- Genetic Modifiers and Oligogenic Inheritance🔍
- Exploring digenic inheritance in arrhythmogenic cardiomyopathy🔍
- Oligogenic inheritance🔍
- oligogenic properties of Bardet–Biedl syndrome🔍
- Compendium of causative genes and their encoded proteins for ...🔍
- A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases🔍
- a first collection and analysis of digenic diseases🔍
- 1 The Evolving Genetic Landscape of Congenital Disorders ...🔍
Digenic or oligogenic mutations in presumed monogenic disorders
Genetic Modifiers and Oligogenic Inheritance | Request PDF
... Hereditary diseases caused by pathogenic variants in a few genes are much more prevalent-i.e., the so-called oligogenic hereditary diseases [63] .
Exploring digenic inheritance in arrhythmogenic cardiomyopathy
ACM is considered a monogenic disorder, but the low penetrance of mutations identified in patients suggests the involvement of additional ...
Oligogenic inheritance - Wikipedia
Oligogenic inheritance represents an intermediate between monogenic inheritance in which a trait is determined by a single causative gene, and polygenic ...
oligogenic properties of Bardet–Biedl syndrome - Oxford Academic
Although modeled initially as a purely recessive trait, recent data have unmasked an oligogenic mode of disease transmission, in which mutations at different ...
Compendium of causative genes and their encoded proteins for ...
“Simple” monogenic diseases are those for which the clinical features are caused by mutations impacting a single gene, usually in a manner that ...
A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases
For tri-allelic inheritance (which can be synonymous with digenic or oligogenic inheri- tance), at least three mutated alleles are required to ...
a first collection and analysis of digenic diseases
is influenced by variants in other genes, which are genetic modifiers of the disease. Is Cystic Fibrosis a monogenic or an oligogenic disease?
A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases
Phenotypes vary considerably between individuals harbouring the same pathogenic variant in the same putative monogenic gene, even within families sharing common ...
Search | Global Index Medicus - BVS
2. Digenic or oligogenic mutations in presumed monogenic disorders: A review · Afif BEN-MAHMOUD; Vijay GUPTA; Cheol-Hee KIM; Lawrence-C LAYMAN; Hyung-Goo KIM ...
1 The Evolving Genetic Landscape of Congenital Disorders ... - Lirias
[86,87] Between monogenic and polygenic conditions, however, are a group of digenic or oligogenic disorders that result from two or several alleles of ...
Beyond the One Gene–One Disease Paradigm | Circulation
These observations have made it clear that allocating these disorders exclusively to a mutation at a single locus might be an oversimplification ...
Massive Parallel DNA Sequencing of Patients with Inherited ... - MDPI
... disease-causing mutations (DM?). Additionally, we identified 26 novel ... In cases of presumed digenic or oligogenic inheritance in the proband ...
Oligogenic inheritance – Knowledge and References
Although normosmic CIHH and KS have long been considered as monogenic disorders with a Mendelian inheritance pattern, several cases of possible digenic/ ...
Where genotype is not predictive of phenotype
However, reduced penetrance can also occur in autosomal recessive disorders where one and the same mutation can have different phenotypic ...
Digenic or oligogenic mutations in presumed monogenic disorders: A review. Ben-Mahmoud A, Gupta V, Kim CH, Layman LC, Kim HG. KMID: 2544153; J Genet Med. 2023 ...
Mutations in G Protein–Coupled Receptors: Mechanisms ...
... monogenic diseases caused by mutations in ... genetic variation, offering the chance to identify digenic and oligogenic inherited diseases.
The Digenic Causality in Familial Hypercholesterolemia - Frontiers
Single mutations or compound mutations in one of these genes are enough to account for a spectrum of mild to severe phenotypes. However, recently several ...
Monogenic and Digenic Inheritance of Primary Microcephaly - ULB
Different molecular mechanisms explaining digenic disorders are described in [1], Oligogenic disease ... mutations involved in oligogenic diseases tend to be less ...
NAR Breakthrough Article - ScienceOpen
... oligogenic (or polygenic) disorders ... digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
PDZD7 is a modifier of retinal disease and a contributor to digenic ...
To date, Usher syndrome has been considered a Mendelian (monogenic) disorder. We show that PDZD7 mutations may modify disease severity in ...