Results 91 to 100 of about 11,144,186 (305)

Immunomodulatory properties and molecular effects in inflammatory diseases of low-dose X-irradiation [PDF]

open access: yes, 2012
Inflammatory diseases are the result of complex and pathologically unbalanced multicellular interactions. For decades, low-dose X-irradiation therapy (LD-RT) has been clinically documented to exert an anti-inflammatory effect on benign diseases and ...
Seegenschmiedt, Michael H.   +26 more
core   +1 more source

Genetics of human X-linked immunodeficiency diseases [PDF]

open access: yesClinical and Experimental Immunology, 1991
R W, Hendriks, R K, Schuurman
openaire   +2 more sources

MITF maintains genome stability in nonmelanocyte lineages

open access: yesMolecular Oncology, EarlyView.
MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir   +13 more
wiley   +1 more source

Reticulate Pigmentary Disorders: a review

open access: yesPigment International, 2019
Reticulate pigmentary disorders include presentations with “net-like,” “sieve-like,” or “chicken wire” configuration of the skin lesions. Various congenital and acquired dermatoses, as well as few systemic diseases, are present with this pattern of skin ...
Surabhi Sinha, Anita Kulhari
doaj   +1 more source

Oncogenic DMTF1β promotes cancer cell motility by regulating autophagy through ULK1 stabilization

open access: yesMolecular Oncology, EarlyView.
In the current study, we demonstrate that the oncogene DMTF1β regulates ULK1 stability by reducing its proteasomal degradation in cancer cells. This stabilization enables ULK1 to induce autophagy, which in turn facilitates cancer cell migration. Consequently, reduced DMTF1β levels lead to decreased autophagy and impaired cancer cell migration.
Jun Xu   +13 more
wiley   +1 more source

Current concepts in the treatment of hereditary ataxias

open access: yesArquivos de Neuro-Psiquiatria, 2016
Hereditary ataxias (HA) represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized by progressive ataxia combined with extra-cerebellar and multi-systemic involvements, including peripheral ...
Pedro Braga Neto   +5 more
doaj   +1 more source

A Commentary on Diagnostic and follow-up system for X-linked adrenoleukodystrophy: a comprehensive model for ‘treatable’ genetic diseases [PDF]

open access: yesJournal of Human Genetics, 2010
A Commentary on Diagnostic and follow-up system for X-linked adrenoleukodystrophy: a comprehensive model for ‘treatable’ genetic ...
openaire   +2 more sources

In vitro and in silico modelling of ROS1‐positive non‐small cell lung cancer reveals fusion‐dependent tyrosine kinase inhibitor responses

open access: yesMolecular Oncology, EarlyView.
Drug resistance limits treatment success in a subset of lung cancers driven by ROS1 gene alterations. Using patient‐derived cells and computer simulations, we studied three key mutations and how they affect five targeted drugs. The mutations reduced drug effectiveness in different ways by altering protein structure and behavior.
Farhan Ul Haq   +8 more
wiley   +1 more source

Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency

open access: yes, 2021
Mutations of the IL2RG gene, which encodes for the interleukin-2 receptor common gamma chain (γC, CD132), can lead to X-linked severe combined immunodeficiency (X-SCID) associated with a T−B+NK− phenotype as a result of dysfunctional ...
Paul G. Gratz   +11 more
core   +1 more source

Yeast Augmented Network Analysis (YANA): a new systems approach to identify therapeutic targets for human genetic diseases [v1; ref status: indexed, http://f1000r.es/3gk]

open access: yesF1000Research, 2014
Genetic interaction networks that underlie most human diseases are highly complex and poorly defined. Better-defined networks will allow identification of a greater number of therapeutic targets.
David J. Wiley   +6 more
doaj   +1 more source

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