Results 81 to 90 of about 1,609,120 (298)

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. [PDF]

, 2018
Lipoprotein(a), Lp(a), is a modified low-density lipoprotein particle that contains apolipoprotein(a), encoded by LPA, and is a highly heritable, causal risk factor for cardiovascular diseases that varies in concentrations across ancestries. Here, we use
Alver, Maris, Bloom, Jonathan, Budoff, Matthew, Chaffin, Mark, Correa, Adolfo, Cupples, L Adrienne, Daly, Mark J, Engreitz, Jesse, Ernst, Jason, Esko, Tonu, Fu, Mao, Ganna, Andrea, Handsaker, Robert E, Johnson, W Craig, Kathiresan, Sekar, Kellis, Manolis, Manichaikul, Ani, McCarroll, Steven, Metspalu, Andres, Mitchell, Braxton D, Natarajan, Pradeep, Neale, Benjamin M, NHLBI TOPMed Lipids Working Group, Peloso, Gina M, Post, Wendy, Poterba, Timothy, Rich, Stephen S, Ripatti, Samuli, Rotter, Jerome I, Ruotsalainen, Sanni, Ryan, Kathleen A, Salomaa, Veikko, Seed, Cotton, Surakka, Ida, Tsai, Michael, Vasan, Ramachandran S, Wilson, James G, Yang, Chaojie, Zekavat, Seyedeh M   +38 more
core   +1 more source

Recurrent cancer‐associated ERBB4 mutations are transforming and confer resistance to targeted therapies

Molecular Oncology, EarlyView.
We show that the majority of the 18 analyzed recurrent cancer‐associated ERBB4 mutations are transforming. The most potent mutations are activating, co‐operate with other ERBB receptors, and are sensitive to pan‐ERBB inhibitors. Activating ERBB4 mutations also promote therapy resistance in EGFR‐mutant lung cancer.
Veera K. Ojala, Sini Ahonen, Sara Peltola, Aura Tuohisto‐Kokko, Olaya Esparta, Peppi Suominen, Anne Jokilammi, Iman Farahani, Deepankar Chakroborty, Nikol Dibus, Steffen Boettcher, Tomi T. Airenne, Mark S. Johnson, Lisa D. Eli, Klaus Elenius, Kari J. Kurppa   +15 more
wiley   +1 more source

A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment [PDF]

, 2016
Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency.
Abdolrahimzadeh, B, Anselmi, G, Calafiore, S, Lambiase, A, Mannino, C, Mannino, G   +5 more
core   +2 more sources

A High‐Sensitivity Circulating Nucleic Acid Sequencing Assay for Assessing Treatment Response to Alectinib in a Pediatric Patient With ALK‐Rearranged Non–Small Cell Lung Cancer

Pediatric Blood &Cancer, EarlyView.
Alberto D. Guerra, Nicholas F. Evageliou, Vandana Batra, Kristen L. Dalton, Stephanie Ortel, Usman Ashraf, Tricia R. Bhatti, Lisa J. States, Lea F. Surrey, Theodore W. Laetsch   +9 more
wiley   +1 more source

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon, Rui P. L. Neves, Nikolas H. Stoecklein, Sven‐Thorsten Liffers, Jens Siveke, Jan D. Kuhlmann, Pauline Wimberger, Paul Buderath, Rainer Kimmig, Sabine Kasimir‐Bauer   +9 more
wiley   +1 more source

Successful Intra-peritoneal Antibiotic Therapy for Primary Abdominal Nocardiosis in an Immunocompetent Young Female Masquerading as Carcinoma Ovary [PDF]

, 2012
Nocardiosis is a common opportunistic infection in the immunocompromised and in patients with chronic debilitating diseases,e.g continuous ambulatory peritoneal dialysis (CAPD) patients.
Bafna, UD, Pallavi, VR, Patil, RN, Rathod, PS   +3 more
core  

Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'Drift mapping' in small populations with no demographic expansion [PDF]

, 1998
Linkage disequilibrium has been a powerful tool in identifying rare disease alleles in human populations. To date, most research has been directed to isolated populations which have undergone a bottleneck followed by rapid exponential expansion.
Laan, Maris, Pääbo, Svante, Terwilliger, Joseph D., Zöllner, Sebastian   +3 more
core   +1 more source

Network divergence analysis identifies adaptive gene modules and two orthogonal vulnerability axes in pancreatic cancer

Molecular Oncology, EarlyView.
Tumors contain diverse cellular states whose behavior is shaped by context‐dependent gene coordination. By comparing gene–gene relationships across biological contexts, we identify adaptive transcriptional modules that reorganize into distinct vulnerability axes.
Brian Nelson, Lyanne Delgado‐Coka, Natalia Marchenko, Luisa F. Escobar‐Hoyos, Kenneth R. Shroyer, Alisa Yurovsky, Trey Ideker, Gábor Balázsi, Thomas MacCarthy, Scott Powers   +9 more
wiley   +1 more source

RARE DISEASES AND GENETIC DISCRIMINATION [PDF]

, 2011
Rare diseases are characterised by their low prevalence (less than 1/2,000) and their heterogeneity. They affect both children and adults anywhere in the world.
Mariela Yaneva – Deliverska
core  

Pre‐analytical optimization of cell‐free DNA and extracellular vesicle‐derived DNA for mutation detection in liquid biopsies

Molecular Oncology, EarlyView.
Pre‐analytical handling critically determines liquid biopsy performance. This study defines practical best‐practice conditions for cell‐free DNA (cfDNA) and extracellular vesicle–derived DNA (evDNA), showing how processing time, storage conditions, tube type, and plasma input volume affect DNA integrity and mutation detection.
Jonas Dohmen, Lucrezia De Santis, Bret M. Stephens, Vincent Bernard, Jörg C. Kalff, Lara Braun, Phillipp Leyendecker, Johannes Röttgen, Daniel Weissinger, Anirban Maitra, Paola A. Guerrero, Alexander Semaan   +11 more
wiley   +1 more source