Results 61 to 70 of about 1,069,656 (317)

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis [PDF]

, 2010
The finding of TDP-43 as a major component of ubiquitinated protein inclusions in amyotrophic lateral sclerosis (ALS) has led to the identification of 30 mutations in the transactive response-DNA binding protein (TARDBP) gene, encoding TDP-43.
A Yokoseki, BA Hosler, C Lomen-Hoerth, C Vance, Christopher J. McDermott, D Neary, DR Rosen, E Buratti, E Buratti, E Kabashi, Emily F. Goodall, F Gros-Louis, GM Ringholz, H Daoud, Hannah C. Hollinger, I Gijselinck, IF Wang, IR Mackenzie, J Kirby, J Sreedharan, J. Robin Highley, Janine Kirby, JJ Kew, Judith A. Hartley, Karen E. Morrison, L Benajiba, L Corrado, M Morita, M Neumann, MJ Strong, MJ Winton, NJ Rutherford, P Kuhnlein, PA Mercado, Pamela J. Shaw, Paul G. Ince, PM Andersen, R Bo Del, R Lemmens, Rachel Hibberd, RJ Guerreiro, Rudo Masanzu, SH Ou, Stephen B. Wharton, VM Deerlin Van, William Smith, YM Ayala   +46 more
core   +1 more source

Sirolimus for Extracranial Arteriovenous Malformations: A Scoping Review of the Evidence in Syndromic and Non‐Syndromic Cases

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson, Ingrid Winship, Gary Hammerschlag, Laura Scardamaglia   +3 more
wiley   +1 more source

"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders"

BMC Cardiovascular Disorders
Background Genetic diagnostics support the diagnosis of hereditary arrhythmogenic diseases, but variants of uncertain significance (VUS) complicate matters, emphasising the need for regular reassessment.
Sarah Martin, Tina Jenewein, Christof Geisen, Stefanie Scheiper-Welling, Silke Kauferstein   +4 more
doaj   +1 more source

Clinical Significance of FOXP3 Expression in BRCA1/2-Mutant Breast Cancer

Zhongliu Fangzhi Yanjiu
ObjectiveTo investigate the potential significance of FOXP3 expression in BRCA1/2-mutant breast cancer. MethodsA total of 48 BRCA mutation carriers (16 with BRCA1 and 32 with BRCA2) and 78 age-matched non-carriers were included in this study ...
Linxi CHEN, Li HU, Jiuan CHEN, Lu YAO, Juan ZHANG, Ye XU, Yuntao XIE   +6 more
doaj   +1 more source

The Anatomy of an Entrepreneur: Family Background and Motivation [PDF]

, 2009
Examines the socioeconomic, educational, familial, and professional backgrounds of entrepreneurs in high-growth industries, their motivations for becoming entrepreneurs, and their beliefs.
Alex Salkever, Krisztina "Z" Holly, Raj Aggarwal, Vivek Wadhwa   +3 more
core  

Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. [PDF]

, 2013
We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in ATM with somatic loss of the variant allele. Another proband had a nonsense variant in PALB2 with somatic loss of the
Al-Sukhni, Wigdan, Borgida, Ayelet E, Gallinger, Steven, Grant, Robert C, Holter, Spring, Kanji, Zaheer S, McPherson, John D, McPherson, Treasa, Peltekova, Vanya, Serra, Stefano, Stein, Lincoln D, Trinh, Quang M, Whelan, Emily   +12 more
core   +3 more sources

Keeping the Family in Family Medicine [PDF]

American Journal of Hospice and Palliative Medicine®, 2020
In this personal reflection, as a Family Medicine resident at an Academic Center in Northeast Florida, as well as being a chronic illness patient myself, I explore the notion of dying alone and away from family. Although COVID-19 has changed the practice of medicine in many ways, prior to that, and before the instillation of hospital no-visitor ...
openaire   +2 more sources

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

Correlating familial Alzheimer’s disease gene mutations with clinical phenotype [PDF]

, 2010
Alzheimer’s disease (AD) causes devastating cognitive impairment and an intense research effort is currently devoted to developing improved treatments for it.
Rossor, M.N., Ryan, N.S.
core   +1 more source

Preferences of Pediatric Patients and Their Caregivers for Chemotherapy‐Induced Nausea and Vomiting Control Endpoints: A Mixed Methods Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Although not always achieved, complete chemotherapy‐induced nausea and vomiting (CINV) control is the conventional goal of CINV prophylaxis. In this two‐center, mixed‐methods study, we sought to understand the preferences of adolescent patients and family caregivers for CINV control endpoints.
Haley Newman, Tadi Hondonga, Alison Berry, Caitlin Elgarten, Jason Freedman, Katelyn Oranges, Sara McDonough, Caroline Diorio, L. Lee Dupuis   +8 more
wiley   +1 more source