Results 91 to 100 of about 13,340,828 (402)

From the search for diagnosis to treatment uncertainties: challenges of care for rare genetic diseases in Brazil

Ciência & Saúde Coletiva, 2019
Rare genetic diseases are an important public health problem, but they are still little studied in Collective Health. This article aims to analyze the ‘therapeutic itineraries’ of patients in search of a diagnosis and treatment for rare genetic diseases ...
J. Iriart, M. Nucci, T. Muniz, G. Viana, W. Aureliano, S. Gibbon   +5 more
semanticscholar   +1 more source

Genetics of gallstone disease [PDF]

European Journal of Clinical Investigation, 2018
AbstractBackgroundGallstone disease (GD) belongs to the most frequent disorders in gastroenterology and causes high costs in our health‐care systems. Gallstones are uncommon in children but frequent in adults, in particular in women, and are triggered by exogenous risk factors.
Marcin Krawczyk, Marcin Krawczyk, Charlotte Rebholz, Frank Lammert   +3 more
openaire   +3 more sources

Decoding the dual role of autophagy in cancer through transcriptional and epigenetic regulation

FEBS Letters, EarlyView.
Transcriptional and epigenetic regulation controls autophagy, which exerts context‐dependent effects on cancer: Autophagy suppresses tumorigenesis by maintaining cellular homeostasis or promotes tumor progression by supporting survival under stress. In this “In a Nutshell” article, we explore the intricate mechanisms of the dual function of autophagy ...
Young Suk Yu, Ik Soo Kim, Sung Hee Baek
wiley   +1 more source

Ironing out the details: Untangling dietary iron and genetic background in diabetes [PDF]

, 2018
The search for genetic risk factors in type-II diabetes has been hindered by a failure to consider dietary variables. Dietary nutrients impact metabolic disease risk and severity and are essential to maintaining metabolic health.
Lawson, Heather A, Miranda, Mario A
core   +2 more sources

Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3

Frontiers in Genetics, 2018
Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred.
Sara M. Blazejewski, Sarah A. Bennison, Trevor Smith, K. Toyo-oka   +3 more
semanticscholar   +1 more source

Autophagy in cancer and protein conformational disorders

FEBS Letters, EarlyView.
Autophagy plays a crucial role in numerous biological processes, including protein and organelle quality control, development, immunity, and metabolism. Hence, dysregulation or mutations in autophagy‐related genes have been implicated in a wide range of human diseases.
Sergio Attanasio
wiley   +1 more source

The RaDiCo information system for rare disease cohorts

Orphanet Journal of Rare Diseases
Background Rare diseases (RDs) clinical care and research face several challenges. Patients are dispersed over large geographic areas, their number per disease is limited, just like the number of researchers involved.
Paul Landais, Sonia Gueguen, Annick Clement, Serge Amselem, for the RaDiCo Program   +4 more
doaj   +1 more source

High-Throughput and Cost-Effective Characterization of Induced Pluripotent Stem Cells. [PDF]

, 2017
Reprogramming somatic cells to induced pluripotent stem cells (iPSCs) offers the possibility of studying the molecular mechanisms underlying human diseases in cell types difficult to extract from living patients, such as neurons and cardiomyocytes.
Arias, Angelo, D'Antonio, Matteo, D'Antonio-Chronowska, Agnieszka, Frazer, Kelly A, Goldstein, Lawrence SB, Herrera, Cheryl, Matsui, Hiroko, Nathanson, Jason L, Panopoulos, Athanasia D, Reyna, Sol M, Williams, Roy, Woodruff, Grace, Yeo, Gene W   +12 more
core   +2 more sources

Conceptualization of Genetic Disease [PDF]

, 2015
The expression “genetic disease” suggests the idea that one or more genes cause a disease. Since the identification of the so-called disease-causing genes, many genetic variants associated with common diseases such as diabetes or cancer have been identified.
openaire   +3 more sources

B cell mechanobiology in health and disease: emerging techniques and insights into therapeutic responses

FEBS Letters, EarlyView.
B cells sense external mechanical forces and convert them into biochemical signals through mechanotransduction. Understanding how malignant B cells respond to physical stimuli represents a groundbreaking area of research. This review examines the key mechano‐related molecules and pathways in B lymphocytes, highlights the most relevant techniques to ...
Marta Sampietro, Marco Cellani, Cristina Scielzo   +2 more
wiley   +1 more source