Počet záznamov: 1
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 SCOPUS RID 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. 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. Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India. In CLINICAL RHEUMATOLOGY. ISSN 0770-3198, 2020, vol. 39, no. 9, pp. 2743-2749. Dostupné na: https://doi.org/10.1007/s10067-020-05020-8. CHEN, Xu-Tao - CHEN, Wen-Fang - HOU, Xiao-Tao - YANG, Shi-Cong - YANG, Hui-Fei - LI, Jun - DENG, Rong-Hai - HUANG, Yang - NUERTAI, Yelidana - WANG, Chang-Xi - QIU, Jiang - HUANG, Gang. Non-invasive urinary sediment double-immunostaining predicts BK polyomavirus associated-nephropathy in kidney transplant recipients. In ANNALS OF TRANSLATIONAL MEDICINE. ISSN 2305-5839, 2020, vol. 8, no. 5, pp. Dostupné na: https://doi.org/10.21037/atm.2020.01.15. GERASIMAVICIUS, Lukas - LIU, Xin - MARSH, Joseph A. Identification of pathogenic missense mutations using protein stability predictors. In SCIENTIFIC REPORTS. 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. 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 
článok
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
Počet záznamov: 1