Results 51 to 60 of about 1,871,498 (248)
We report a case of Birt-Hogg-Dube syndrome (BHDS), a rare hereditary syndrome, the main visible sign of which is the development of multiple skin fibrofolliculomas.
Dmitry S. Mikhaylenko +10 more
doaj +1 more source
Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe +3 more
wiley +1 more source
Taxonomic and chemical assessment of exceptionally abundant rock mine biofilm [PDF]
Background An exceptionally thick biofilm covers walls of ancient gold and arsenic Złoty Stok mine (Poland) in the apparent absence of organic sources of energy.
Karolina Tomczyk-Żak +3 more
doaj +2 more sources
Molecular genetic features of the development of restrictive cardiomyopathy in Russian children
Aim. To identify the proportion of restrictive cardiomyopathy (RCM), as well as cardiomyopathy (CMP) with a restrictive type of hemodynamics among all cases of genetic CMP and to determine the relative frequencies and spectrum of nucleotide variants in ...
K. V. Savostyanov +9 more
doaj +1 more source
Nanopore sequencing in human genetic studies: application to structural variant detection [PDF]
Background: Nanopore sequencing is a recent technology which allows direct real-time sequencing of DNA or RNA molecules and production of read lengths as long as the size of the original fragments.
Silva, Catarina, Vieira, Luís
core
Improving sequencing by tunneling with multiplexing and cross-correlations
Sequencing by tunneling is a next-generation approach to read single-base information using electronic tunneling transverse to the single-stranded DNA (ssDNA) backbone while the latter is translocated through a narrow channel.
Balatsky, A. V. +3 more
core +1 more source
The newfound relationship between extrachromosomal DNAs and excised signal circles
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley +1 more source
Serotonin and tryptophan metabolites, autoantibodies and gut microbiome in APECED
Objective: Intestinal autoimmunity with gastrointestinal (GI) dysfunction has been shown in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
Emmi Naskali +7 more
doaj +1 more source
An MLSA-based online scheme for the rapid identification of Stenotrophomonas isolates [PDF]
An online scheme to assign Stenotrophomonas isolates to genomic groups was developed using the multilocus sequence analysis (MLSA), which is based on the DNA sequencing of selected fragments of the housekeeping genes ATP synthase alpha subunit (atpA ...
Barbosa, Heloiza Ramos +8 more
core +3 more sources
This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva +5 more
wiley +1 more source

