Results 181 to 190 of about 4,355,944 (375)

Genotype–Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update

, 2015
Ljubica Caldovic, Iman Abdikarim, Sahas Narain, Mendel Tuchman, Hiroki Morizono   +4 more
openalex   +1 more source

Editorial: Legume breeding in transition: innovation and outlook

Frontiers in Genetics, 2023
Aamir Raina, Aamir Raina, Rafiul Amin Laskar, Samiullah Khan, Nasya Borisova Tomlekova, Waltram Ravelombola, Mahendar Thudi   +6 more
doaj   +1 more source

EGFR mutation and resistance of non-small-cell lung cancer to gefitinib.

New England Journal of Medicine, 2005
Susumu S. Kobayashi, T. Boggon, Tajhal Dayaram, P. Jänne, O. Kocher, M. Meyerson, B. Johnson, M. Eck, D. Tenen, B. Halmos   +9 more
semanticscholar   +1 more source

Structural Mutations [PDF]

Nature, 1961
H R, MAHLER, D, FRASER
openaire   +2 more sources

CDK11 inhibition induces cytoplasmic p21WAF1 splice variant by p53 stabilisation and SF3B1 inactivation

Molecular Oncology, EarlyView.
CDK11 inhibition stabilises the tumour suppressor p53 and triggers the production of an alternative p21WAF1 splice variant p21L, through the inactivation of the spliceosomal protein SF3B1. Unlike the canonical p21WAF1 protein, p21L is localised in the cytoplasm and has reduced cell cycle‐blocking activity.
Radovan Krejcir, Lukasz Arcimowicz, Lucia Martinkova, Vaclav Hrabal, Filip Zavadil Kokas, Tomas Henek, Martina Kucerikova, Ondrej Bonczek, Pavlina Zatloukalova, Lenka Hernychova, Philip J. Coates, Borivoj Vojtesek, David P. Lane   +12 more
wiley   +1 more source

Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension [PDF]

, 2010
Barbara Girerd, David Montani, Mélanie Eyries, Azzedine Yaïci, Benjamin Sztrymf, Florence Coulet, Olivier Sitbon, Gérald Simonneau, Florent Soubrier, Marc Humbert   +9 more
openalex   +1 more source

Targeted treatment of severe vascular malformations harboring PIK3CA and TEK mutations with alpelisib is highly effective with limited toxicity [PDF]

, 2023
Martin Štěrba, Petra Pokorná, Renata Faberova, Blanka Pinková, Jarmila Skotáková, Anna Seehofnerová, Jan Blatný, Lucia Janigova, Olga Koskova, Hana Pálová, Michal Mahdal, Lukas Pazourek, Petr Jabandžiev, Ondřej Slabý, Peter Múdrý, Jaroslav Štěrba   +15 more
openalex   +1 more source

A gain-of-function mutation of JAK2 in myeloproliferative disorders.

New England Journal of Medicine, 2005
R. Kralovics, F. Passamonti, A. Buser, Soon-Siong Teo, R. Tiedt, J. Passweg, A. Tichelli, M. Cazzola, R. Skoda   +8 more
semanticscholar   +1 more source

Liquid biopsy epigenetics: establishing a molecular profile based on cell‐free DNA

Molecular Oncology, EarlyView.
Cell‐free DNA (cfDNA) fragments in plasma from cancer patients carry epigenetic signatures reflecting their cells of origin. These epigenetic features include DNA methylation, nucleosome modifications, and variations in fragmentation. This review describes the biological properties of each feature and explores optimal strategies for harnessing cfDNA ...
Christoffer Trier Maansson, Anders Lade Nielsen, Boe Sandahl Sorensen   +2 more
wiley   +1 more source

Pyrazinamide Resistance and pncA Gene Mutations in Mycobacterium tuberculosis

, 2008
Pontus Juréen, Jim Werngren, Juan-Carlos Toro, Sven Hoffner   +3 more
openalex   +1 more source