Results 101 to 110 of about 33,043 (222)

Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families [PDF]

, 2008
Background: The dominantly inherited condition familial adenomatous polyposis (FAP) is caused by germline mutations in the APC gene. Finding the causative mutations has great implications for the families.
Gunilla Kanter-Smoler, Kaisa Fritzell, Anna Rohlin, Yvonne Engwall, Birgitta Hallberg, Annika Bergman, Johan Meuller, Henrik Grönberg, Per Karlsson, Jan Björk, Margareta Nordling, J Groden, KW Kinzler, L Lipton, N Al-Tassan, S Jones, NS Fearnhead, IS Nathke, ET Renkonen, OM Sieber, J Meuller, S Aretz, G Michils, L Varesco, YL Wallis, GS Charames, S Aretz, DW Neklason, SJ Laken, SM Powell, H Yan, T Venesio, SM Powell, SM Farrington, S Aretz, FJ Hes, P Galiatsatos, HJ Jarvinen, ML Bisgaard, AL Knudsen, J Bjork, G Kanter-Smoler, Z Einbeigi, J Bjork, JP Schouten, MH Nieuwenhuis, PD Stenson, G Joslyn, ML Bisgaard, MH Nieuwenhuis, K Heppner Goss, M Mandl, L Kluwe, S Pedemonte, MO Hiltunen, M Esteller, G Deng, CN Arnold, I Gazzoli, CM Suter, W Friedl, Y Miyoshi, H Lamlum, AL Moisio, H Nagase, R Ripa, S Olschwang, M Miyaki, B Truta, RB van der Luijt, JR Garcia-Lozano, P Paul, M Nilbert, Z Dobbie, S Norheim Andersen   +74 more
core   +2 more sources

Reduced Oligodendrocyte Density and Axonal Caliber Associated With Mitochondrial Alterations in the White Matter of Chronically‐Starved Mice

International Journal of Eating Disorders, Volume 59, Issue 5, Page 869-884, May 2026.
ABSTRACT Objective Anorexia nervosa (AN) is a severe eating disorder associated with extreme weight loss, hyperactivity, and amenorrhea. Neuroimaging studies revealed brain atrophy and disruption of white matter integrity in the corpus callosum (CC) of patients with AN. However, the underlying pathophysiological mechanisms remain unclear.
Stephan Lang, Annelie Zimmermann, Kaja Dickert, Hanna Rupprecht, Julia Priebe, Fabienne Haberland, Hanna‐Sophia Henschke, Katharina Schuster, Marcus Frank, Linda Frintrop   +9 more
wiley   +1 more source

CHARACTERISTICS OF INDIVIDUALS UNDERGOING PANEL GENETIC TESTING FOR PRIMARY BRAIN TUMORS [PDF]

, 2018
Background. Currently, there are no genetic testing guidelines for patients with a primary brain tumor (PBT). This population is largely understudied in terms of the family history, tumor grade, pathology, and their relation to genetic contribution.
Azam, Sarah
core   +1 more source

Juvenile polyposis in a SMAD4‐mutated child: A call for early surveillance

JPGN Reports, Volume 7, Issue 2, Page 262-265, May 2026.
Abstract We report the case of a 10‐year‐old boy with hereditary hemorrhagic telangiectasia (HHT) and a family history of SMAD4‐related juvenile polyposis syndrome (JPS), presenting with hypoferritinaemia unresponsive to oral supplementation. Endoscopic evaluation revealed multiple gastrointestinal polyps, including duodenal, gastric, and colonic ...
Claudia Lorusso, Giuseppe Lassandro, Stefania Castellaneta, Valentina Palladino, Giovanni la Grasta, Vanessa Nadia Dargenio, Vittorio Labriola, Alberto Gaeta, Paola Giordano, Fernanda Cristofori, Ruggiero Francavilla   +10 more
wiley   +1 more source

Familial Adenomatous Polyposis (FAP) and Other Polyposis Syndromes

Hereditary Cancer in Clinical Practice, 2003
There have been significant advances in our knowledge about the molecular changes that precede and accompany the development of inherited predispositions to colorectal cancer.
Scott Rodney J
doaj   +1 more source

Targeted Therapy and Immunotherapies in Hepatocellular Carcinoma: Mechanisms and Clinical Studies

MedComm, Volume 7, Issue 5, May 2026.
The mechanism of multiple signaling pathways and their related targeted inhibitors in HCC. (A) The mechanism of Ras/Raf/MEK/ERK signaling pathway and its related targeted inhibitors; (B) the mechanism of PI3K/AKT/mTOR signaling pathway and its crosstalk with other pathways and its related targeted inhibitors; (C) the mechanism of JAK/STAT signaling ...
Penghui He, Sinan Xie, Kunlin Xie, Fengwei Gao, Yunshi Cai, Yan Huang, Chang Liu, Hong Wu, Yinghao Lyu, Tian Lan   +9 more
wiley   +1 more source

Innate Lymphoid Cells in Tissue Homeostasis and Diseases

MedComm, Volume 7, Issue 5, May 2026.
Innate lymphoid cells (ILCs) are a heterogeneous group of immune cells with phenotypic and functional plasticity. ILCs dynamically regulate various immune cell types and play a crucial role in the pathophysiological processes of specific organs during sepsis. Targeting ILCs is a promising strategy for treating sepsis.
Zhenzhen Zhan, Heyang Sun, Chenning Li, Qianya Hong, Shuainan Zhu, Ying Yu, Hao Zhang, Kefang Guo   +7 more
wiley   +1 more source

Familial Adenomatous Polyposis—Risk of Cancer, Cancer Prevention, and Long‐Term Consequences: Learnings from Five Decades with the Danish Polyposis Register

APMIS, Volume 134, Issue 5, May 2026.
ABSTRACT Familial adenomatous polyposis (FAP) is a hereditary condition marked by the growth of hundreds to thousands of adenomatous polyps in the colon and rectum, significantly elevating the risk of colorectal cancer (CRC) if left untreated. Caused by pathogenic variants in the APC gene, FAP is typically identified in adolescence, often leading to ...
John Gásdal Karstensen
wiley   +1 more source

Anti‐inflammatory effects of physical stimuli: The central role of networks in shaping the future of pharmacological research

British Journal of Pharmacology, Volume 183, Issue 10, Page 2177-2196, May 2026.
Addressing complexity in the study of life sciences through Systems Biology and Systems Medicine has been transformative, making Systems Pharmacology the next logical step. In this review, we focus on physical stimuli, whose potential in pharmacology has been neglected, despite demonstrated therapeutic properties.
Veronica Paparozzi, Reyhaneh Hooshmandabbasi, Alessandro Ravoni, Ying Ma, Luigi Manni, Timothy J. Koh, Caroline Maake, Tiziana Guarnieri, Darong Lai, Vitalii Zablotskii, Christine Nardini   +10 more
wiley   +1 more source

Evaluation and Management of Thyroid Nodules: A Joint Consensus Statement From the British Thyroid Association (BTA), British Association of Endocrine and Thyroid Surgeons (BAETS) and Collaborating Bodies

Clinical Endocrinology, Volume 104, Issue 6, Page 682-692, June 2026.
Ram Moorthy, Saba P. Balasubramanian, Kate Farnell, Mairead Kelly, Gitta Madani, Mufaddal Moonim, Carla Moran, Julia Priestley, Michael Stechman, Emma Watts, Kristien Boelaert   +10 more
wiley   +1 more source