Results 161 to 170 of about 912,126 (302)

The Testicular Cancer Consortium (TECAC): Filling Knowledge Gaps in the Genetic Etiology of Testicular Germ Cell Tumors

Andrology, EarlyView.
ABSTRACT Background The Testicular Cancer Consortium (TECAC) was established in 2012 and is comprised of researchers from over 25 centers in Europe and North America. TECAC's overarching goal is to investigate the genetic susceptibility of testicular germ cell tumors (TGCT) to better understand their biology, impact prevention strategies, and inform ...
Peter A. Kanetsky, Kristian Almstrup, Svetlana Cherlin, Victoria K. Cortessis, Alberto Ferlin, Jourik A. Gietema, Anna González‐Neira, Tom Grotmol, Robert J. Hamilton, Trine B. Haugen, Lambertus A. Kiemeney, Jung Kim, Csilla Krausz, Davor Lessel, Ragnhild A. Lothe, Kevin T. Nead, Jérémie Nsengimana, Jenny N. Poynter, Ewa Rajpert‐DeMeyts, Lorenzo Richiardi, Stephen M. Schwartz, Rolf I. Skotheim, Douglas R. Stewart, Clare Turnbull, Fredrik Wiklund, Tongzhang Zheng, Katherine L. Nathanson, Katherine A. McGlynn, for the Testicular Cancer Consortium   +28 more
wiley   +1 more source

Differential Sperm DNA Methylation Profiles in Healthy Men With High Versus Low Adherence to the Mediterranean Diet in the Led‐Fertyl Study

Andrology, EarlyView.
ABSTRACT Background Diet is known to play an essential role not only in sperm quality but also in offspring health, likely mediated through the sperm epigenome. Moreover, one of the main components of the Mediterranean diet (MedDiet) (i.e., nuts) have shown to impact sperm DNA methylation patterns.
Rashmi Agarwal, Nancy Babio, Estefanía Davila‐Cordova, María Fernández de la Puente, Cristina Valle‐Hita, Carles Arribas, Manel Esteller, Aleix Noguera‐Castells, Raquel Pluvinet, Jordi Salas‐Salvadó, Albert Salas‐Huetos   +10 more
wiley   +1 more source

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki, Annamari T. Immonen, Joel T. Rämö, Aino M. Jaakkola, Kari Krootila, Maria Kaukonen, FinnGen, Aarno Palotie, Hannes Lohi, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source

Genetic characterisation of the Nero d’Aspromonte pig population in Southern Italy

Italian Journal of Animal Science
The aim of this study was to investigate the genomic diversity of the Nero d’Aspromonte (NA) pig population. NA is a subpopulation derived from the Apulo Calabrese (AC) breed that has been reared in total isolation within the Polsi area of Aspromonte ...
Ervin Shishmani, Valentino Palombo, Giuseppina Schiavo, Siria Tavaniello, Mengjun Wu, Marisa Palazzo, Giuseppe Maiorano, Luca Fontanesi, Mariasilvia D’Andrea   +8 more
doaj   +1 more source

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

Genome‐wide association and interaction analysis for proliferative retinopathy in adults with type 2 diabetes born during famine: The DOLCE study in Ukraine

Acta Ophthalmologica, EarlyView.
Abstract Purpose Proliferative diabetic retinopathy (PDR) is one of the leading causes of blindness in working‐age adults. We have previously shown that the risk of PDR is significantly elevated in individuals with intrauterine exposure to famine. However, the genetic mechanisms mediating this association remain unknown.
Olena Fedotkina, Most Champa Begum, Xuan Tung Trinh, Turkuler Özgumus, Mikael Åkerlund, Peter Nilsson, Leticia Maria Spindola, Valeriya Lyssenko   +7 more
wiley   +1 more source

A genetic and historical perspective on the origins of keratitis fugax hereditaria

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate the genetic and genealogical background of keratitis fugax hereditaria (KFH), a periodic corneal disease caused by the heterozygous pathogenic variant c.61G>C in the NLRP3 gene. KFH is characterized by recurrent unilateral autoinflammatory attacks alternating between the eyes and permanent corneal opacities.
Annamari T. Immonen, Sara P. Luostarinen, Päivi Lahermo, Sabita Kawan, Kati Donner, Joseph D. Terwilliger, Michael P. Backlund, Joni A. Turunen   +7 more
wiley   +1 more source

Mosaic chromosomal alterations and relation to haematological cancer in two large Danish cohorts

British Journal of Haematology, EarlyView.
Summary Mosaic chromosomal alterations (mCAs) are large somatic gains, losses and copy‐neutral loss of heterozygosity identified in the peripheral blood, which represent a relatively unexplored spectrum of clonal haematopoiesis. We aimed to describe mCAs in two large Danish cohorts with extensive long‐term registry‐based follow‐up and examine ...
Cecilie Velsoe Maeng, Pei Meng, Mathias Heldbo, Olafur Davidsson, Morten Munk Johansen, Sigrún Thorsteinsdóttir, Jojo Biel‐Nielsen Dietz, Ragnar Pétur Kristjansson, Ole Birger Vesterager Pedersen, Erik Sørensen, Christian Erikstrup, Christina Mikkelsen, Nanna Brøns, Henrik Ullum, Bitten Aagaard, Mie Topholm Bruun, Estrid Høgdall, DBDS Research Consortium, CHB Research Consortium, Bo Porse, Simon Husby, Sisse R. Ostrowski, Henrik Hjalgrim, Kirsten Grønbæk   +23 more
wiley   +1 more source

Immunohistochemistry as a tool for identifying PDGFRA amplification in central nervous system tumors

Brain Pathology, EarlyView.
PDGFRA gene amplification is now recognized as a diagnostically and prognostically relevant molecular alteration in central nervous system tumors. Herein, we demonstrated that PDGFRA immunohistochemistry is a highly specific and sensitive biomarker for identifying PDGFRA amplification and should be part of the neuropathologist's routine panel of ...
Arnault Tauziède‐Espariat, Guilhem Amargos, Farah Sassi, Lauren Hasty, Alice Métais, Pascale Varlet   +5 more
wiley   +1 more source

AI‐Based Analysis of Tumor‐Infiltrating Lymphocytes and Homologous Recombination in Ovarian Cancer: JGOG3025‐A1 Study

Cancer Science, EarlyView.
AI‐based spatial analysis of tumor‐infiltrating lymphocytes in ovarian cancer revealed the highest infiltration in high‐grade serous carcinoma. Integrating pathology‐based immune phenotypes with HRD status provided additional prognostic insight and highlighted distinct relationships between TILs and genomic structure.
Kohei Hamada, Junzo Hamanishi, Noriomi Matsumura, Akihiko Ueda, Shiro Takamatsu, Kosuke Yoshihara, Takayuki Nagasawa, Toshiyuki Seki, Akira Kikuchi, Etsuko Fujimoto, Mana Taki, Koji Yamanoi, Ryusuke Murakami, Hisaaki Kudo, Katsutoshi Oda, Muneaki Shimada, Aikou Okamoto, Masaki Mandai   +17 more
wiley   +1 more source