Candidate modifier genes for immune function in 22q11.2 deletion syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1057
Abstract: The 22q11.2 deletion syndrome (22q11.2DS) is the most common contiguous microdeletion affecting humans and exhibits extreme phenotypic heterogeneity. Patients can manifest any combination of comorbidities including congenital heart disease, hypoparathyroidism, cleft palate, kidney abnormalities, neurodevelopmental… read more here.
Keywords: deletion syndrome; candidate modifier; genes immune; modifier genes ... See more keywords
Modifier genes in SCN1A‐related epilepsy syndromes
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DOI: 10.1002/mgg3.1103
Abstract: SCN1A is one of the most important epilepsy‐related genes, with pathogenic variants leading to a range of phenotypes with varying disease severity. Different modifying factors have been hypothesized to influence SCN1A‐related phenotypes. We investigate the… read more here.
Keywords: epilepsy; epilepsy syndromes; related epilepsy; modifier genes ... See more keywords
Characterizing modifier genes of cardiac fibrosis phenotype in hypertrophic cardiomyopathy.
Sign Up to like & getrecommendations! Published in 2021 at "International journal of cardiology"
DOI: 10.1016/j.ijcard.2021.01.047
Abstract: BACKGROUND Clinical phenotypes of hypertrophic cardiomyopathy (HCM) vary greatly even among patients with the same gene mutations. This variability is largely regulated by unidentified modifier loci. The purpose of the study is to identify modifier… read more here.
Keywords: phenotype; fibrosis; cardiac fibrosis; modifier genes ... See more keywords
Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings
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DOI: 10.1111/ped.13052
Abstract: In single gene disorders, patients with the same genotype may have variations in severity. One of the main factors affecting disease severity is modifier genes. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder… read more here.
Keywords: spinal muscular; modifier genes; genes spinal; transcript levels ... See more keywords
In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis
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DOI: 10.1371/journal.pone.0173822
Abstract: Cystic Fibrosis is the most common lethal autosomal recessive disorder in the white population, affecting among other organs, the lung, the pancreas and the liver. Whereas Cystic Fibrosis is a monogenic disease, many studies reveal… read more here.
Keywords: cystic fibrosis; fibrosis; disease; modifier genes ... See more keywords
Blood co-expression modules identify potential modifier genes of diabetes and lung function in cystic fibrosis
Sign Up to like & getrecommendations! Published in 2020 at "PLoS ONE"
DOI: 10.1371/journal.pone.0231285
Abstract: Cystic fibrosis (CF) is a rare genetic disease that affects the respiratory and digestive systems. Lung disease is variable among CF patients and associated with the development of comorbidities and chronic infections. The rate of… read more here.
Keywords: cystic fibrosis; blood; lung function; modifier genes ... See more keywords
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment
Sign Up to like & getrecommendations! Published in 2022 at "PLOS ONE"
DOI: 10.1371/journal.pone.0278857
Abstract: Cone-rod dystrophies (CORDs) are a heterogeneous group of inherited retinopathies (IRDs) with more than 30 already known disease-causing genes. Uncertain phenotypes and extended range of intra- and interfamilial heterogenicity make still difficult to determine a… read more here.
Keywords: family; cone; cone rod; modifier genes ... See more keywords
Candidate Modifier Genes for the Penetrance of Leber’s Hereditary Optic Neuropathy
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms231911891
Abstract: Leber’s hereditary optic neuropathy (LHON) is a maternally transmitted disease caused by mitochondria DNA (mtDNA) mutation. It is characterized by acute and subacute visual loss predominantly affecting young men. The mtDNA mutation is transmitted to… read more here.
Keywords: optic neuropathy; penetrance; analysis; modifier genes ... See more keywords
Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232214205
Abstract: Although cystic fibrosis (CF) is recognized as a monogenic disease, due to variants within the CFTR (Cystic Fibrosis Transmembrane Regulator) gene, an extreme clinical heterogeneity is described among people with CF (pwCF). Apart from the… read more here.
Keywords: cftr variants; modifier factors; modifier genes; fibrosis ... See more keywords