Number of the records: 1
Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU
Title Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU Author Ascher David Co-authors Spiga Ottavia Sekelská Martina SAVBIOMED - Biomedicínske centrum SAV Pires Douglas E.V. Bernini Andrea Tiezzi Monica Královičová Jana 1972- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV SCOPUS RID Borovská Ivana 1993- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ORCID Šoltýsová Andrea 1980- SAVBIOMED - Biomedicínske centrum SAV Olsson Birgitta Galderisi Silvia Cicaloni Vittoria Ranganath Lakshminarayan R. Santucci Annalisa Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV SCOPUS RID ORCID Source document European Journal of Human Genetics. Vol. 27, no. 6 (2019), p. 888-902 Language eng - English Country GB - Great Britian Document kind rozpis článkov z periodík (rbx) Citations HUGHES, Juliette H. - LIU, Ke - PLAGGE, Antonius - WILSON, Peter J. M. - SUTHERLAND, Hazel - NORMAN, Brendan P. - HUGHES, Andrew T. - KEENAN, Craig M. - MILAN, Anna M. - SAKAI, Takao - RANGANATH, Lakshminarayan R. - GALLAGHER, James A. - BOU-GHARIOS, George. Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria. In HUMAN MOLECULAR GENETICS. ISSN 0964-6906, 2019, vol. 28, no. 23, pp. 3928-3939. KISA, P.T. - GUNDUZ, M. - DORUM, S. - UZUN, O.U. - CAKAR, N.E. - YILDIRIM, G.K. - ERDOL, S. - HISMI, B.O. - TUGSAL, H.Y. - UCAR, U. - GORUKMEZ, O. - GULTEN, Z.A. - KUCUKCONGAR, A. - BULBUL, S. - SARI, I. - ARSLAN, N. Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients. In EUROPEAN JOURNAL OF MEDICAL GENETICS. ISSN 1769-7212, MAY 2021, vol. 64, no. 5. BYCHKOV, I. - KAMENETS, E. - KURKINA, M. - RYCHKOV, G. - ILYUSHKINA, A. - FILATOVA, A. - GUSEVA, D. - BAYDAKOVA, G. - NEKRASOV, A. - CHEBLOKOV, A. - SKOBLOV, M. - ZAKHAROVA, E. Alkaptonuria in Russia: mutational spectrum and novel variants. In EUROPEAN JOURNAL OF MEDICAL GENETICS. ISSN 1769-7212, APR 2021, vol. 64, no. 4. KHALIL, R. - ALI, D. - MWAFI, N. - ALSARAIREH, A. - OBEIDAT, L. - ALBSOUL, E. - AL SBOU, I. Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan. In BIOMED RESEARCH INTERNATIONAL. ISSN 2314-6133, MAR 11 2021, vol. 2021. CHU, P. - CUELLAR, M.C. - BRACKEN, S.J. - TARRANT, T.K. A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature. In CURRENT ALLERGY AND ASTHMA REPORTS. ISSN 1529-7322, MAR 5 2021, vol. 21, no. 3. MWAFI, N.R. - ALI, D.A. - KHALIL, R.W. - ALSBOU', I.N. - SARAIREH, A.M. Novel R225C variant identified in the HGD gene in Jordanian patients with alkaptonuria. In AIMS MOLECULAR SCIENCE. ISSN 2372-0301, 2021, vol. 8, no. 1, p. 60-75. LAI, Chien-Yi - TSAI, I-Jung - CHIU, Pao-Chin - ASCHER, David B. - CHIEN, Yin-Hsiu - HUANG, Yu-Hsuan - LIN, Yi-Lin - HWU, Wuh-Liang - LEE, Ni-Chung. A novel deep intronic variant strongly associates with Alkaptonuria. In NPJ GENOMIC MEDICINE, 2021, vol. 6, no. 1, pp. Dostupné na: https://doi.org/10.1038/s41525-021-00252-2. RICHTER, Patricia - CARDONEANU, Anca - MACOVEI, Luana Andreea - BURLUI, Alexandra Maria - REZUS, Elena. Ochronosis – a rare metabolic disease. In Romanian Journal of Rheumatology, 2021-01-01, 30, 4, pp. 163-168. ISSN 18430791. Dostupné na: https://doi.org/10.37897/RJR.2021.4.6. MAHDKHAH, A. - SALEHPOUR, F. - LOTFINIA, I. - RIAZI, A. - MIRZAEE, F. - KALEIBAR, S.A. Asymptomatic alkaptonuria and degenerative disc herniation report of two rare cases. In INTERDISCIPLINARY NEUROSURGERY-ADVANCED TECHNIQUES AND CASE MANAGEMENT. JUN 2022, vol. 28. Dostupné na: https://doi.org/10.1016/j.inat.2021.101471. WANG, J.Y. - CHANG, H.K. - SU, M. - QIAO, Y.Y. - SUN, H.R. - ZHAO, Y.S. - ZHANG, S. - SHAN, C.L. Identification of HGD and GSTZ1 as Biomarkers Involved Metabolic Reprogramming in Kidney Renal Clear Cell Carcinoma. In INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. MAY 2022, vol. 23, no. 9. Dostupné na: https://doi.org/10.3390/ijms23094583. TAO, L.Y. - DENG, C.J. - MA, M.B. - ZHANG, Y. - DUAN, J.T. - LI, Y. - FANG, L. - ZHOU, Y.T. - HE, X.L. - WANG, Y. - WANG, M.Y. - LI, L. A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria. In CLINICA CHIMICA ACTA. ISSN 0009-8981, JUL 1 2022, vol. 532, p. 164-171. Dostupné na: https://doi.org/10.1016/j.cca.2022.04.998. LEQUEUE, S. - NEUCKERMANS, J. - NULMANS, I. - SCHWANEBERG, U. - VANHAECKE, T. - DE KOCK, J. A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria. In SCIENTIFIC REPORTS. ISSN 2045-2322, NOV 14 2022, vol. 12, no. 1. Dostupné na: https://doi.org/10.1038/s41598-022-23702-y. EBRAHIM, I.C. - HOANG, T.D. - VIETOR, N.O. - SCHACHT, J.P. - SHAKIR, M.K.M. Dilemmas in the diagnosis and management of osteoporosis in a patient with alkaptonuria: Successful treatment with teriparatide. In CLINICAL CASE REPORTS. ISSN 2050-0904, DEC 2022, vol. 10, no. 12. Dostupné na: https://doi.org/10.1002/ccr3.6729. DAVISON, A.S. - NORMAN, B.P. Alkaptonuria - Past, present and future. In ADVANCES IN CLINICAL CHEMISTRY, VOL. 114. ISSN 0065-2423, 2023, vol. 114, p. 47-81. Dostupné na: https://doi.org/10.1016/bs.acc.2023.02.005. ABDOLLAHI, S. - IZADI, P. - AZIZI-TABESH, G. Bioinformatics Analysis Reveals Novel Differentially Expressed Genes Between Ectopic and Eutopic Endometrium in Women with Endometriosis. In JOURNAL OF OBSTETRICS AND GYNECOLOGY OF INDIA. ISSN 0971-9202, OCT 2023, vol. 73, no. SUPPL 1, SI, p. 115-123. Dostupné na: https://doi.org/10.1007/s13224-023-01749-9. ABDELKHALEK, Z.S. - MAHMOUD, I.G. - OMAIR, H. - ABDULHAY, M. - ELMONEM, M.A. Homogentisate 1,2-dioxygenase (iHGD/i) gene variants in young Egyptian patients with alkaptonuria. In SCIENTIFIC REPORTS. ISSN 2045-2322, SEP 1 2023, vol. 13, no. 1. Dostupné na: https://doi.org/10.1038/s41598-023-41200-7. LARES-VILLASEñOR, E. - GUEVARA-CRUZ, M. - SALAZAR-GARCíA, S. - GRANADOS-PORTILLO, O. - VEGA-CáRDENAS, M. - MARTINEZ-LEIJA, M.E. - MEDINA-VERA, I. - GONZáLEZ-SALAZAR, L.E. - ARTEAGA-SANCHEZ, L. - GUíZAR-HEREDIA, R. - HERNáNDEZ-GóMEZ, K.G. - SERRALDE-ZúñIGA, A.E. - PICHARDO-ONTIVEROS, E. - LóPEZ-BARRADAS, A.M. - GUEVARA-PEDRAZA, L. - ORDAZ-NAVA, G. - AVILA-NAVA, A. - TOVAR, A.R. - COSSíO-TORRES, P.E. - DE LA CRUZ-MOSSO, U. - ARADILLAS-GARCíA, C. - PORTALES-PéREZ, D.P. - NORIEGA, L.G. - VARGAS-MORALES, J.M. Genetic risk score for insulin resistance based on gene variants associated to amino acid metabolism in young adults. In PLOS ONE. ISSN 1932-6203, FEB 29 2024, vol. 19, no. 2. Dostupné na: https://doi.org/10.1371/journal.pone.0299543. Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2019 Registered in WOS Registered in SCOPUS Registered in CCC DOI 10.1038/s41431-019-0354-0 
article
File name Access Size Downloaded Type License Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.pdf Neprístupný/archív 2 MB 0 Publisher's version rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2019 2018 3.650 Q2 1.835 Q1
Number of the records: 1