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Published in 2023 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6347
Abstract: Proof‐of‐principle disease models have demonstrated the feasibility of an intrauterine gene modification therapy (in utero gene therapy (IUGT)) approach to hereditary diseases as diverse as coagulation disorders, haemoglobinopathies, neurogenetic disorders, congenital metabolic, and pulmonary diseases.…
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Keywords:
gene modification;
pathology;
modification therapies;
gene ... See more keywords
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Published in 2018 at "Chromatographia"
DOI: 10.1007/s10337-018-3478-4
Abstract: It is a rare privilege to read a book that discloses not only the history of a major scientific breakthrough, but also the thought processes of the team of scientists that eventually led to its…
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Keywords:
dounda samuel;
hereditary diseases;
jennifer dounda;
book ... See more keywords
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Published in 2017 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2016.09.537
Abstract: Background The comparative role of heredity in the etiology of schizophrenic disorders is estimated as 60-70%, other 30-40% is the share of the environment. However, modern molecular-genetic technologies, including full-genomic, are not able to explain…
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Keywords:
schizophrenia;
genetics;
multiple factor;
hereditary diseases ... See more keywords
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Published in 2019 at "Biochemical Society transactions"
DOI: 10.1042/bst20180423
Abstract: Coenzyme A (CoA) thioesters (acyl-CoAs) are essential intermediates of metabolism. Inborn errors of acyl-CoA metabolism include a large fraction of the classical organic acidemias. These conditions can involve liver, muscle, heart and brain, and can…
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Keywords:
coa;
thioester metabolism;
metabolism;
coenzyme thioester ... See more keywords
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Published in 2019 at "BMC Medical Genomics"
DOI: 10.1186/s12920-019-0487-6
Abstract: BackgroundThousands of long non-coding RNA (lncRNA) genes are annotated in the human genome. Recent studies showed the key role of lncRNAs in a variety of fundamental cellular processes. Dysregulation of lncRNAs can drive tumorigenesis and…
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Keywords:
role long;
coding rnas;
long non;
hereditary diseases ... See more keywords
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2
Published in 2023 at "Molecular systems biology"
DOI: 10.15252/msb.202211407
Abstract: How do aberrations in widely expressed genes lead to tissue-selective hereditary diseases? Previous attempts to answer this question were limited to testing a few candidate mechanisms. To answer this question at a larger scale, we…
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Keywords:
disease;
tissue selective;
tissue;
gene ... See more keywords
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Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23084255
Abstract: Inherited diseases caused by connexin mutations are found in multiple organs and include hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin diseases, and X-linked Charcot–Marie–Tooth disease (CMT1X). A large number of knockout and knock-in…
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Keywords:
function;
pathology;
mutations hereditary;
cx32 ... See more keywords
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Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24032463
Abstract: Next Generation Sequencing (NGS) technologies are rapidly entering clinical practice. A promising area for their use lies in the field of newborn screening. The mass screening of newborns using NGS technology leads to the discovery…
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Keywords:
acid substitutions;
amino acid;
newborn screening;
freely available ... See more keywords