Cargando…

PCR artifacts can explain the reported biallelic JAK2 mutations

Detalles Bibliográficos
Autores principales:	Gao, R, Zhao, A H, Du, Y, Ho, W T, Fu, X, Zhao, Z J
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2012
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3288281/ https://www.ncbi.nlm.nih.gov/pubmed/22829246 http://dx.doi.org/10.1038/bcj.2012.2

Ejemplares similares

Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia
por: Colin, Elia, et al.
Publicado: (2021)

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
por: Eletto, Davide, et al.
Publicado: (2016)

Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation
por: Thian, Marini, et al.
Publicado: (2020)

Biallelic CXCR2 loss-of-function mutations define a distinct congenital neutropenia entity
por: Marin-Esteban, Viviana, et al.
Publicado: (2021)

Biallelic mutations in cancer genomes reveal local mutational determinants
por: Demeulemeester, Jonas, et al.
Publicado: (2022)

Chronic neutrophilic leukemia with JAK2 mutation: is it true chronic neutrophilic leukemia?
por: Gao, Jiapei, et al.
Publicado: (2023)

Good response to PAH-targeted drugs in a PVOD patient carrying Biallelic EIF2AK4 mutation
por: Liang, Li, et al.
Publicado: (2018)

Activation of Jak2 in patients with blast crisis chronic myelogenous leukemia: inhibition of Jak2 inactivates Lyn kinase
por: Chakraborty, S, et al.
Publicado: (2013)

The JAK2 V617F mutation in isolated neutropenia
por: Langabeer, Stephen E.
Publicado: (2018)

Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy
por: Barcia, Giulia, et al.
Publicado: (2019)

Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development
por: Zhao, Lin, et al.
Publicado: (2020)

Hemochromatosis, Erythrocytosis and the JAK2 p.V617F Mutation
por: Langabeer, Stephen E.
Publicado: (2017)

Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3
por: Invernizzi, Federica, et al.
Publicado: (2021)

CORDLESS PHONE INDUCED ARTIFACT ON EEG
por: Khalid, Abdul, et al.
Publicado: (1998)

Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11
por: Nguyen, Amie, et al.
Publicado: (2023)

Paroxysmal nocturnal hemoglobinuria and concurrent JAK2(V617F) mutation
por: Sugimori, C, et al.
Publicado: (2012)

The JAK2 V617F mutation in retinal vein or artery occlusion
por: Langabeer, Stephen E.
Publicado: (2019)

Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome
por: Scala, Marcello, et al.
Publicado: (2022)

Mammographic artifact leading to false-positive result
por: Avelar, Matheus Silveira, et al.
Publicado: (2015)

Lanthanum carbonate hydrate causes artifacts on ultrasound
por: Kuroiwa, Kaori K., et al.
Publicado: (2015)

JAK2 exon 12 mutation-positive myeloproliferative neoplasm associated with recurrent thromboembolism
por: Tavakoli, Vahid, et al.
Publicado: (2017)

Biallelic CLPB mutation associated with isolated neutropenia and 3‐MGA‐uria
por: Rivalta, Beatrice, et al.
Publicado: (2022)

Ventricular tachycardia-like electrocardiographic artifact on total thyroidectomy
por: Cho, Yong Sung, et al.
Publicado: (2013)

Definity Contrast Artifact in Transcranial Doppler Emboli Monitoring
por: Ramanathan, Ramnath Santosh
Publicado: (2018)

Heart in the Mirror: Artifacts as a Violation of Ultrasonography Assumptions
por: Dułak, Natalia Aleksandra, et al.
Publicado: (2022)

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
por: Rydning, Siri L, et al.
Publicado: (2019)

MARIMO cells harbor a CALR mutation but are not dependent on JAK2/STAT5 signaling
por: Kollmann, K, et al.
Publicado: (2015)

Differences in Hematological and Clinical Features Between Essential Thrombocythemia Cases With JAK2- or CALR-Mutations
por: Kubuki, Yoko, et al.
Publicado: (2017)

“JAK2 V617F Mutation in Cervical Cancer Related to HPV & STIs” - Letter
por: Langabeer, Stephen E.
Publicado: (2019)

Can ChatGPT explain it? Use of artificial intelligence in multiple sclerosis communication
por: Inojosa, Hernan, et al.
Publicado: (2023)

JAK/STAT Pathway Mutations in T-ALL, Including the STAT5B N642H Mutation, are Sensitive to JAK1/JAK3 Inhibitors
por: Govaerts, Inge, et al.
Publicado: (2019)

Frequent CALR exon 9 alterations in JAK2 V617F-mutated essential thrombocythemia detected by high-resolution melting analysis
por: Lim, K-H, et al.
Publicado: (2015)

Coexistence of BCR/ABL1-positive chronic myeloid leukemia and JAK2 V617F-mutated myelofibrosis successfully treated with dasatinib and ruxolitinib
por: Yi, Jun Ho, et al.
Publicado: (2019)

Dominant mutations in CHK1 cause pronuclear fusion failure and zygote arrest that can be rescued by CHK1 inhibitor
por: Zhang, Honghui, et al.
Publicado: (2021)

Resolution of thrombocytopenia, but not polycythemia after ruxolitinib for polycythemia vera with detectable mutation in the exon 12 of the JAK2 gene
por: Helbig, Grzegorz, et al.
Publicado: (2017)

Beware of Artifacts Images Created by the Acoustic enhancement of the Endometria in Ultrasound Examination
por: Andrianah, Gabrielle Emmylou Prisca, et al.
Publicado: (2020)

Backdoor intrusion: retrotoxicity can explain targeted motor neuron death in amyotrophic lateral sclerosis
por: McKinnon, Randall D.
Publicado: (2020)

The ‘Holy Grail’ and ‘Poisoned Chalice’ Effects of Antipsychotics on Oxidative Stress in Schizophrenia: Can ‘Hormesis’ Explain this Paradox?
por: Venkatasubramanian, Ganesan
Publicado: (2012)

Maltese cross: Starch artifact in oral cytology, divulged through polarized microscopy
por: Jadhav, Kiran Balasaheb, et al.
Publicado: (2010)

Analysis of Artifacts on MRI from Electronic Identification Enablement in Silicone Gel Implants
por: Munhoz, Alexandre Mendonça
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_69mhsaapj481doe1h99ojoaf4e