Results 41 to 50 of about 18,113 (219)

The CHAMP-study: the CHemopreventive effect of lithium in familial AdenoMatous Polyposis; study protocol of a phase II trial

BMC Gastroenterology, 2022
Background Familial adenomatous polyposis (FAP) is a rare autosomal dominant disease characterized by germline mutations in the Adenomatous Polyposis Coli (APC) gene, resulting in the development of numerous colorectal adenomas.
Jasmijn D. G. Linssen, Sanne M. van Neerven, Arthur S. Aelvoet, Clara C. Elbers, Louis Vermeulen, Evelien Dekker   +5 more
doaj   +1 more source

INTESTINAL POLYPOSIS AND CARCINOMA

ANNALS OF SURGERY, 1902
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openaire   +2 more sources

Interpreting the effects of DNA polymerase variants at the structural level

Molecular Oncology, EarlyView.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Hyperpigmentation, nail dystrophy and alopecia with generalised intestinal polyposis: Cronkhite–Canada syndrome

, 2008
A 62-year-old Malaysian woman presented with a constellation of skin signs including alopecia, hyperpigmentation and nail dystrophy. On questioning, a history of diarrhoea, taste disturbance and weight loss was found. The onset of these changes coincided
Falhammar, Henrik, Ho, V, Banney, L, Falhammar, H,, Banney, Leith, Ho, Vincent   +5 more
core   +1 more source

A dose‐finding population pharmacokinetic/pharmacodynamic model of ginisortamab, an anti‐gremlin‐1 monoclonal antibody, in patients with solid tumours

British Journal of Clinical Pharmacology, EarlyView.
Aims Ginisortamab, a first‐in‐class human monoclonal antibody for the treatment of advanced solid tumours, binds to gremlin‐1 and restores bone morphogenetic protein signalling. We used pharmacokinetic/pharmacodynamic (PK/PD) modelling to characterize the relationship between ginisortamab dose and serum gremlin‐1 binding, using model‐based simulations ...
Yin Cheong Wong, Luisa Rojas Chavarro, Paul Jones, David Egging, Wanchana Ungphakorn, Marta Valle, Ivan Matthews   +6 more
wiley   +1 more source

The LKB1-salt-inducible kinase pathway functions as a key gluconeogenic suppressor in the liver [PDF]

, 2014
LKB1 is a master kinase that regulates metabolism and growth through adenosine monophosphate-activated protein kinase (AMPK) and 12 other closely related kinases. Liver-specific ablation of LKB1 causes increased glucose production in hepatocytes in vitro
Gray, NS, Kaestner, Klaus H., Gray, Nathanael, Birnbaum, Morris J., Campbell, David G, Kaestner, KH, Wan, Min, Sakamoto, Kei, Gray, Nathanael S., Gray, Nathanael S, Göransson, Olga, Sutherland, C, Gourlay, R, Titchenell, Paul, Sutherland, Calum, Patel, Kashyap, Marion, Allison, Viollet, B, Foretz, Marc, Titchenell, P, Sutherland, Calum; id_orcid, Göransson, Olga,, Birnbaum, Morris J, Campbell, David G., Patel, K, Foretz, M, Deak, M, Gourlay, Robert, Göransson, O, Deak, Maria, Viollet, Benoit, Marion, A, Wan, M, Birnbaum, MJ, Tournier, Emilie, Campbell, DG, Peggie, Mark, Boudaba, Nadia, Kaestner, Klaus H, Sakamoto, K, Tournier, E, Peggie, M, Lund University., Boudaba, N   +43 more
core   +1 more source

Clinical, Radiologic and Cytologic Predictors of Malignancy in Pediatric Thyroid Nodules: Insights From a 26‐Year Cohort Study

Head &Neck, EarlyView.
ABSTRACT Introduction Thyroid nodules are less common but more often malignant in pediatric patients than in adults. Our objectives were to study the features of benign vs. malignant thyroid nodules in a large pediatric patient cohort. Methods Retrospective observational cohort study. Consecutive patients aged 0.01–17.9 years at evaluation between 1997–
Maxime Gest‐Laurent, Adrien Nguyen Quoc, Christine Lefevre, Laura González‐Briceño, Caroline Thalassinos, Isabelle Flechtner, Dulanjalee Kariyawasam, Yamina Dassa, Magali Viaud, Dinane Samara‐Boustani, Graziella Pinto, Hervé Monpeyssen, Sabine Sarnacki, Vincent Couloigner, Michel Polak, Athanasia Stoupa   +15 more
wiley   +1 more source

Wnt/beta-catenin signaling controls development of the blood–brain barrier

, 2008
The blood–brain barrier (BBB) is confined to the endothelium of brain capillaries and is indispensable for fluid homeostasis and neuronal function. In this study, we show that endothelial Wnt/beta-catenin (beta-cat) signaling regulates induction and ...
Fruttiger, Marcus, Hartwig Wolburg, Babbage, J., M. Corada, Taddei, A., Monica Corada, Babbage, Jane, Wolburg, Hartwig, Corada, M., Makoto M. Taketo, Plate, Karl, A. Felici, Wolburg, H., C. J. Czupalla, Karl Heinz Plate, Harald von Melchner, Reis, M., E. Dejana, Gerhardt, Holger, Elisabetta Dejana, Marcus Fruttiger, M. Fruttiger, Dejana, Elisabetta, Angelina Felici, Jane Babbage, Taddei, Andrea, Liebner, S., Taketo, Makoto Mark, Felici, A., Liebner, Stefan, K. H. Plate, Reis, Marco, Bangsow, T., Dejana, E., M. Reis, Marco Reis, Czupalla, C.J., T. Bangsow, Cathrin J. Czupalla, A. Taddei, Felici, Angelina, H. von Melchner, Andrea Taddei, H. Wolburg, Taketo, M.M., von Melchner, H., J. Babbage, H. Gerhardt, Plate, K.H., Corada, Monica, M. M. Taketo, Czupalla, Cathrin Jacqueline, Holger Gerhardt, Stefan Liebner, S. Liebner, Fruttiger, M., Gerhardt, H., Bangsow, Thorsten, Melchner, Harald von (Prof. Dr.), Thorsten Bangsow   +59 more
core   +1 more source

Colorectal Cancer Screening in Hereditary and Familial High‐Risk Populations: Best Practices and Future Directions

International Journal of Cancer, EarlyView.
ABSTRACT Colorectal cancer (CRC) remains a leading cause of cancer‐related morbidity and mortality worldwide yet is largely preventable through effective screening and surveillance. While most CRC cases are sporadic, a substantial proportion occur in individuals at increased risk due to hereditary cancer syndromes or family history who require tailored
Ophir Gilad, Francesc Balaguer, Elizabeth E. Half, Kevin J. Monahan, Elena M. Stoffel, Sonia S. Kupfer   +5 more
wiley   +1 more source