Results 61 to 70 of about 3,055,534 (337)

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

open access: yesFEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi   +5 more
wiley   +1 more source

A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment of BRCA-mutated breast cancer

open access: yesCancer Management and Research, 2019
Purpose To conduct a systematic review of international guidelines on screening and management of patients with BRCA-mutated breast cancer (BC). Methods Major electronic databases (MEDLINE and Embase; N=8) and gray literature sources were searched ...
C. Forbes   +3 more
semanticscholar   +1 more source

Plasmodium falciparum gametogenesis essential protein 1 (GEP1) is a transmission‐blocking target

open access: yesFEBS Letters, EarlyView.
This study shows Plasmodium falciparum GEP1 is vital for activating sexual stages of malarial parasites even independently of a mosquito factor. Knockout parasites completely fail gamete formation even when a phosphodiesterase inhibitor is added. Two single‐nucleotide polymorphisms (V241L and S263P) are found in 12%–20% of field samples.
Frederik Huppertz   +5 more
wiley   +1 more source

A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review

open access: yesFrontiers in Pediatrics
Recently, mutations have been identified in six genes (PIGA, PIGY, PIGO, PGAP2, PIGW and PGAP3) encoding proteins in the Glycosyl phosphatidylinositol(GPI)-anchor-synthesis pathway in individuals with hyperphosphatasia with impaired intellectual ...
Yijun Pan   +3 more
doaj   +1 more source

4‐nitrobenzoate inhibits 4‐hydroxybenzoate polyprenyltransferase in malaria parasites and enhances atovaquone efficacy

open access: yesFEBS Letters, EarlyView.
Atovaquone is an antimalarial requiring potentiation for sufficient efficacy. We pursued strategies to enhance its activity, showing that 4‐nitrobenzoate inhibits 4‐hydroxybenzoate polyprenyltransferase, decreasing ubiquinone biosynthesis. Since atovaquone competes with ubiquinol in mitochondria, 4‐nitrobenzoate facilitates its action, potentiating ...
Ignasi Bofill Verdaguer   +7 more
wiley   +1 more source

Cancer genetics education in a low- to middle-income country: evaluation of an interactive workshop for clinicians in Kenya.

open access: yesPLoS ONE, 2015
BackgroundClinical genetic testing is becoming an integral part of medical care for inherited disorders. While genetic testing and counseling are readily available in high-income countries, in low- and middle-income countries like Kenya genetic testing ...
Jessica A Hill   +4 more
doaj   +1 more source

From genetic counseling to “genomic counseling” [PDF]

open access: yesMolecular Genetics & Genomic Medicine, 2013
Genetic counseling is “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” Traditionally, this process includes collecting and interpreting the family and medical history, risk assessment, a comprehensive educational process for potential genetic testing ...
openaire   +3 more sources

Organoids in pediatric cancer research

open access: yesFEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

The introduction of genetic counseling in Ethiopia: Results of a training workshop and lessons learned.

open access: yesPLoS ONE, 2021
BackgroundOver the past two decades non-communicable diseases (NCDs) have steadily increased as a cause of worldwide disability and mortality with a concomitant decrease in disease burden from communicable, maternal, neonatal and nutritional conditions ...
Shane C Quinonez   +9 more
doaj   +1 more source

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

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