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001-es BibID:	BIBFORM074271
035-os BibID:	(WoS)000438781600007 (Scopus)85047721348
Első szerző:	Agostini, Maura
Cím:	A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations / Maura Agostini, Erik Schoenmakers, Junaid Beig, Louise Fairall, Istvan Szatmari, Odelia Rajanayagam, Frederick W. Muskett, Claire Adams, A. David Marais, Stephen O'Rahilly, Robert K. Semple, Laszlo Nagy, Amit R. Majithia, John W. R. Schwabe, Dirk J. Blom, Rinki Murphy, Krishna Chatterjee, David B. Savage
Dátum:	2018
ISSN:	0012-1797
Megjegyzések:	Loss-of-function mutations in PPARG cause familial partial lipodystrophy type 3 (FPLD3) and severe metabolic disease in many patients. Missense mutations in PPARG are present in ?1 in 500 people. Although mutations are often binarily classified as benign or deleterious, prospective functional classification of all missense PPARG variants suggests that their impact is graded. Furthermore, in testing novel mutations with both prototypic endogenous (e.g., prostaglandin J2 [PGJ2]) and synthetic ligands (thiazolidinediones, tyrosine agonists), we observed that synthetic agonists selectively rescue function of some peroxisome proliferator-activated receptor-γ (PPARγ) mutants. We report on patients with FPLD3 who harbor two such PPARγ mutations (R308P and A261E). Both PPARγ mutants exhibit negligible constitutive or PGJ2-induced transcriptional activity but respond readily to synthetic agonists in vitro, with structural modeling providing a basis for such differential ligand-dependent responsiveness. Concordant with this finding, dramatic clinical improvement was seen after pioglitazone treatment of a patient with R308P mutant PPARγ. A patient with A261E mutant PPARγ also responded beneficially to rosiglitazone, although cardiomyopathy precluded prolonged thiazolidinedione use. These observations indicate that detailed structural and functional classification can be used to inform therapeutic decisions in patients with PPARG mutations.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Diabetes. - 67 : 6 (2018), p. 1086-1092. -
További szerzők:	Schoenmakers, Erik Beig, Junaid Fairall, Louise Szatmári István (1971-) (biológus) Rajanayagam, Odelia Muskett, Frederick W. Adams, Claire Marais, A. David O'Rahilly, Stephen Semple, Robert K. Nagy László (1966-) (molekuláris sejtbiológus, biokémikus) Majithia, Amit R. Schwabe, John W. R. Blom, Dirk J. Murphy, Rinki Chatterjee, Krishna Savage, David B.
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM061856
Első szerző:	Török Zsolt (orvos)
Cím:	Combined Methods for Diabetic Retinopathy Screening, Using Retina Photographs and Tear Fluid Proteomics Biomarkers / Torok Zsolt, Peto Tunde, Csosz Eva, Tukacs Edit, Molnar Agnes M., Berta Andras, Tozser Jozsef, Hajdu Andras, Nagy Valeria, Domokos Balint, Csutak Adrienne
Dátum:	2015
ISSN:	2314-6745 2314-6753
Megjegyzések:	Background. It is estimated that 347 million people suffer from diabetes mellitus (DM), and almost 5 million are blind due to diabetic retinopathy (DR). The progression of DR can be slowed down with early diagnosis and treatment. Therefore our aim was to develop a novel automated method for DR screening. Methods. 52 patients with diabetes mellitus were enrolled into the project. Of all patients, 39 had signs of DR. Digital retina images and tear fluid samples were taken from each eye. The results from the tear fluid proteomics analysis and from digital microaneurysm (MA) detection on fundus images were used as the input of a machine learning system. Results. MA detection method alone resulted in 0.84 sensitivity and 0.81 specificity. Using the proteomics data for analysis 0.87 sensitivity and 0.68 specificity values were achieved. The combined data analysis integrated the features of the proteomics data along with the number of detected MAs in the associated image and achieved sensitivity/specificity values of 0.93/0.78. Conclusions. As the two different types of data represent independent and complementary information on the outcome, the combined model resulted in a reliable screening method that is comparable to the requirements of DR screening programs applied in clinical routine.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Diabetic Retinopathy Retina Photographs Tear Fluid Proteomics Jövő Internet Kutatáskoordinációs Központ
Megjelenés:	Journal of Diabetes Research. - 2015 (2015), p. 1-8. -
További szerzők:	Pető Tünde (1970-) (orvos, szemész) Csősz Éva (1977-) (biokémikus, molekuláris biológus) Tukacs Edit Molnár Ágnes (1978-) (egészségpolitikus) Berta András (1955-) (szemész, gyermekszemész) Tőzsér József (1959-) (molekuláris biológus, biokémikus, vegyész) Hajdu András (1973-) (matematikus, informatikus) Nagy Valéria (1962-) (szemész) Domokos Bálint (1974-) (programtervező matematikus) Csutak Adrienne (1971-) (szemész)
Pályázati támogatás:	NK101680 OTKA TÁMOP-4.2.2.A-11/1/KONV-2012-0045 TÁMOP Proteomika, Szemészet Kutatócsoport TÁMOP-4.2.2.C-11/1/KONV-2012-0001 TÁMOP
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