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Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on black bone disease in Italy
Title Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on black bone disease in Italy Author Némethová Martina 1986- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Co-authors 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 SCOPUS RID ORCID Rovenský Jozef Srinivasaraghavan Rangan Bharadwaj Shruthi K. Zaťková Andrea 1971- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV SCOPUS RID ORCID Source document European Journal of Human Genetics. Vol. 24, no. 1 (2016), p. 66-72 Language eng - English Note ITMS 26240220071, VEGA 2/0027/12, GNT1072476 Document kind rozpis článkov z periodík (rbx) Citations 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. ISSN 1664-302X, 2018, vol. 9, no., pp. KILAVUZ, Sebile - BULUT, Fatma Derya - KOR, Deniz - YILMAZ, Berna Seker - BASARAN, Sibel - SARPEL, Tunay - MUNGAN, Neslihan Onenli. Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience. In JOURNAL OF PEDIATRIC RESEARCH. ISSN 2147-9445, 2018, vol. 5, no. 1, pp. 7-11. BRUNETTI, Giacomina - TUMMOLO, Albina - D'AMATO, Gabriele - GAETA, Alberto - ORTOLANI, Federica - PIACENTE, Laura - GIORDANO, Paola - COLUCCI, Silvia - GRANO, Maria - PAPADIA, Francesco - FAIENZA, Maria F. Mechanisms of Enhanced Osteoclastogenesis in Alkaptonuria. In AMERICAN JOURNAL OF PATHOLOGY. ISSN 0002-9440, 2018, vol. 188, no. 4, pp. 1059-1068. YU, Xiaqing - ZHONG, Peng - HAN, Yali - HUANG, Qingqing - WANG, Jian - JIA, Chengyou - LV, Zhongwei. Key candidate genes associated with BRAF(V600E) in papillary thyroid carcinoma on microarray analysis. In JOURNAL OF CELLULAR PHYSIOLOGY. ISSN 0021-9541, 2019, vol. 234, no. 12, pp. 23369-23378. WU, Katherine - BAUER, Erin - MYUNG, Gihyun - FANG, Meika A. Musculoskeletal manifestations of alkaptonuria: A case report and literature review. In EUROPEAN JOURNAL OF RHEUMATOLOGY. ISSN 2147-9720, 2019, vol. 6, no. 2, pp. 98-101. AKBABA, Alper Ilker - OZGUL, Riza Koksal - DURSUN, Ali. Presentation of 14 alkaptonuria patients from Turkey. In JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. ISSN 0334-018X, 2020, vol. 33, no. 2, pp. 289-294. Dostupné na: https://doi.org/10.1515/jpem-2019-0163. DANDA, Sumita - MOHAN, Sony - DEVARAJ, Prabavathi - DUTTA, Atanu K. - NAMPOOTHIRI, Sheela - YESODHARAN, Dhanya - PHADKE, Shubha R. - JALAN, Anil B. - THANGARAJ, K. - VERMA, Ishwar Chandra - DANDA, Debashish - JEBARAJ, Isaac. 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ISSN 2045-2322, 2020, vol. 10, no. 1, pp. Dostupné na: https://doi.org/10.1038/s41598-020-72404-w. WEAKO, Jackson - GURSOY, Attila - KESKIN, Ozlem. Mutational effects on protein-protein interactions. In Protein Interactions: Computational Methods, Analysis And Applications, 2020-01-01, pp. 109-143. Dostupné na: https://doi.org/10.1142/9789811211874_0005. SANGEETHA, Geminiganesan - CHANDRAN, Senthil - GANESAN, Swathi - JAYARAJ, Jaippreetha. Alkaptonuria in an adolescent boy. In BMJ CASE REPORTS, 2021, vol. 14, no. 2, pp. Dostupné na: https://doi.org/10.1136/bcr-2020-240147. BYCHKOV, Igor - KAMENETS, Elena - KURKINA, Marina - RYCHKOV, Georgiy - ILYUSHKINA, Alexandra - FILATOVA, Aleksandra - GUSEVA, Darya - BAYDAKOVA, Galina - NEKRASOV, Andrey - CHEBLOKOV, Aleksandr - SKOBLOV, Mikhail - ZAKHAROVA, Ekaterina. Alkaptonuria in Russia: mutational spectrum and novel variants. In EUROPEAN JOURNAL OF MEDICAL GENETICS. ISSN 1769-7212, 2021, vol. 64, no. 4, pp. Dostupné na: https://doi.org/10.1016/j.ejmg.2021.104165. KHALIL, Raida - ALI, Dema - MWAFI, Nesrin - ALSARAIREH, Arwa - OBEIDAT, Loiy - ALBSOUL, Eman - AL SBOU, Ibrahim. 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. 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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. 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 2016 Registered in WOS Registered in SCOPUS Registered in CCC DOI 10.1038/ejhg.2015.60 
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File name Access Size Downloaded Type License Twelve novel HGD gene variants identified in 99 alkaptonuria patients focus on 'black bone disease' in Italy.pdf Neprístupný/archív 556.2 KB 2 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) 2016 2015 4.580 Q1 2.168 Q1
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