Results 51 to 60 of about 34,616 (236)

Region-specific Wnt signaling responses promote gastric polyp formation in patients with familial adenomatous polyposis

JCI Insight, 2023
Germline adenomatous polyposis coli (APC) mutation in patients with familial adenomatous polyposis (FAP) promotes gastrointestinal polyposis, including the formation of frequent gastric fundic gland polyps (FGPs).
Kevin P. McGowan, Elizabeth Delgado, Theresa M. Keeley, Elise S. Hibdon, D. Kim Turgeon, Elena M. Stoffel, Linda C. Samuelson   +6 more
doaj   +1 more source

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

International Journal of Eating Disorders, EarlyView.
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

A Patient With Desmoid Tumors and Familial FAP Having Frame Shift Mutation of the APC Gene

Acta Medica Iranica, 2017
Desmoids tumors, characterized by monoclonal proliferation of myofibroblasts, could occur in 5-10% of patients with familial adenomatous polyposis (FAP) as an extra-colonic manifestation of the disease.
Sanambar Sadighi, Mahsa Ghaffari-Moghaddam, Mojtaba Saffari, Mohammad Ali Mohagheghi, Reza Shirkoohi   +4 more
doaj  

Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam

BMC Medical Genetics, 2018
Background Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary syndrome characterised by the development of hundreds to thousands of adenomatous colonic polyps during the second decade of life. FAP is caused by germ line mutations in
Hoa Giang, Vu T Nguyen, Sinh D Nguyen, Huu-Phuc Nguyen, Binh T Vo, Truc M Nguyen, Nguyen H Nguyen, Kiet D Truong, Thanh-Thuy T Do, Minh-Duy Phan, Hoai-Nghia Nguyen   +10 more
doaj   +1 more source

Genotype-Phenotype Correlations in Attenuated Adenomatous Polyposis Coli [PDF]

The American Journal of Human Genetics, 1998
Germ-line mutations of the tumor suppressor APC are implicated in attenuated adenomatous polyposis coli (AAPC), a variant of familial adenomatous polyposis (FAP). AAPC is recognized by the occurrence of 40 years). The aim of this study was to assess genotype-phenotype correlations in AAPC families.
Soravia, Claudio, Berk, T, Madlensky, L, Mitri, A, Cheng, H, Gallinger, S, Cohen, Z, Bapat, B   +7 more
openaire   +3 more sources

Gene Expression Profiling in Familial Adenomatous Polyposis Adenomas and Desmoid Disease [PDF]

, 2007
Gene expression profiling is a powerful method by which alterations in gene expression can be interrogated in a single experiment. The disease familial adenomatous polyposis (FAP) is associated with germline mutations in the APC gene, which result in ...
Nikola A Bowden, Amanda Croft, Rodney J Scott   +2 more
core   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

Deep vein thrombosis in a patient of adenomatous polyposis coli treated successfully with aspirin: A case report

Caspian Journal of Internal Medicine, 2016
Background: Deep vein thrombosis is an important cause of morbidity and mortality. However, its association with adenomatous polyposis coli is extremely rare.
Neha Agrawal, Tuhin Santra, Arnab Kar, Pradipta Guha, Mita Bar, Apu Adhikary, Sumana Datta   +6 more
doaj  

Spontaneous Immortalization of Clinically Normal Colon-Derived Fibroblasts from a Familial Adenomatous Polyposis Patient

Neoplasia: An International Journal for Oncology Research, 2004
Normal human diploid cells do not spontaneously immortalize in culture, but instead enter replicative senescence after a finite number of population doublings.
Nicholas R. Forsyth, Carmela P. Morales, Shirish Damle, Bruce Boman, Woodring E. Wright, Levy Kopelovich, Jerry W. Shay   +6 more
doaj   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source