Personalized medicine in chronic kidney disease by detection of monogenic mutations

DM Connaughton, F Hildebrandt - Nephrology Dialysis …, 2020 - academic.oup.com
… In this review we will place emphasis on monogenic, single-gene disorders … or monogenic
disease (also known as a single-gene disorder), which results from a pathogenic mutation of a …

Monogenic diabetes: genetics and relevance on diabetes mellitus personalized medicine

M Sousa, J Bruges-Armas - Current diabetes reviews, 2020 - ingentaconnect.com
mutation position and clinical phenotype in monogenic diabetes. Hum Mol Genet 2006;
15(14): 2216-24. http://dx.doi.org/10.1093/hmg/ddl147 PMID: 16760222 [17] Mishra R, Chesi A, …

Personalized medicine in diabetes mellitus: current opportunities and future prospects

JW Kleinberger, TI Pollin - Annals of the New York Academy of …, 2015 - Wiley Online Library
mutations of the mother and fetus appears important for ideal glycemic control during pregnancy,
given that maternal GCK mutationspersonalized medicine in treatment of monogenic

Personalized medicine

JH Thrall - Radiology, 2004 - pubs.rsna.org
monogenic inherited disorder—is known, but there are at least a dozen different possible
mutations (… The locations of the mutated genes in the monogenic (mendelian) diseases are …

Personalized medicine: Genetic risk prediction of drug response

G Zhang, DW Nebert - Pharmacology & therapeutics, 2017 - Elsevier
… [a] Monogenic (Mendelian) traits include early examples mostly of inherited disorders, and …
of monogenic drug responses is relatively simple, involving detection of underlying mutations; …

[HTML][HTML] Monogenic diabetes: a gateway to precision medicine in diabetes

H Zhang, K Colclough, AL Gloyn… - The Journal of clinical …, 2021 - Am Soc Clin Investig
… ) caused by a mutation in a single gene … personalized medicine to patients with monogenic
diabetes faces challenges in two aspects: detecting patients suspected of having monogenic

[HTML][HTML] Precsion medicine of monogenic disorders: Lessons learned from the Saudi human genome

M Abedalthagafi - Frontiers in Bioscience-Landmark, 2019 - imrpress.com
… of disease-causing mutations, particularly in patients with monogenic disorders. While NGS
has … and the development of personalized medicine that may arise from this new knowledge. …

[HTML][HTML] A path towards personalized medicine for autoinflammatory and related diseases

JJ Miner, KA Fitzgerald - Nature Reviews Rheumatology, 2023 - nature.com
mutations, including somatic mutations, are creating opportunities to develop personalized
medicines. … In this Perspective article, we highlight the ways in which monogenic autoimmune …

Personalized medicine: hope or hype?

K Salari, H Watkins, EA Ashley - European heart journal, 2012 - academic.oup.com
monogenic disorders have already proven useful. Such changes may usher in a new era of
personalized medicine. … of colorectal cancers where activating mutations in KRAS have been …

Pharmacogenomics: the promise of personalized medicine

L Mancinelli, M Cronin, W Sadée - Aaps Pharmsci, 2000 - Springer
… Family studies revealed that the metabolism of both drugs is under monogenic control and …
23% of Asians, resulting largely from a single base pair mutation (AĺG) in exon 5 of the coding …