Výsledky vyhledávání - "Molecular Abnormality"

Akademický článek

Clinical and molecular characteristics of acute myeloid leukemia and the dismal prognosis of TP53 mutations in a real-world setting

Autor: Hong Liu, Yuye Shi, Shandong Tao, Yunjie Li, Chunling Wang, Liang Yu

Publikováno v: Hematology, Vol 28, Iss 1 (2023)

ABSTRACTObjectives: This study aimed to evaluate the incidence and prognostic significance of common cytogenetic and molecular abnormalities in patients with TP53-mutated and non-TP53-mutated acute myeloid leukemia (AML).Methods: We retrospectively a

Externí odkaz: https://doaj.org/article/df7cc8bab96940b1897b2901ba0eaff3

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Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency

Autor: Faranaz Atschekzei, Natalia Dubrowinskaja, Georgios Sogkas, Torsten Witte, Reinhold E. Schmidt, Bodo Grimbacher, Ulrich Baumann, Katharina Schütz, Jasper Götting, Nicolaus Schwerk, Lars Steinbrück

Publikováno v: Int Arch Allergy Immunol

Introduction: Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders characterized by increased susceptibility to infections, immune dysregulation, and/or malignancy. Genetic studies, especially during the last decade, led to a bett

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9482ffe058f46aa880792fc54d26738
https://doi.org/10.1159/000519199

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Mucoepidermoid Carcinoma of the Breast With MAML2 Rearrangement: A Case Report and Literature Review

Autor: Mingfei Yan, Aparna Harbhajanka, Hannah Gilmore

Publikováno v: International Journal of Surgical Pathology. 28:787-792

Mucoepidermoid carcinoma is one of the most common malignancies in salivary glands. In comparison, breast mucoepidermoid carcinoma is a very rare entity, with limited reports and understanding of its clinical behaviors to date. In this article, we re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f55bd997652fc977e543db1ffa8e3381
https://doi.org/10.1177/1066896920916779

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MICROSATELLITE INSTABILITY AND GASTRIC CARCINOMA. REVIEW OF THELITERATURE

Publikováno v: Russian Journal of Biotherapy. 18:17-24

Carcinoma of the stomach is wide spread malignancy with the poor prognosis. Recent investigations of the genome features let to consider this tumor as heterogeneous lesion, presenting different biological subtypes. Each of those subtypes has its own

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d90d15e62aaaa912b678044f171cc21e
https://doi.org/10.17650/1726-9784-2019-18-4-17-24

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Intermediate between Idiopathic Hypereosinophilia and Chronic Eosinophilic Leukemia: A Report of Two Hypereosinophilic Cases with Possible Novel Molecular Mutations

Autor: Yang Shi, Yanhua Wang, Mohammad Eskandari, Jui Choudhuri

Publikováno v: Case Reports in Hematology
Case Reports in Hematology, Vol 2021 (2021)

To distinguish a reactive eosinophilia from its malignant counterpart is challenging. Establishing clonality of the eosinophils is crucial and considered the determining factor for establishing a diagnosis. Cases of hypereosinophilia without clear re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::311e9559078dd78509c55fce9e76135f
http://europepmc.org/articles/PMC8426067

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Akademický článek

Two Types of Abnormal Genes for Plasminogen in Families with a Predisposition for Thrombosis

Autor: Ichinose, Akitada, Espling, Erik S., Takamatsu, Junki, Saito, Hidehiko, Shinmyozu, Koichi, Maruyama, Ikuro, Petersen, Torben E., Davie, Earl W.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 1991 Jan 01. 88(1), 115-119.

Externí odkaz: https://www.jstor.org/stable/2355720

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Akademický článek

Antithrombin III Toyama: Replacement of Arginine-47 by Cysteine in Hereditary Abnormal Antithrombin III That Lacks Heparin-Binding Ability

Autor: Koide, Takehiko, Odani, Shoji, Takahashi, Kaoru, Ono, Teruo, Sakuragawa, Nobuo

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 1984 Jan . 81(2), 289-293.

Externí odkaz: https://www.jstor.org/stable/22667

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Akademický článek

Plasminogen Tochigi: Inactive Plasmin Resulting from Replacement of Alanine-600 by Threonine in the Active Site

Autor: Miyata, Toshiyuki, Iwanaga, Sadaaki, Sakata, Yoichi, Aoki, Nobuo

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 1982 Oct . 79(20), 6132-6136.

Externí odkaz: https://www.jstor.org/stable/12826

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Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment

Autor: Bridget E. Bax

Publikováno v: Journal of translational genetics and genomics

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disease caused by mutations in TYMP, the gene encoding for the enzyme thymidine phosphorylase. The resulting enzyme deficiency leads to a systemic accumulation of thymidin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::295ab33a6da6674c6e844b8270a9bda7
https://pubmed.ncbi.nlm.nih.gov/32914088

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