Results 181 to 190 of about 260,030 (390)

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Mutations in the Epidermal Growth Factor Receptor and in KRAS Are Predictive and Prognostic Indicators in Patients With Non–Small-Cell Lung Cancer Treated With Chemotherapy Alone and in Combination With Erlotinib [PDF]

, 2005
David A. Eberhard, Bruce E. Johnson, Lukas C. Amler, Audrey D. Goddard, Sherry Heldens, Roy S. Herbst, William L. Ince, Pasi A. Jänne, Thomas Januario, David H. Johnson, Pam Klein, Vincent A. Miller, M. Ostland, David A. Ramies, Dragan Sebisanovic, Jeremy Stinson, Yu R. Zhang, Somasekar Seshagiri, Kenneth J. Hillan   +18 more
openalex   +1 more source

Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant

Animal Models and Experimental Medicine, EarlyView.
A 6½‐year‐old girl was diagnosed with a medulloblastoma, SHH activated, subtype 3 and TP53 mutant (somatic). After surgery and chemotherapy, she was monitored with quarterly magnetic resonance imaging (MRI) scans and remained free of disease for almost 4 years.
Daniel Antunes Moreno, Bruna Minniti Mançano, Mirella Baroni, Eric Allison Philot, Felipe Antonio de Oliveira Garcia, Murilo Bonatelli, Flávia Escremim de Paula, Iara Viana Vidigal Santana, Gustavo Ramos Teixeira, Mauricio Yamanari, Luciane Sussuchi da Silva, André Escremim de Paula, Augusto Perazzolo Antoniazzi, Adrian Willig, Xiaobin Xing, Zhenyu Xu, Lucas Lourenço, Carlos Almeida Junior, Silvia Aparecida Teixeira, Rui Manuel Reis   +19 more
wiley   +1 more source

KRAS-mutated non-small cell lung cancer: new therapy strategies

Сибирский онкологический журнал
Lung cancer remains one of the most dangerous and most common cancers, requiring constant improvement of diagnostic and treatment methods. The genetic heterogeneity of lung cancer forces us to search for new therapeutic targets in an attempt to achieve ...
K. K. Laktionov, K. A. Sarantseva, L. A. Nelyubina, S. V. Gamayunov, E. A. Kolesnikova, M. G. Gordiev   +5 more
doaj   +1 more source

Diverse alterations associated with resistance to KRAS(G12C) inhibition

Nature, 2021
Yulei Zhao, Y. Murciano-Goroff, Jenny Y. Xue, A. Ang, J. Lucas, T. Mai, A. Da Cruz Paula, A. Y. Saiki, Deanna Mohn, Pragathi Achanta, Anne Sisk, K. Arora, Rohan S Roy, Dongsung Kim, Chuanchuan Li, L. Lim, Mark Li, Amber Bahr, Brian Loomis, E. de Stanchina, J. Reis-Filho, B. Weigelt, M. Berger, Gregory Riely, K. Arbour, J. Lipford, Bob T. Li, P. Lito   +27 more
semanticscholar   +1 more source

Mechanisms of KRAS inhibitor resistance in KRAS-mutant colorectal cancer harboring Her2 amplification and aberrant KRAS localization

npj Precision Oncology
KRAS-specific inhibitors have shown promising antitumor effects, especially in non-small cell lung cancer, but limited efficacy in colorectal cancer (CRC) patients. Recent studies have shown that EGFR-mediated adaptive feedback mediates primary resistance to KRAS inhibitors, but the other resistance mechanisms have not been identified.
Kohei Maruyama, Yuki Shimizu, Yumi Nomura, Tomoko Oh-hara, Yuki Takahashi, Satoshi Nagayama, Naoya Fujita, Ryohei Katayama   +7 more
openaire   +3 more sources

The Vietnamese swine as a translational model of invasive ductal carcinoma of the breast

Animal Models and Experimental Medicine, EarlyView.
The flow diagram outlines the chemical induction of breast tumors through a single intraperitoneal dose of MNU. Tumor development was assessed using ultrasound and clinical examination. After 14 weeks, mammary tissue was collected and histologically analyzed to evaluate structural similarities between sows and humans, the carcinogenic potential of MNU,
Claudia Elizabeth Vera‐Tizatl, Arturo Vera‐Hernández, Lorenzo Leija‐Salas, Marco Antonio Vega‐López, María del Carmen Ramírez‐Estudillo, German Isauro Garrido Fariña, Adriana Leticia Vera‐Tizatl   +6 more
wiley   +1 more source

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

Molecular mechanisms of resistance and new therapeutic approaches in the treatment of colorectal cancer - a review of the literature

Journal of Education, Health and Sport
CRC occupies one of the leading positions among gastrointestinal malignancies and is a significant problem in Europe since it is the third most frequently diagnosed cancer. Recent developments in diagnostic techniques have led to higher chances of early
Maksymilian Janeczek, Julia Plewniok, Maria Partyka, Julia Wójcik, Karolina Kinga Kantor, Marcin Cholewa, Wiktoria Maria Szymańska, Karolina Jaglarz, Maciej Kuca, Kacper Wojciech Pamuła   +9 more
doaj   +1 more source

Role of KRAS in determining response to gefitinib or erlotinib [PDF]

, 2005

openalex   +1 more source