Search for Novel Mutational Targets in Human Endocrine Diseases.
Endocrinology
Genes
Genomics
High-throughput nucleotide sequencing
Mutation
Journal
Endocrinology and metabolism (Seoul, Korea)
ISSN: 2093-5978
Titre abrégé: Endocrinol Metab (Seoul)
Pays: Korea (South)
ID NLM: 101554139
Informations de publication
Date de publication:
03 2019
03 2019
Historique:
received:
22
12
2018
revised:
23
01
2019
accepted:
07
02
2019
entrez:
27
3
2019
pubmed:
27
3
2019
medline:
9
4
2020
Statut:
ppublish
Résumé
The identification of disease-causing genetic variations is an important goal in the field of genetics. Advancements in genetic technology have changed scientific knowledge and made it possible to determine the basic mechanism and pathogenesis of human disorders rapidly. Many endocrine disorders are caused by genetic variations of a single gene or by mixed genetic factors. Various genetic testing methods are currently available, enabling a more precise diagnosis of many endocrine disorders and facilitating the development of a concrete therapeutic plan. In this review article, we discuss genetic testing technologies for genetic endocrine disorders, with relevant examples. We additionally describe our research on implementing genetic analysis strategies to identify novel causal mutations in hypocalcemia-related disorders.
Identifiants
pubmed: 30912335
pii: 34.23
doi: 10.3803/EnM.2019.34.1.23
pmc: PMC6435846
doi:
Types de publication
Comparative Study
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
23-28Informations de copyright
Copyright © 2019 Korean Endocrine Society.
Déclaration de conflit d'intérêts
No potential conflict of interest relevant to this article was reported.
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