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Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on black bone disease in Italy
Názov Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on black bone disease in Italy Autor Némethová Martina 1986- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Spoluautori Radvánszky Ján 1982- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Kádaši Ľudevít 1952- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ORCID Ascher David Pires Douglas E.V. Blundell T.L. Porfirio Berardino Mannoni Alesandro Santucci Annalisa Milucci Lia Sestini Silvia Biolcati Gianfranco Sorge Fiammetta Aurizi Caterina Aquaron R. Alsbou Mohammed S. Marques Lourenco C. Ramadevi Kanakasabapathi Ranganath Lakshminarayan R. Gallagher James A. Kan Christa van Hall Anthony K. Olsson Birgitta Sireau Nicholas Ayoob Hana Timmis Oliver G. Le Quan Sang Kim - Hanh Genovese Federica Imrich Richard ORCID Rovenský Jozef Srinivasaraghavan Rangan Bharadwaj Shruthi K. Zaťková Andrea 1971- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV SCOPUS RID ORCID Zdroj.dok. European Journal of Human Genetics. Vol. 24, no. 1 (2016), p. 66-72 Jazyk dok. eng - angličtina Poznámky ITMS 26240220071, VEGA 2/0027/12, GNT1072476 Druh dok. rozpis článkov z periodík (rbx) Ohlasy AKTUGLU-ZEYBEK, A. Cigdem - ZUBARIOGLU, Tanyel. Nitisinone: A review. In Orphan Drugs: Research and Reviews, 2017-01-31, 7, pp. 25-35. TAYLOR, Adam M. - KAMMATH, Vishnu - BLEAKLEY, Aaron. Tyrosinase, could it be a missing link in ochronosis in alkaptonuria? In MEDICAL HYPOTHESES. ISSN 0306-9877, 2016, vol. 91, no., pp. 77-80. NOORIAN, Shahab - BANADAKI, Bahareh Dehghan - SOTOUDEH, Arya - SAVAD, Shahram - MODARRESSI, Mohammad Hossein. A novel missense mutation of the HGD gene causes Alkaptonuria. In META GENE. ISSN 2214-5400, 2018, vol. 18, no., pp. 174-176. YANG, Wenjun - RUAN, Lifang - TAO, Jiangming - PENG, Donghai - ZHENG, Jinshui - SUN, Ming. Single Amino Acid Substitution in Homogentisate Dioxygenase Affects Melanin Production in Bacillus thuringiensis. In FRONTIERS IN MICROBIOLOGY. 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Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan. In BIOMED RESEARCH INTERNATIONAL. ISSN 2314-6133, 2021, vol. 2021, no., pp. Dostupné na: https://doi.org/10.1155/2021/1515641. MWAFI, Nesrin R. - ALI, Dema A. - KHALIL, Raida W. - ALSBOU', Ibrahim N. - SARAIREH, Ahmad 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, pp. 60-75. Dostupné na: https://doi.org/10.3934/molsci.2021005. 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. SUN, Tingting - CHEN, Yuting - WEN, Yuhao - ZHU, Zefeng - LI, Minghui. PremPLI: a machine learning model for predicting the effects of missense mutations on protein-ligand interactions. In COMMUNICATIONS BIOLOGY, 2021, vol. 4, no. 1, pp. Dostupné na: https://doi.org/10.1038/s42003-021-02826-3. TAO, Lvyan - DENG, Chengjun - MA, Mingbiao - ZHANG, Yu - DUAN, Jintao - LI, Ying - FANG, Li - ZHOU, Yuantao - HE, Xiaoli - WANG, Yan - WANG, Mingying - LI, Li. A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria. In CLINICA CHIMICA ACTA, 2022, vol. 532, no., pp. 164-171. ISSN 0009-8981. 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. DENISOVA EKATERINA, V. - KUZIN АLEXANDR, V. Ophthalmological Manifestations of Alkaptonuria. In Oftalmologiya, 2022-03-01, 19, 1, pp. 118-122. ISSN 18165095. Dostupné na: https://doi.org/10.18008/1816-5095-2022-1-118-122. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2016 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1038/ejhg.2015.60 
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Názov súboru Prístup Veľkosť Stiahnuté Typ Licence Twelve novel HGD gene variants identified in 99 alkaptonuria patients focus on 'black bone disease' in Italy.pdf Neprístupný/archív 556.2 KB 2 Vydavateľská verzia 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) 2016 2015 4.580 Q1 2.168 Q1
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