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Bringing monogenic disease screening to the clinic
Nature Medicine, 2020The Healthy Nevada Project shows that otherwise invisible disease risk can be revealed through DNA-based screening. Identifying these monogenic risks could be the first step toward a new population health-screening program.
Michael F, Murray, Monica A, Giovanni
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Mosaic manifestations of monogenic skin diseases
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2009SummaryA genetic mosaic is defined as an organism which is composed of genetically different cell lines which originate from a homogeneous zygote. Etiologically, cutaneous mosaics can be divided into two large categories, epigenetic mosaicism and genomic mosaicism.
Itin, Peter, Burger, Bettina
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Monogenic autoimmune diseases of the endocrine system
The Lancet Diabetes & Endocrinology, 2016The most common endocrine diseases, type 1 diabetes, hyperthyroidism, and hypothyroidism, are the result of autoimmunity. Clustering of autoimmune endocrinopathies can result from polygenic predisposition, or more rarely, may present as part of a wider syndrome due to a mutation within one of seven genes. These monogenic autoimmune diseases show highly
Johnson, M. B. +2 more
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Subtyping monogenic disorders: Huntington disease
2023Huntington disease is a highly disabling neurodegenerative disease characterized by psychiatric, cognitive, and motor deficits. The causal genetic mutation in huntingtin (Htt, also known as IT15), located on chromosome 4p16.3, leads to an expansion of a triplet coding for polyglutamine.
Andrea, Sturchio +3 more
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2021
Stroke is in most cases the consequence of a multifactorial predisposition. However, a number of rare monogenic diseases leading to stroke have been reported and several genes have been identified whose mutations lead to monogenic cerebral small vessel diseases (CSVD), inherited cerebral vascular malformations, and dysplasia.
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Stroke is in most cases the consequence of a multifactorial predisposition. However, a number of rare monogenic diseases leading to stroke have been reported and several genes have been identified whose mutations lead to monogenic cerebral small vessel diseases (CSVD), inherited cerebral vascular malformations, and dysplasia.
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Preimplantation genetic diagnosis for monogenic diseases
Best Practice & Research Clinical Obstetrics & Gynaecology, 2017Preimplantation genetic diagnosis (PGD) was first reported in 1990. Thereafter, more and more indications for PGD, including monogenic diseases (MGD) and translocations, are presently available, and the list of indications of PGD is expanding from early-onset and serious conditions to late-onset diseases. Polymerase chain reaction has been used for PGD
Vivian Chi Yan, Lee +3 more
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The Molecular Genetics of Human Monogenic Diseases
Biotechnology and Genetic Engineering Reviews, 1985Genes et heredite; sondes specifiques d'un gene; analyse directe des mutations; analyse indirecte des maladies genetiques; strategies generales de cartographie des genes (RFLPs); isolement et localisation de sequences specifiques d'un chromosome; cartographie des maladies monogeniques; maladies ...
S P, Ball, S J, Kenwrick, K E, Davies
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Updates on Monogenic Obesity in a Multifactorial Disease
Obesity Surgery, 2019Obesity is a worldwide epidemic with rates nearly doubling over the last 30 years. Despite increasing prevalence, the multifactorial pathogenesis of obesity continues to be widely misunderstood. Investigating genetic drivers in the development of obesity is an important area of focus, as genetics move to the forefront of medicine and personalized ...
Jared Baxter +5 more
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Diagnosis of monogenic chronic kidney diseases
Current Opinion in Nephrology & Hypertension, 2019The purpose of this review is to emphasize that single gene disorders are an important and sometimes unrecognized cause of progressive chronic kidney disease. We provide an overview of the benefits of making a genetic diagnosis, the currently available genetic testing methods and examples of diseases illustrating the impact of a genetic diagnosis ...
Margaret E, Armstrong +1 more
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Molecular analysis of human monogenic diseases
BioEssays, 1987AbstractOver one hundred genes have been isolated from the human genome and shown to be causally related to specific human genetic diseases. Studies with gene‐specific probes have demonstrated that the mutations resulting in a particular phenotype are highly heterogeneous as a group, ranging from alterations in transcription or RNA processing in the ...
K E, Davies, K J, Robson
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