Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes
Sign Up to like & getrecommendations! Published in 2020 at "International Ophthalmology"
DOI: 10.1007/s10792-020-01559-2
Abstract: Purpose Achromatopsia (ACHM) is an autosomal recessive cone disorder characterized by pendular nystagmus, photophobia, reduced visual acuity, and partial or total absence of color vision. Mutations in six genes ( CNGA3 , CNGB3 , GNAT2… read more here.
Keywords: molecular clinical; cnga3 cngb3; disease; thai patients ... See more keywords
Molecular and clinical characteristics related to rhinovirus infection in Brasília, Brazil
Sign Up to like & getrecommendations! Published in 2021 at "Brazilian Journal of Microbiology"
DOI: 10.1007/s42770-020-00411-0
Abstract: Introduction Human rhinovirus (HRV) is one of the most common human viral pathogens related to infections of the upper and lower respiratory tract, which can result in bronchiolitis and pneumonia. However, the relevance of HRV… read more here.
Keywords: bras lia; molecular clinical; infection; characteristics related ... See more keywords
Translational Bioinformatics to Enable Precision Medicine for All: Elevating Equity across Molecular, Clinical, and Digital Realms
Sign Up to like & getrecommendations! Published in 2022 at "Yearbook of Medical Informatics"
DOI: 10.1055/s-0042-1742513
Abstract: Summary Objectives : Over the past few years, challenges from the pandemic have led to an explosion of data sharing and algorithmic development efforts in the areas of molecular measurements, clinical data, and digital health.… read more here.
Keywords: translational bioinformatics; clinical digital; equity; across molecular ... See more keywords
PD-L2 expression is correlated with the molecular and clinical features of glioma, and acts as an unfavorable prognostic factor
Sign Up to like & getrecommendations! Published in 2019 at "Oncoimmunology"
DOI: 10.1080/2162402x.2018.1541535
Abstract: ABSTRACT Background: Gliomas are aggressive tumors with various molecular and clinical characteristics and exhibit strongly resistance to radio-chemotherapy. Programmed cell death 1 ligand 2 (PD-L2) is a cell surface protein, which was reported in many… read more here.
Keywords: expression; correlated molecular; glioma; expression level ... See more keywords
Xenosterolemia: emerging molecular and clinical insights.
Sign Up to like & getrecommendations! Published in 2017 at "Current opinion in lipidology"
DOI: 10.1097/mol.0000000000000463
Abstract: DOI:10.1097/MOL.0000000000000463 Elucidation of the crystal structure of the ATP-binding cassette sub-family G, members 5 and 8 (ABCG5G8) heterodimer responsible for excretion of xenosterols (sterols other than cholesterol) from the liver and into the intestinal lumen… read more here.
Keywords: excretion; molecular clinical; cholesterol; xenosterolemia emerging ... See more keywords
Molecular and Clinical Insights into the Invasive Capacity of Glioblastoma Cells
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Oncology"
DOI: 10.1155/2019/1740763
Abstract: The invasive capacity of GBM is one of the key tumoral features associated with treatment resistance, recurrence, and poor overall survival. The molecular machinery underlying GBM invasiveness comprises an intricate network of signaling pathways and… read more here.
Keywords: molecular clinical; infiltrative tumor; invasive capacity; clinical insights ... See more keywords
Abstract 2491: Molecular and clinical characterization of the new WHO entity ‘Astroblastoma, MN1 altered’ and its molecular subgroups
Sign Up to like & getrecommendations! Published in 2022 at "Cancer Research"
DOI: 10.1158/1538-7445.am2022-2491
Abstract: Using DNA methylation profiling, already in 2016 we had identified novel molecularly defined CNS tumor entities, including CNS high grade neuroepithelial tumors with MN1 alteration (HGNET-MN1), which have in the recently updated WHO classification of… read more here.
Keywords: entity; mn1 altered; cxxc5 fused; astroblastoma mn1 ... See more keywords
Abstract 1057: Development/validation of a molecular and clinical evidence-based algorithm for selecting optimal precision therapeutic strategy for cancer patients
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-1057
Abstract: Background Tumor complexity and heterogeneity require matching of actionable genomic alterations with available therapy to increase response rates and prolong survival in patients. However, it has been a long-standing challenge for treating oncologists to select… read more here.
Keywords: clinical evidence; molecular clinical; based algorithm; evidence based ... See more keywords
Cyclophosphamide induces durable molecular and clinical responses in patients with relapsed T-LGL leukemia
Sign Up to like & getrecommendations! Published in 2022 at "Blood Advances"
DOI: 10.1182/bloodadvances.2021006263
Abstract: T-cell large granular lymphocytic leukemia (T-LGLL) is a clonal proliferation of cytotoxic T-lymphocytes with a terminal effectory memory phenotype (CD3 1 /CD8 1 /CD5dim/CD57 1 /CD62L/CD45RA / CD45RO 2 ) that can result in severe… read more here.
Keywords: response; durable molecular; cyclophosphamide induces; leukemia ... See more keywords
Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region
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DOI: 10.1186/s13039-017-0336-2
Abstract: BackgroundThree distinct contiguous gene deletion syndromes are located at 10p chromosomal region. The deletion, involving 10p15.3 region, has been characterized by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012). However, because of the… read more here.
Keywords: region molecular; molecular clinical; deletion; deletion 10p15 ... See more keywords
Heterogeneity of Axenfeld–Rieger Syndrome: Molecular and Clinical Findings in Chinese Patients
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.732170
Abstract: Axenfeld–Rieger Syndrome (ARS) is a rare disease with a wide spectrum of ocular and systemic manifestations. The genetic spectrum of Chinese patients with ARS and genotype-phenotype correlations have yet to be described. To explore the… read more here.
Keywords: rieger syndrome; molecular clinical; systemic manifestations; axenfeld rieger ... See more keywords