Gene modification therapies for hereditary diseases in the fetus
Sign Up to like & getrecommendations! 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.… read more here.
Keywords: gene modification; pathology; modification therapies; gene ... See more keywords
Jennifer A. Dounda and Samuel H. Steinberg: A Crack in Creation—The New Power to Control Evolution
Sign Up to like & getrecommendations! 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… read more here.
Keywords: dounda samuel; hereditary diseases; jennifer dounda; book ... See more keywords
T49 Comorbidity Of Multiple-Factor And Hereditary Diseases In Families: Contribution To Schizophrenia Genetics
Sign Up to like & getrecommendations! 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… read more here.
Keywords: schizophrenia; genetics; multiple factor; hereditary diseases ... See more keywords
Hereditary diseases of coenzyme A thioester metabolism.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: coa; thioester metabolism; metabolism; coenzyme thioester ... See more keywords
The role of long non-coding RNAs in the pathogenesis of hereditary diseases
Sign Up to like & getrecommendations! 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… read more here.
Keywords: role long; coding rnas; long non; hereditary diseases ... See more keywords
Predicting molecular mechanisms of hereditary diseases by using their tissue-selective manifestation.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: disease; tissue selective; tissue; gene ... See more keywords
Connexin Mutations and Hereditary Diseases
Sign Up to like & getrecommendations! 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… read more here.
Keywords: function; pathology; mutations hereditary; cx32 ... See more keywords
SAV-Pred: A Freely Available Web Application for the Prediction of Pathogenic Amino Acid Substitutions for Monogenic Hereditary Diseases Studied in Newborn Screening
Sign Up to like & getrecommendations! 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… read more here.
Keywords: acid substitutions; amino acid; newborn screening; freely available ... See more keywords