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Potential Common Genetic Risks of Sporadic Parkinson’s Disease and Amyotrophic Lateral Sclerosis in the Han Population of Mainland China

Autor: Yi Lu, Wenzhi Chen, Caihui Wei, Yu Zhu, Renshi Xu

Publikováno v: Frontiers in Neuroscience, Vol 15 (2021)
Frontiers in Neuroscience

Sporadic Parkinson’s disease (sPD) and sporadic amyotrophic lateral sclerosis (sALS) are neurodegenerative diseases characterized by progressive and selective neuron death, with some genetic similarities. In order to investigate the genetic risk fa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::028faeefd1355b8aa1fa40ec0439bb3a
https://www.frontiersin.org/articles/10.3389/fnins.2021.753870/full

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Evidence of two different molecular mechanisms as a consequence of an isolated 20q- abnormality in a case of multiple myeloma accompanied with myelodysplastic syndrome

Autor: Lubomir Mitev

Publikováno v: Leukemia Research Reports
Leukemia Research Reports, Vol 16, Iss, Pp 100273-(2021)

The deletion of the long arm of chromosome 20 is a characteristic cytogenetic marker of myeloid disorders. Rarely, it is also found in lymphoproliferative diseases, including multiple myeloma (MM). The role of 20q- in MM is not fully understood. In t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f0dc6a80109e7dde3038c1f058d9135
http://europepmc.org/articles/PMC8524739

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A haplotype at intron 8 of PTPRT gene is associated with resistance to Brucella infection in Argentinian creole goats

Autor: R. D. Neumann, Carlos A. Rossetti, María Eugenia Caffaro, Ursula A. Rossi, Mario Andres Poli, Flavia C. Hasenauer, A. O. Salatin

Publikováno v: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

Brucellosis is the leading zoonosis on a worldwide scale and constitutes a major public health threat in many regions of the world. Several molecular markers associated with natural resistance to intracellular bacterial infection have been identified

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d35362e924817b78b0c473cf41bff3f
https://www.sciencedirect.com/science/article/pii/S0378113517302341

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A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - case report

Autor: Joanna, Bernaciak, Barbara, Wiśniowiecka-Kowalnik, Jennifer, Castañeda, Anna, Kutkowska-Kaźmierczak, Beata, Nowakowska

Publikováno v: Developmental Period Medicine

Copy-number variants (CNVs) are an important cause of human neurodevelopmental disorders. We present the first case of a 424 kb de novo 20q13.11q13.12 microdeletion in a patient with attention deficit disorder, tics and autistic behaviors, such as em

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d87d7c457901b76c88fc8f0e6fc71c68
https://pubmed.ncbi.nlm.nih.gov/28796977

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Akademický článek

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Akademický článek

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Mutational analysis of PTPRT phosphatase domains in common human cancers

Autor: Sug Hyung Lee, Nam Jin Yoo, Jung Young Lee, Suk Woo Nam, Eun Goo Jeong, Sung Hak Lee, Jong Woo Lee, Sang Ho Kim

Publikováno v: APMIS : acta pathologica, microbiologica, et immunologica Scandinavica. 115(1)

A recent report revealed that the protein-tyrosine phosphatase, receptor-type, T (PTPRT) gene is somatically mutated in several types of human cancer, suggesting that the mutated PTPRT gene is a tumor suppressor gene in human cancers. However, becaus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a197c620c596244167978a69f5163b4f
https://pubmed.ncbi.nlm.nih.gov/17223850

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Somatic PTPRT and ANGPT2 Mutations in Large Granulocyte Leukemia

Autor: Satu Mustjoki, Thomas L. Olson, Caroline A. Heckman, Olli Kallioniemi, Andres Jerez, Emma I. Andersson, Samuli Eldfors, Michael J. Clemente, Hanna Koskela, Thomas P. Loughran, Pekka Ellonen, Jaroslaw P. Maciejewski, Kimmo Porkka

Publikováno v: University of Helsinki

Abstract 1302 Introduction: T-cell large granular lymphocyte (T-LGL) leukemia is a rare, clonal disease characterized by the expansion of mature CD3+CD8+ cytotoxic T-cells. It is often associated with autoimmune disorders and immune-mediated cytopeni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e8b988ae9612d74eb67f21e7ea6030b
https://doi.org/10.1182/blood.v120.21.1302.1302

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Investigations of Genetic Risk Factors in MDS and AML Using High- Density 6.0 Affymetrix Arrays

Autor: Monika Jasek, Sanjay R. Mohan, Bartlomiej P Przychodzen, Anna M. Jankowska, Ramon V. Tiu, Sandra P Smieszek, Lukasz P. Gondek, Jaroslaw P. Maciejewski

Publikováno v: Blood. 112:638-638

Genetic predisposition to MDS and AML is likely polygenic and may involve several low penetrance alleles which in concert with exogenous factors result in highly variable presentation, not easily amenable to genetic studies. With the advent of whole

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b0e0f9d2f054d4772716bdbc5fc07c8a
https://doi.org/10.1182/blood.v112.11.638.638

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