Results 211 to 220 of about 1,395,753 (295)

Social Media Use Among Parents and Caregivers of Children With Rare Genetic Diseases: Scoping Review.

J Med Internet Res
Davis C, Bogaert L, Powell J, Low K.
europepmc   +1 more source

Proteome-wide prediction of the mode of inheritance and molecular mechanisms underlying genetic diseases using structural interactomics. [PDF]

iScience
Saadat A, Fellay J.
europepmc   +1 more source

Genetic Variations of Interleukin-23R (1143A>G) and BPI (A645G), but Not of NOD2, Are Associated with Acute Graft-versus-Host Disease after Allogeneic Transplantation

, 2010
Martin Wermke, Stefanie Maiwald, Renate Schmelz, Christian Thiede, Johannes Schetelig, Gerhard Ehninger, Martin Bornhäuser, Ralf Waßmuth   +7 more
openalex   +1 more source

Transcriptional network analysis of PTEN‐protein‐deficient prostate tumors reveals robust stromal reprogramming and signs of senescent paracrine communication

Molecular Oncology, EarlyView.
Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice, Jose I. Lopez, Aitziber Ugalde‐Olano, Maite Zufiaurre, Ianire Astobiza, Natalia Martin‐Martin, Laura Bozal‐Basterra, Saioa Garcia‐Longarte, Amaia Zabala‐Letona, Sofia Rey, Aida Santos‐Martin, Miguel Unda, Ana Loizaga‐Iriarte, Mariona Graupera, Paolo Nuciforo, Arkaitz Carracedo, Isabel Mendizabal   +16 more
wiley   +1 more source

Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis. [PDF]

Orphanet J Rare Dis
Garrison SR, Siegel IJ, Takala CR, Vaithilingam SL, Yang GW, Zoghbi AW, Hartig MM, Vadapalli S, Anderson ME.   +8 more
europepmc   +1 more source

Examining the Effects of Age on Health Outcomes of Chronic Obstructive Pulmonary Disease: Results From the Genetic Epidemiology of Chronic Obstructive Pulmonary Disease Study and Evaluation of Chronic Obstructive Pulmonary Disease Longitudinally to Identify Predictive Surrogate Endpoints Cohorts

, 2017
Amit Parulekar, Carlos H. Martínez, Chu‐Lin Tsai, Nicholas Locantore, Mustafa Atik, Abebaw Mengistu Yohannes, Christina C. Kao, Hassan Al-Azzawi, Ali Mohsin, Robert A. Wise, Marilyn G. Foreman, Dawn L. DeMeo, Elizabeth A. Regan, Barry J. Make, Aladin M. Boriek, Laura Elizabeth Wiener, Nicola A. Hanania   +16 more
openalex   +2 more sources

Next‐generation proteomics improves lung cancer risk prediction

Molecular Oncology, EarlyView.
This is one of very few studies that used prediagnostic blood samples from participants of two large population‐based cohorts. We identified, evaluated, and validated an innovative protein marker model that outperformed an established risk prediction model and criteria employed by low‐dose computed tomography in lung cancer screening trials.
Megha Bhardwaj, Clara Frick, Ben Schöttker, Bernd Holleczek, Hermann Brenner   +4 more
wiley   +1 more source

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial. [PDF]

BMJ Open
Reimers R, Bailey M, Brown C, Chan K, Defay T, Finkel T, Kahn S, Protopsaltis L, Stoddard L, Talati AJ, Wigby K, Akil ASA, Wright M, Kingsmore SF, BeginNGS Consortium.   +14 more
europepmc   +1 more source

Potential therapeutic targeting of BKCa channels in glioblastoma treatment

Molecular Oncology, EarlyView.
This review summarizes current insights into the role of BKCa and mitoBKCa channels in glioblastoma biology, their potential classification as oncochannels, and the emerging pharmacological strategies targeting these channels, emphasizing the translational challenges in developing BKCa‐directed therapies for glioblastoma treatment.
Kamila Maliszewska‐Olejniczak, Karolina Pytlak, Sandra Jaworowska, Bogusz Kulawiak, Piotr Bednarczyk   +4 more
wiley   +1 more source

Cost-effectiveness of population-based expanded reproductive carrier screening for genetic diseases in Australia: a microsimulation analysis. [PDF]

Eur J Hum Genet
Schofield D, Lee E, Parmar J, Castelo Taboada A, Hobbs M, Laing N, Shrestha R.   +6 more
europepmc   +1 more source