Results 101 to 110 of about 9,825,192 (424)
Routes for breaching and protecting genetic privacy [PDF]
arXiv, 2013 We are entering the era of ubiquitous genetic information for research, clinical care, and personal curiosity. Sharing these datasets is vital for rapid progress in understanding the genetic basis of human diseases. However, one growing concern is the ability to protect the genetic privacy of the data originators.
arxiv
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
Rare manifestation of a c.290 C\u3eT, p.Gly97Glu VCP mutation [PDF]
, 2015 Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods.
Chou, Tsui-Fen +9 more
core +4 more sources
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts [PDF]
arXiv, 2023 Individuals with suspected rare genetic disorders often undergo multiple clinical evaluations, imaging studies, laboratory tests and genetic tests, to find a possible answer over a prolonged period of time. Addressing this "diagnostic odyssey" thus has substantial clinical, psychosocial, and economic benefits.
arxiv
FEBS Letters, EarlyView.The enzyme 5‐lipoxygenase (5‐LOX) catalyzes the first step in the biosynthesis of leukotrienes (LTs) involved in inflammatory pathophysiology. After cellular stimulation, 5‐LOX translocates to the nucleus, interacting with the 5‐LOX‐activating protein (FLAP) to form LTA4 from arachidonic acid (AA).
Erik Romp +5 more
wiley +1 more source
Clinical practice improvement in the genetics clinic [PDF]
Hereditary Cancer in Clinical Practice, 2012 Quality in health is defined as ‘doing the right thing, the first time, in the right way, and at the right time”. A model for practical quality improvement in the genetic unit will be presented, along with tools and techniques relevant to the practice of clinical genetics, and examples from real life practice.
openaire +3 more sources
Outcomes of Genetic Testing in a Genitourinary Genetics Clinic [PDF]
, 2018 Several known hereditary cancer syndromes confer an increased risk for genitourinary (GU)related malignancies. Various guidelines indicate when to refer patients to genetic counseling for GU-related hereditary cancer syndromes but there is limited ...
Pace, Annelise
core +1 more source
Genetic issues in the diagnosis of dystonias [PDF]
, 2013 Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures.
Petrucci S., Valente E. M.
core +1 more source
Multivariate Feature Selection and Autoencoder Embeddings of Ovarian Cancer Clinical and Genetic Data [PDF]
This study explores a data-driven approach to discovering novel clinical and genetic markers in ovarian cancer (OC). Two main analyses were performed: (1) a nonlinear examination of an OC dataset using autoencoders, which compress data into a 3-dimensional latent space to detect potential intrinsic separability between platinum-sensitive and platinum ...
arxiv +1 more source
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 +2 more
wiley +1 more source