Results 51 to 60 of about 4,953,128 (334)

Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system

eLife, 2017
Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder that
Gillian Morven Belbin, Jacqueline Odgis, Elena P Sorokin, Muh-Ching Yee, Sumita Kohli, Benjamin S Glicksberg, Christopher R Gignoux, Genevieve L Wojcik, Tielman Van Vleck, Janina M Jeff, Michael Linderman, Claudia Schurmann, Douglas Ruderfer, Xiaoqiang Cai, Amanda Merkelson, Anne E Justice, Kristin L Young, Misa Graff, Kari E North, Ulrike Peters, Regina James, Lucia Hindorff, Ruth Kornreich, Lisa Edelmann, Omri Gottesman, Eli EA Stahl, Judy H Cho, Ruth JF Loos, Erwin P Bottinger, Girish N Nadkarni, Noura S Abul-Husn, Eimear E Kenny   +31 more
doaj   +1 more source

Single cis‐elements in brassinosteroid‐induced upregulated genes are insufficient to recruit both redox states of the BIL1/BZR1 DNA‐binding domain

FEBS Letters, EarlyView.
Phytohormone brassinosteroid‐induced gene regulation by the transcription factor BIL1/BZR1 involves redox‐dependent DNA‐binding alternation and interaction with the transcription factor PIF4. The reduced BIL1/BZR1 dimer binds preferred cis‐elements, while oxidation alters its oligomerization state and disrupts DNA‐binding ability.
Shohei Nosaki, Masae Ohtsuka, Takeshi Nakano, Masaru Tanokura, Takuya Miyakawa   +4 more
wiley   +1 more source

Mechanistic basis for inhibition of the extended‐spectrum β‐lactamase GES‐1 by enmetazobactam and tazobactam

FEBS Letters, EarlyView.
Antimicrobial resistance (AMR) is of huge importance, resulting in over 1 million deaths each year. Here, we describe how a new drug, enmetazobactam, designed to help fight resistant bacterial diseases, inhibits a key enzyme (GES‐1) responsible for AMR. Our data show it is a more potent inhibitor than the related tazobactam, with high‐level computation
Michael Beer, Philip Hinchliffe, Marko Hanževački, Christopher R. Bethel, Catherine L. Tooke, Marc W. Van der Kamp, Krisztina M. Papp‐Wallace, Robert A. Bonomo, Stuart Shapiro, Adrian J. Mulholland, James Spencer   +10 more
wiley   +1 more source

Counting Oceanians of Non-European, Non-Asian Descent (ONENA) in the South Pacific to Make Them Count in Global Health

Tropical Medicine and Infectious Disease, 2019
Several diseases and vulnerabilities associated with genetic or microbial factors are more frequent among populations of Oceanian, Non-European, Non-Asian descent (ONENA). ONENA are specific and have long been isolated geographically.
Arnaud Tarantola, Paul F. Horwood, Cyrille Goarant, Bertrand Buffière, Solène Bertrand, Onofre Edwin A. Merilles, Thierry Pedron, Elise Klement-Frutos, Philippe Sansonetti, Lluis Quintana-Murci, Vincent Richard   +10 more
doaj   +1 more source

C9orf72 ALS‐causing mutations lead to mislocalization and aggregation of nucleoporin Nup107 into stress granules

FEBS Letters, EarlyView.
Mutations in the C9orf72 gene represent the most common genetic cause of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Using patient‐derived neurons and C. elegans models, we find that the nucleoporin Nup107 is dysregulated in C9orf72‐associated ALS. Conversely, reducing Nup107 levels mitigates disease‐related changes.
Saygın Bilican, Yara Nabawi, William Hongyu Zhang, Dunja Petrovic, Markus Wehrmann, Sara Muñoz‐García, Seda Koyuncu, David Vilchez   +7 more
wiley   +1 more source

Novel and unscrutinized immune entities of the zebrafish gut

FEBS Letters, EarlyView.
Understudied cells of the zebrafish immune system include bona fide immune cells and epithelial (‐derived) cells with immune functions. Research focusing on zebrafish cells which demonstrate similarities to mammalian immune cell counterparts may help us understand the pathologies in which they are implicated. Currently available and advanced tools make
Audrey Inge Schytz Andersen‐Civil, Marine Mantel, Julia Soh, Serge Mostowy, Sylvia Brugman, Gilles Claude Vanwalleghem   +5 more
wiley   +1 more source

Implementation of molecular karyotyping in clinical genetics

Zdravniški Vestnik, 2013
Rapid development of technologies for the study of the human genome is an expected step after the discovery and sequencing of the entire human genome.
Luca Lovrecic, Borut Peterlin
doaj  

Genetics and Ethics: “Do not Go Alone”!

Hungarian Studies Yearbook, 2019
In his article “Genetics and ethics: ‘Do not go alone’”! András Falus presents genomics as a network science triggering an entirely new trend in contemporary biology.
Falus András
doaj   +1 more source

Medical Genetics in Paraguay

Public Health Genomics, 2004
Paraguay is a developing country with low levels of health coverage, with 81% of the population without health insurance, a proportion that reaches 98.1% among the poor, 93% among the rural population and 91.7% among the mainly Guarani-speaking population. The infant mortality rate is 19.4 per 1,000, although there is gross under-reporting.
openaire   +3 more sources

Clinical genetics: Medical genetics [PDF]

European Journal of Human Genetics, 2006
In these last years, there has been a proliferation of new textbooks and of new editions of classical textbooks on medical genetics targeted at medical students. However, these books are all over 400 pages with increasingly complex explanations of new discoveries and concepts.
openaire   +1 more source