a brief overview of how gut microbiome composition shifts across different phases of life. Created in BioRender. Özkurt, E. (2026) https://BioRender.com/8q4nrnc.
Alise J. Ponsero, Basak Bahcivanci, Antonietta Hayhoe, Animesh Acharjee, Ezgi Özkurt   +4 more
wiley   +1 more source

Pleiotropy in enhancer function is encoded through diverse genetic architectures

, 2017
Developmental genes can have complex c/s-regulatory regions, with multiple enhancers scattered across stretches of DNA spanning tens or hundreds of kilobases. Early work revealed remarkable modularity of enhancers, where distinct regions of DNA, bound by
Daniela Ortiz, Anna Liebowitz, Gonzalo Sabarís, Ella Preger-Ben Noon, Jonathan Sager, David L. Stern, Nicolas Frankel   +6 more
core   +1 more source

Skeletal muscle enhancer interactions identify genes controlling whole-body metabolism

, 2020
Obesity and type 2 diabetes (T2D) are metabolic disorders influenced by lifestyle and genetic factors that are characterized by insulin resistance in skeletal muscle, a prominent site of glucose disposal.
Ribel-Madsen, Rasmus, Grarup, Niels, Auwerx, Johan, Pedersen, Oluf Borbye, Hansen, Ann Normann, Workman, Christopher T., Pedersen, Oluf, Hansen, Torben, Ingerslev, Lars Roed, Wohlwend, Martin, Bork-Jensen, Jette, Astrup, Arne, Ingerslev, Lars R., Williams, Kristine, Workman, Christopher T, Small, Lewin, Barrès, Romain   +16 more
core   +1 more source

Septin 9 PB domains coordinate centrosome positioning and microtubule acetylation to control epithelial polarity

FEBS Letters, EarlyView.
Septin 9 polybasic domains couple phosphoinositide‐rich membrane binding to centrosome positioning, Golgi organization, and microtubule acetylation to control epithelial polarity. Their loss disrupts this axis, causing centrosome mispositioning, Golgi fragmentation, reduced microtubule acetylation, and polarity inversion via upregulation of the ...
Ting ting Cai, Mohyeddine Omrane, Nassima Benzoubir, Didier Samuel, Ama Gassama‐Diagne   +4 more
wiley   +1 more source

Identification, Interpretation, and Evolution of Gene Regulatory Enhancer Landscapes

, 2020
The improper regulation of gene expression is a main cause of complex disease. Non-coding single nucleotide variants influence disease risk by altering gene regulatory elements, such as promoters and enhancers.
Benton, Mary Lauren
core