Results 61 to 70 of about 47,631 (258)
Dermatologic and Dermatopathologic Features of Monogenic Autoinflammatory Diseases [PDF]
Frontiers in Immunology, 2019 Autoinflammatory diseases include disorders with a monogenic cause and also complex conditions associated to polygenic or multifactorial factors. An increased number of both monogenic and polygenic autoinflammatory conditions have been identified during the last years.
Figueras Nart, Ignasi +3 more
openaire +4 more sources
From Selective Permeation to Physiology in Potassium Channels
FunctionHighly K+-selective potassium channels are essential for electrical signaling. The high selectivity of most K+ channels, with relative K+: Na+ permeabilities being as high as 100–1000:1 arises from the conserved so-called K+ channel selectivity filter ...
Sun-Joo Lee +5 more
doaj +1 more source
Cytometry Part B: Clinical Cytometry, EarlyView.Abstract Our knowledge of the immune system continues to expand at a rapid pace, and this coupled with technological advances now enables us to interrogate both the breadth and the depth of the immune response at levels without precedent. This has also facilitated rapidly integrating some of this carefully vetted knowledge into clinical practice ...
Aaruni Khanolkar, Aisha Ahmed
wiley +1 more source
Considerations for drug trials in hypertrophic cardiomyopathy
ESC Heart Failure, Volume 12, Issue 2, Page 1095-1112, April 2025.Abstract Hypertrophic cardiomyopathy (HCM) is a heterogeneous condition with potentially serious manifestations. Management has traditionally comprised therapies to palliate symptoms and implantable cardioverter‐defibrillators to prevent sudden cardiac death. The need for disease‐modifying therapies has been recognized for decades.
John P. Farrant +17 more
wiley +1 more source
EMBO Molecular Medicine, 2018 Herein, we report the first identification of biallelic‐inherited mutations in ALPI as a Mendelian cause of inflammatory bowel disease in two unrelated patients.
Marianna Parlato +21 more
doaj +1 more source
Epilepsia, EarlyView.Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli +43 more
wiley +1 more source
An n‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition
Epilepsia, EarlyView.Abstract Objective Gain‐of‐function (GoF) variants in the KCNC1 potassium channel subunit gene (Kv3.1) cause motor/cognitive delays and hypotonia and have been associated with seizures. Fluoxetine has inhibitory effects on Kv3.1. However, open‐label nonrandomized administration is insufficient to guide clinical decision‐making in ultrarare conditions ...
Vedika Jha +13 more
wiley +1 more source
Monogenic polyautoimmunity in primary immunodeficiency diseases
Autoimmunity Reviews, 2018 Primary immunodeficiency diseases (PIDs) consist of a large group of genetic disorders that affect distinct components of the immune system. PID patients are susceptible to infection and non-infectious complications, particularly autoimmunity. A specific group of monogenic PIDs are due to mutations in genes that are critical for the regulation of ...
Azizi G. +6 more
openaire +2 more sources
Balkan Journal of Medical GeneticsEarly pregnancy loss (EPL), particularly when recurrent, represents a profoundly distressing experience for affected couples. Although chromosomal abnormalities are the most common cause of EPL, a substantial proportion of cases, especially those ...
Bozhinovski Gj +4 more
doaj +1 more source