Zobrazeno 1 - 10
of 41
pro vyhledávání: '"mlpa (multiplex ligation-dependent probe amplification)"'
Autor:
Maria Mabyalwa Mudau, Bronwyn Dillon, Clarice Smal, Candice Feben, Engela Honey, Nadia Carstens, Amanda Krause
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with complete age-dependent penetrance, variable expressivity and a global prevalence of ∼1/3,000. It is characteriszed by numerous café-au-lait macules, skin freckling in t
Externí odkaz:
https://doaj.org/article/829aa2fc37e1447ea60602e3bd4756b6
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2023)
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. Although next-generation sequencing (NGS) technology can be used to sequence tens of thousands of DNA molecules simultaneously. It has poor capture effi
Externí odkaz:
https://doaj.org/article/488afc8334894b12b56242724d083551
Akademický článek
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Autor:
Elena Di Pierro, Michele De Canio, Rosa Mercadante, Maria Savino, Francesca Granata, Dario Tavazzi, Anna Maria Nicolli, Andrea Trevisan, Stefano Marchini, Silvia Fustinoni
Publikováno v:
Diagnostics, Vol 11, Iss 8, p 1343 (2021)
Porphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretio
Externí odkaz:
https://doaj.org/article/db7b32fcf4784ac1a2fd2d04969b31f8
Akademický článek
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Autor:
Stočesová, Lucie
Parkinson's disease (PD) is one of the most common neurodegenerative disease in humans. It affects all age categories and the number of patients with this disease is still growing. However, the genetic cause of PD is not yet very clear and new and ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2186::f6f56e5ab0e8b97d13b12e4f34c70b21
http://www.nusl.cz/ntk/nusl-506150
http://www.nusl.cz/ntk/nusl-506150
Autor:
Juan Darío Ortigoza-Escobar, Norito Tamura, Asako Goto, Kentaro Hanada, Shota Sakai, Roser Colomé, Aya Mizuike, Loreto Martorell
Publikováno v:
The Journal of Biological Chemistry
The lipid molecule ceramide is transported from the endoplasmic reticulum to the Golgi apparatus for sphingomyelin production via the ceramide transport protein (CERT), encoded by CERT1. Hyperphosphorylation of CERT's serine-repeat motif (SRM) decrea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d92f6bd36e355923c0feb4eaa7d7a4b
https://pubmed.ncbi.nlm.nih.gov/34688657
https://pubmed.ncbi.nlm.nih.gov/34688657
Autor:
Carmen Espinós, Peter Ferenci
Publikováno v:
JHEP Reports
Summary The diagnosis of Wilson disease is not always easy. For many patients, a combination of tests reflecting disturbed copper metabolism may be needed. Testing for ATP7B variants has become part of the routine diagnostic approach. The methods of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39396ae01056eccafde511e7472b40a1
http://europepmc.org/articles/PMC7322184
http://europepmc.org/articles/PMC7322184
Autor:
Anna Maria Nicolli, Dario Tavazzi, Silvia Fustinoni, Andrea Trevisan, Rosa Mercadante, Stefano Marchini, Francesca Granata, Elena Di Pierro, Maria Savino, Michele De Canio
Publikováno v:
Diagnostics, Vol 11, Iss 1343, p 1343 (2021)
Diagnostics
Diagnostics
Porphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54aec93e3f8b8d28233f6b89ced89acd
https://doi.org/10.3390/diagnostics11081343
https://doi.org/10.3390/diagnostics11081343
Autor:
Abdullah A.Y. Gibriel, Ola Adel
Publikováno v:
Mutation Research. Reviews in Mutation Research
Genetic variants have been reported to cause several genetic diseases. Various genotyping assays have been developed for diagnostic and screening purposes but with certain limitations in sensitivity, specificity, cost effectiveness and/or time saving
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c481b868fa2e6cb68bb79e979fc397ab
https://doi.org/10.1016/j.mrrev.2017.05.001
https://doi.org/10.1016/j.mrrev.2017.05.001