Results 51 to 60 of about 207,733 (353)

TRAF2 binds to TIFA via a novel motif and contributes to its autophagic degradation

FEBS Letters, EarlyView.
TRAF family members couple receptor signalling complexes to downstream outputs, but how they interact with these complexes is not always clear. Here, we show that during ADP‐heptose signalling, TRAF2 binding to TIFA requires two short sequence motifs in the C‐terminal tail of TIFA, which are distinct from the TRAF6 binding motif.
Tom Snelling, Kodi Hunter, Celest W. S. Tay, Nicola T. Wood, Philip Cohen   +4 more
wiley   +1 more source

Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions

Hereditary Cancer in Clinical Practice
Background Lynch syndrome represents the most common hereditary cause of both colorectal and endometrial cancer. It is caused by defects in mismatch repair genes, as well as EPCAM. Universal screening of colon tumors for Lynch syndrome via microsatellite
Alexander T. Petterson, Jennifer Garbarini, Maria J. Baker   +2 more
doaj   +1 more source

Painting a portrait: Analysis of national health survey data for cancer genetic counseling

Cancer Medicine, 2019
Background Despite a growing body of literature describing the geographic and sociodemographic distribution of cancer genetic testing, work focused on these domains in cancer genetic counseling is limited.
Monica H. Stamp, Ora K. Gordon, Christopher P. Childers, Kimberly K. Childers   +3 more
doaj   +1 more source

MANAGING VARIANT DISCREPANCY IN HEREDITARY CANCER: CLINICAL PRACTICE, BARRIERS, AND DESIRED RESOURCES [PDF]

, 2017
Variants are changes in the DNA whose phenotypic effects may or may not be definitively understood. Because variant interpretation is a complex process, sources sometimes disagree on the classification of a variant, which is called a variant discrepancy.
Zirkelbach, Ellen
core   +1 more source

The epithelial barrier theory proposes a comprehensive explanation for the origins of allergic and other chronic noncommunicable diseases

FEBS Letters, EarlyView.
Exposure to common noxious agents (1), including allergens, pollutants, and micro‐nanoplastics, can cause epithelial barrier damage (2) in our body's protective linings. This may trigger an immune response to our microbiome (3). The epithelial barrier theory explains how this process can lead to chronic noncommunicable diseases (4) affecting organs ...
Can Zeyneloglu, Huseyn Babayev, Ismail Ogulur, Sena Ardicli, Yagiz Pat, Duygu Yazici, Bingjie Zhao, Lihong Chang, Xiaoqing Liu, Paolo D'Avino, Manru Li, Ceren Biçer, Fatma Hacer Kurtoğlu Babayev, Raja Dhir, Kari C. Nadeau, Marie‐Charlotte Brüggen, Mubeccel Akdis, Cezmi A. Akdis   +17 more
wiley   +1 more source

Attitudes Toward Updated Genetic Testing Among Patients with Unexplained Mismatch Repair Deficiency [PDF]

, 2018
Individuals who have colorectal cancer (CRC) or endometrial cancer (EC) displaying loss of immunohistochemical (IHC) staining of one or more mismatch repair (MMR) proteins without a causative germline mutation are said to have unexplained mismatch repair
Omark, Jessica
core   +1 more source

From omics to AI—mapping the pathogenic pathways in type 2 diabetes

FEBS Letters, EarlyView.
Integrating multi‐omics data with AI‐based modelling (unsupervised and supervised machine learning) identify optimal patient clusters, informing AI‐driven accurate risk stratification. Digital twins simulate individual trajectories in real time, guiding precision medicine by matching patients to targeted therapies.
Siobhán O'Sullivan, Lu Qi, Pierre Zalloua   +2 more
wiley   +1 more source

Direct-to-consumer genetic testing: where and how does genetic counseling fit? [PDF]

, 2017
Direct-to-consumer genetic testing for disease ranges from well-validated diagnostic and predictive tests to ‘research’ results conferring increased risks.
Anna Middleton, ASHG (American Society of Human Genetics Ad Hoc Committee on Genetic Counselling)., Caroline M Benjamin, Heidi Carmen Howard, Human Genetics Commission., Kalokairinou L, Marteau TM, McCarthy Veach P, Álvaro Mendes   +8 more
core   +1 more source

Cell‐free DNA aneuploidy score as a dynamic early response marker in prostate cancer

Molecular Oncology, EarlyView.
mFast‐SeqS‐based genome‐wide aneuploidy scores are concordant with aneuploidy scores obtained by whole genome sequencing from tumor tissue and can predict response to ARSI treatment at baseline and, at an early time point, to ARSI and taxanes. This assay can be easily performed at low cost and requires little input of cfDNA. Cell‐free circulating tumor
Khrystany T. Isebia, Anouk C. de Jong, Lisanne F. van Dessel, Vanja de Weerd, Corine Beaufort, Jean Helmijr, José Alberto Nakauma‐González, Job van Riet, Paul Hamberg, Daniel Vis, Michiel S. van der Heijden, Nick Beije, Martijn P. Lolkema, Teoman Deger, Saskia M. Wilting, Ronald de Wit, Maurice P. H. M. Jansen, John W. M. Martens   +17 more
wiley   +1 more source

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

Frontiers 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, Bin Ren, Lijuan Chen, Qiang Li   +3 more
doaj   +1 more source