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Atopic dermatitis (AD) is a common chronic illness that has been associated with variation in the filaggrin gene (FLG). Four variants are most often evaluated.
This article was published in the following journal.
Name: JAMA dermatology
We hypothesized that filaggrin loss-of-function mutations modify the impact of allergen exposure on the development of allergic sensitization.
Abundant corneocyte surface protrusions, observed in AD patients with filaggrin loss-of-function mutations, are inversely associated with 'natural moisturizing factors' (NMF) levels in the stratum cor...
Pathogenic variants in KCNB1, encoding the voltage-gated potassium channel K 2.1, are associated with developmental and epileptic encephalopathy (DEE). Previous functional studies on a limited number ...
Children display explicit social preferences for native-accented and same-race peers, but when these two markers are in conflict, they prefer native-accented other-race peers over foreign-accented sam...
Purpose This study investigated progressive hearing loss in a cohort of children who were identified with permanent mild bilateral hearing loss. Method This population-based study included 207 childre...
The investigators' primary objective is to identify common and rare mutations in the filaggrin gene in African American patients with a diagnosis of atopic dermatitis and ichthyosis vulgar...
Collect DNA from well-characterized healthy volunteers. DNA will be used to identify and determine allele frequencies of genetic variants in membrane transporters and other genes relevant...
In this study we will interrogate an existing data set to examine whether genetic variants contribute to an inverse association between weight status and cognitive function. We hypothesize...
Caucasian male and female participants age 18 years of age and older will be enrolled in this study if they have known birch or peanut allergies or known to be non-atopic. Participants wil...
Atrial fibrillation (AF) is the most frequently encountered cardiac arrhythmia. Emerging data suggests that common genetic variants are associated with the development of AF. The main feat...
A French overseas department on the northeast coast of South America. Its capital is Cayenne. It was first settled by the French in 1604. Early development was hindered because of the presence of a penal colony. The name of the country and the capital are variants of Guyana, possibly from the native Indian Guarani guai (born) + ana (kin), implying a united and interrelated race of people. (From Webster's New Geographical Dictionary, 1988, p418 & Room, Brewer's Dictionary of Names, 1992, p195)
A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.
A growth differentiation factor that plays a role in the genesis of left-right asymmetry during vertebrate development. Evidence for this role is seen in MICE where loss of growth differentiation factor 1 function results in right-left isomerism of visceral organs. In HUMANS heterozygous loss of growth differentiation factor 1 function has been associated with CONGENITAL HEART DEFECTS and TRANSPOSITION OF GREAT VESSELS.
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...
Eczema is a common itchy skin disease characterized by reddening and vesicle formation, which may lead to weeping and crusting. It is endogenous, or constitutional. There are five main types; atopic, seborrhoeic, discoid, gravitational or varicose. ...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...