Results 91 to 100 of about 3,117,325 (331)

Genetic counseling globally: Where are we now?

open access: yesAmerican Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
The genetic counseling profession is continuing to develop globally, with countries in various stages of development. In some, the profession has been in existence for decades and is increasingly recognized as an important provider of allied health ...
K. Ormond   +6 more
semanticscholar   +1 more source

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

open access: yesFEBS Letters, EarlyView.
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

Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

open access: yesHuman Genome Variation
A young patient diagnosed with advanced colon cancer and liver metastasis was found to have familial adenomatous polyposis (FAP) through comprehensive genomic analysis.
Hiroki Tanabe   +10 more
doaj   +1 more source

Genetic Testing in a Population-Based Sample of Breast and Ovarian Cancer Survivors from the REACH Randomized Trial: Cost Barriers and Moderators of Counseling Mode [PDF]

open access: bronze, 2017
Laurie E. Steffen   +12 more
openalex   +1 more source

The role of histone modifications in transcription regulation upon DNA damage

open access: yesFEBS Letters, EarlyView.
This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley   +1 more source

Genetic counselling [PDF]

open access: yesBMJ, 1988
J G, Thornton, R J, Lilford
openaire   +2 more sources

Mechanisms of parasite‐mediated disruption of brain vessels

open access: yesFEBS Letters, EarlyView.
Parasites can affect the blood vessels of the brain, often causing serious neurological problems. This review explains how different parasites interact with and disrupt these vessels, what this means for brain health, and why these processes matter. Understanding these mechanisms may help us develop better ways to prevent or treat brain infections in ...
Leonor Loira   +3 more
wiley   +1 more source

Bibliometric analysis of genetic counseling publications in Asia: Insights and implications

open access: yesGenetics in Medicine Open
Purpose: Investigation of genetic counseling-related published papers offers a historical assessment of the cumulative scientific knowledge produced by members of the profession and can be the basis for future practice, training, and research. This paper
Peter James B. Abad   +4 more
doaj   +1 more source

Time after time – circadian clocks through the lens of oscillator theory

open access: yesFEBS Letters, EarlyView.
Oscillator theory bridges physics and circadian biology. Damped oscillators require external drivers, while limit cycles emerge from delayed feedback and nonlinearities. Coupling enables tissue‐level coherence, and entrainment aligns internal clocks with environmental cues.
Marta del Olmo   +2 more
wiley   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

open access: yesFEBS Letters, EarlyView.
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

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