Results 51 to 60 of about 3,055,534 (337)

Knowledge assessment and psychological impact of genetic counseling in people at risk for familial FTD

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 2021
Introduction The decision to undergo genetic testing for familial frontotemporal dementia (fFTD) is challenging and complex. When counseling individuals, clinicians need to know what individuals understand about the type of fFTD for which they may be at ...
Bonnie Wong, Diane Lucente, Samantha Krivensky, Erin Krahn, Jason Karlawish, Bradford C. Dickerson   +5 more
doaj   +1 more source

A working model for cytoplasmic assembly of H/ACA snoRNPs

FEBS Letters, EarlyView.
Dyskerin is the component of nuclear H/ACA ribonucleoproteins (RNPs) endowed with pseudouridine synthase catalytic activity. Two isoforms of human dyskerin have been characterized: the abundant Iso1, mainly nuclear, and the shorter Iso3, mainly cytoplasmic but occasionally imported into nuclei.
Alberto Angrisani, Maria Furia
wiley   +1 more source

Racial disparities in cancer genetic counseling encounters: study protocol for investigating patient-genetic counselor communication in the naturalistic clinical setting using a convergent mixed methods design

BMC Cancer, 2023
Background Despite decades of effort to reduce racial cancer disparities, Black people continue to die at higher rates from cancer than any other U.S. racial group.
Nao Hagiwara, Nadia Harika, Erin P. Carmany, Yongyun Shin, Susan Eggly, Shawn C. T. Jones, John Quillin   +6 more
doaj   +1 more source

Evidence-Based Genetic Counseling for Psychiatric Disorders: A Road Map.

Cold Spring Harbor Perspectives in Medicine, 2019
Psychiatric disorders, such as schizophrenia, depression, anxiety, and bipolar disorder, are common conditions that arise as a result of complex and heterogeneous combinations of genetic and environmental factors.
J. Austin
semanticscholar   +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

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

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

Examining the impact of genetic testing for type 2 diabetes on health behaviors: study protocol for a randomized controlled trial

Trials, 2012
Background We describe the study design, procedures, and development of the risk counseling protocol used in a randomized controlled trial to evaluate the impact of genetic testing for diabetes mellitus (DM) on psychological, health behavior, and ...
Voils Corrine I, Coffman Cynthia J, Edelman David, Maciejewski Matthew L, Grubber Janet M, Sadeghpour Azita, Cho Alex, McKenzie Jamiyla, Blanpain Francoise, Scheuner Maren, Sandelowski Margarete, Gallagher M, Ginsburg Geoffrey S, Yancy William S   +13 more
doaj   +1 more source

RAD50 missense variants differentially affect the DNA damage response and mitotic progression

FEBS Letters, EarlyView.
RAD50 incorporates into the MRN complex and initiates the DNA damage response. Furthermore, RAD50 promotes mitotic progression. RAD50 missense variants capable of forming an MRN complex supported the DNA damage response and mitotic features to different extents in complementation experiments, indicating these functions are separable and might impact ...
Hanna Redeker, Swantje Kebel, Lea Völkening, Anna Vatselia, Louisa Weinhold, Girmay Asgedom, Axel Schambach, Detlev Schindler, Thilo Dörk, Kristine Bousset   +9 more
wiley   +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