Results 131 to 140 of about 837,511 (259)

Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma

, 2017
Purpose Deleterious germline mutations contribute to pancreatic cancer susceptibility and are well documented in families in which multiple members have had pancreatic cancer.
Anne Macgregor-Das, Jose Alejandro Navarro Almario, Aaron Brant, Christopher L. Wolfgang, Shahriar Fesharakizadeh, Abdulrehman Siddiqui, Ralph H. Hruban, Jin He, Jun Yu, Alison P. Klein, Tae Jun Song, Masaya Suenaga, Koji Tamura, Michael Borges, Thomas Barkley, P. Dane Witmer, Christy Cho, Matthew J. Weiss, Koji Shindo, Michael Goggins, Madeline Ford, Nicholas J. Roberts   +21 more
core   +1 more source

A shining starlet: Nematostella vectensis as a model for developmental, regenerative, and comparative biology

Developmental Dynamics, EarlyView.
Abstract The sea anemone, Nematostella vectensis, has been used as a model organism in developmental biology studies for many years. This estuarine species has the notable capacity to regenerate its full body plan from small pieces throughout life. Nematostella have been described as having a great degree of cellular plasticity.
Patrick A. Lewis, Zachary Horowitz, Michael Shribak, Karen Echeverri   +3 more
wiley   +1 more source

Protein conservation and variability of signaling proteins having somatic and those having germline mutations.

, 2014
(A) Protein conservation associated with signaling proteins carrying somatic disease mutations is significantly higher than for proteins with germline mutations.
Jae-Seong Yang (151472), Martin H. Schaefer (105581), Christina Kiel (268641), Luis Serrano (5871)   +3 more
core   +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +1 more source

Deep whole genome sequencing of epileptogenic brain lesions

Epilepsia, EarlyView.
Abstract Objective Malformations of cortical development and low‐grade epilepsy‐associated tumors often cause drug‐resistant lesional focal epilepsy (LFE) amenable to surgical treatment. Genetic testing of resected brain tissue can provide diagnostic and mechanistic information and may eventually support personalized treatment approaches.
Christian M. Boßelmann, Costin Leu, Lucas Hoffmann, Roland Coras, Katja Kobow, Hajo Hamer, Daniel Delev, Christian G. Bien, Thilo Kalbhenn, Tom Pieper, Till Hartlieb, Kerstin Becker, Lisa Ferguson, Robyn M. Busch, Peter Nürnberg, Imad Najm, Ingmar Blümcke, Dennis Lal   +17 more
wiley   +1 more source

Patient‐Reported Outcomes with Selpercatinib Treatment Among Patients with RET‐Mutant Medullary Thyroid Cancer in the Phase I/II LIBRETTO‐001 Trial

The Oncologist, EarlyView., 2021
Abstract Background Medullary thyroid cancer (MTC) standard of care includes multikinase inhibitors (MKIs), which can exacerbate disease‐related diarrhea, primarily because of non‐RET kinase inhibition. We report diarrhea and other patient‐reported outcomes (PROs) with selpercatinib, a highly selective RET inhibitor, among patients with RET‐mutant MTC ...
Lori J. Wirth, Bruce Robinson, Valentina Boni, Daniel S.W. Tan, Caroline McCoach, Erminia Massarelli, Lisa M. Hess, Min‐Hua Jen, Jennifer Kherani, Elizabeth Olek, Vivek Subbiah   +10 more
wiley   +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

Predicting Oral Cancer From Precursor Lesions: The Case for a Standardized Framework of Analysis to Improve Prediction Modeling

Head &Neck, EarlyView.
ABSTRACT Oral Cancer often occurs from the transformation of precursor lesions, and this offers an opportunity for early detection. Current methods to assess risk of precursor lesion progression to oral cancer incompletely predict risk. A multimodal framework that leverages machine learning is needed to improve prediction.
Michael E. Troka, James C. Gates
wiley   +1 more source

Double Hit in Clear-Cell Renal Cell Carcinoma With Germline Pathogenic ATM Mutation and Somatic VHL Mutation

Journal of Investigative Medicine High Impact Case Reports
While renal cell carcinoma (RCC) is often linked to smoking, obesity, and hypertension, hereditary forms also account for about 3% of RCC cases. Notably, NCCN guidelines identify 7 major hereditary syndromes associated with an increased RCC risk ...
Kok Hoe Chan MD, Nicolas Duque Clavijo MD, Gustavo Ayala MD, Ryan Hall MD, Curtis Wray MD, Putao Cen MD   +5 more
doaj   +1 more source

Significance of Germline mutations in Pediatric Acute Lymphoblastic leukemia

The primary aim of this thesis is to thoroughly describe the genetics of Pediatric Acute Lymphoblastic leukemia (pALL) , highlight existing literature on germline mutations, investigate and map the current research on the importance of germline mutations
Johnson, Elfreda Erica Balantaa
core