Artykuły w czasopismach na temat „Missense mutation”
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Captur, Gabriella, Eloisa Arbustini, Petros Syrris, Dina Radenkovic, Ben O'Brien, William J. Mckenna i James C. Moon. "Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature". Open Heart 5, nr 2 (październik 2018): e000915. http://dx.doi.org/10.1136/openhrt-2018-000915.
Pełny tekst źródłaZhang, Edward D., Meixia Zhang, Gen Li, Charlotte L. Zhang, Zhihuan Li, Guangxi Zang, Zhiguang Su i in. "Mutation spectrum in GNAQ and GNA11 in Chinese uveal melanoma". Precision Clinical Medicine 2, nr 4 (13.11.2019): 213–20. http://dx.doi.org/10.1093/pcmedi/pbz021.
Pełny tekst źródłaGábos, Gabriella, Dumitru Moldovan, Daniela Dobru, Enikő Mihály, Noémi Bara, Valentin Nădășan, Adina Hutanu i Katalin Csép. "Mutational spectrum and genotype-phenotype relationships in a cohort of Romanian hereditary angioedema patients caused by C1 inhibitor deficiency". Revista Romana de Medicina de Laborator 27, nr 3 (1.07.2019): 255–67. http://dx.doi.org/10.2478/rrlm-2019-0029.
Pełny tekst źródłaKim, Soo-Hyun, Soo Young Choi, Sung-Eun Lee, Yun Jeong Oh, Jin-Eok Park, Hae Lyun Yoo, Hye-Rim Jeon, Eun-Jung Jang i Dong-Wook Kim. "Kinetics Of Low-Level Mutant Clones Detected By Subcloning and Sequencing In Tyrosine Kinase Inhibitor Resistant CML". Blood 122, nr 21 (15.11.2013): 2720. http://dx.doi.org/10.1182/blood.v122.21.2720.2720.
Pełny tekst źródłaNguyen, Thi Kim Lien, Van Dem Pham, Thu Huong Nguyen, Trung Kien Pham, Thi Quynh Huong Nguyen i Huy Hoang Nguyen. "Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome". Case Reports in Genetics 2017 (2017): 1–7. http://dx.doi.org/10.1155/2017/2357282.
Pełny tekst źródłaVierimaa, O., T. M. L. Ebeling, S. Kytölä, R. Bloigu, E. Eloranta, J. Salmi, E. Korpi-Hyövälti i in. "Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype–phenotype correlation". European Journal of Endocrinology 157, nr 3 (wrzesień 2007): 285–94. http://dx.doi.org/10.1530/eje-07-0195.
Pełny tekst źródłaMusumeci, Antonino, Francesco Calì, Carmela Scuderi, Mirella Vinci, Girolamo Aurelio Vitello, Sebastiano Antonino Musumeci, Valeria Chiavetta i in. "Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy". Biomedicines 10, nr 9 (14.09.2022): 2276. http://dx.doi.org/10.3390/biomedicines10092276.
Pełny tekst źródłaProphet, Malshundria, Kun Xiao, Theodore Stewart Gourdin, Rebecca J. Nagy, Lesli Ann Kiedrowski, Elisa Ledet, Guru Sonpavde, A. Oliver Sartor i Michael B. Lilly. "Detection of actionable BRAF missense mutations by ctDNA-based genomic analysis in prostate cancer." Journal of Clinical Oncology 36, nr 6_suppl (20.02.2018): 306. http://dx.doi.org/10.1200/jco.2018.36.6_suppl.306.
Pełny tekst źródłaDavies, Faith C. J., Jilly E. Hope, Fiona McLachlan, Grant F. Marshall, Laura Kaminioti-Dumont, Vesa Qarkaxhija, Francis Nunez i in. "Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function". Human Molecular Genetics 29, nr 10 (11.03.2020): 1592–606. http://dx.doi.org/10.1093/hmg/ddaa042.
Pełny tekst źródłaZabransky, Daniel J., Christopher L. Yankaskas, Rory L. Cochran, Hong Yuen Wong, Sarah Croessmann, David Chu, Shyam M. Kavuri i in. "HER2 missense mutations have distinct effects on oncogenic signaling and migration". Proceedings of the National Academy of Sciences 112, nr 45 (27.10.2015): E6205—E6214. http://dx.doi.org/10.1073/pnas.1516853112.
Pełny tekst źródłaZhang, Zhe, Maria A. Miteva, Lin Wang i Emil Alexov. "Analyzing Effects of Naturally Occurring Missense Mutations". Computational and Mathematical Methods in Medicine 2012 (2012): 1–15. http://dx.doi.org/10.1155/2012/805827.
Pełny tekst źródłaÖZDEMİR, Mustafa, Şerif HAMİTOĞLU, Ferda ÖZLÜ, Hacer YAPICIOĞLU, Gülen GÜL MERT i Mehmet SATAR. "The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome". Cukurova Medical Journal 47, nr 4 (28.12.2022): 1780–83. http://dx.doi.org/10.17826/cumj.1170135.
Pełny tekst źródłaHagiwara, Takeshi, Hiroshi Inaba, Shinichi Yoshida, Keiko Nagaizumi, Morio Arai, Hideji Hanabusa i Katsuyuki Fukutake. "A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease". Thrombosis and Haemostasis 76, nr 02 (1996): 253–57. http://dx.doi.org/10.1055/s-0038-1650564.
Pełny tekst źródłaShih, Lee-Yung, Der-Cherng Liang, Chein-Fuang Huang, Ming-Chung Kuo, Tung-Liang Lin, Jen-Fen Fu, Yu-Shu Shih i in. "Different Patterns of AML1 Mutations between De Novo Myelodysplastic Syndrome and Chronic Myelomonocytic Leukemia." Blood 110, nr 11 (16.11.2007): 2442. http://dx.doi.org/10.1182/blood.v110.11.2442.2442.
Pełny tekst źródłaLeventer, Richard J., Carlos Cardoso, David H. Ledbetter i William B. Dobyns. "LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ". Neurology 57, nr 3 (14.08.2001): 416–22. http://dx.doi.org/10.1212/wnl.57.3.416.
Pełny tekst źródłaKapoor, Ritika R., Sarah E. Flanagan, Piers Fulton, Anupam Chakrapani, Bernadette Chadefaux, Tawfeg Ben-Omran, Indraneel Banerjee, Julian P. Shield, Sian Ellard i Khalid Hussain. "Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations". European Journal of Endocrinology 161, nr 5 (listopad 2009): 731–35. http://dx.doi.org/10.1530/eje-09-0615.
Pełny tekst źródłaGao, Shujuan, Min Lin, Yan Jin, Zhuona Wang, Yunqing Zhu, Guisheng Liu i Xueyan Guo. "Three Novel Mutations of APC Gene Found in A Chinese Family with Familial Adenomatous Polyposis". Journal of Clinical and Nursing Research 6, nr 3 (30.05.2022): 174–80. http://dx.doi.org/10.26689/jcnr.v6i3.3893.
Pełny tekst źródłaAbuzenadah, Adel, Ashley Cartwright, Nawal Al-Shammari, Rachael Coyle, Michaela Eckert, Ahlam Al-Buhairan, Sarah Messenger i in. "Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort". Thrombosis and Haemostasis 110, nr 08 (2013): 264–74. http://dx.doi.org/10.1160/th13-02-0135.
Pełny tekst źródłaRae, Julie, Deborah Noack, Paul G. Heyworth, Beverly A. Ellis, John T. Curnutte i Andrew R. Cross. "Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22phox". Blood 96, nr 3 (1.08.2000): 1106–12. http://dx.doi.org/10.1182/blood.v96.3.1106.015k44_1106_1112.
Pełny tekst źródłaUyanik, G., N. Elcioglu, J. Penzien, C. Gross, Y. Yilmaz, A. Olmez, E. Demir i in. "Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome". Neurology 66, nr 7 (10.04.2006): 1044–48. http://dx.doi.org/10.1212/01.wnl.0000204181.31175.8b.
Pełny tekst źródłaPhillips, John D., Tiffany L. Parker, Heidi L. Schubert, Frank G. Whitby, Christopher P. Hill i James P. Kushner. "Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase". Blood 98, nr 12 (1.12.2001): 3179–85. http://dx.doi.org/10.1182/blood.v98.12.3179.
Pełny tekst źródłaGuo, Zhiping, Linhua Yang, Xiuyu Qin, Xiue Liu i Yaofang Zhang. "Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations". Clinical and Applied Thrombosis/Hemostasis 24, nr 1 (5.01.2017): 70–78. http://dx.doi.org/10.1177/1076029616687848.
Pełny tekst źródłaHawthorne, Valerie Stone, i Dihua Yu. "PI3K: Missense mutation motivates malignancy". Cancer Biology & Therapy 3, nr 8 (sierpień 2004): 776–77. http://dx.doi.org/10.4161/cbt.3.8.1031.
Pełny tekst źródłaLee, Jae-Bong, Chae-Kyoung Yoo, Eun-Ji Jung, Jung-Hye Hwang, Bo-Young Seo, Byeong-Woo Kim, Hyun-Tae Lim, Jung-Gyu Lee, In-Cheol Cho i Hee-Bok Park. "A missense mutation (c.1963A". Molecular Biology Reports 39, nr 10 (5.07.2012): 9291–97. http://dx.doi.org/10.1007/s11033-012-1679-8.
Pełny tekst źródłaNakae, Jun, Shuji Abe, Toshihiro Tajima, Nozomi Shinohara, Mari Murashita, Yutaka Igarashi, Satoshi Kusuda, Junzou Suzuki i Kenji Fujieda. "Three Novel Mutations and a De Novo Deletion Mutation of the DAX-1 Gene in Patients with X-Linked Adrenal Hypoplasia Congenita". Journal of Clinical Endocrinology & Metabolism 82, nr 11 (1.11.1997): 3835–41. http://dx.doi.org/10.1210/jcem.82.11.4342.
Pełny tekst źródłaFadiga, Lúcia, Mariana Lavrador, Nuno Vicente, Luísa Barros, Catarina I. Gonçalves, Asma Al-Naama, Luis R. Saraiva i Manuel C. Lemos. "A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism". International Journal of Molecular Sciences 23, nr 8 (17.04.2022): 4423. http://dx.doi.org/10.3390/ijms23084423.
Pełny tekst źródłaMustafa, S., I. Pabinger i C. Mannhalter. "Protein S deficiency type I: identification of point mutations in 9 of 10 families". Blood 86, nr 9 (1.11.1995): 3444–51. http://dx.doi.org/10.1182/blood.v86.9.3444.bloodjournal8693444.
Pełny tekst źródłaIvaskevicius, Vytautas, Arijit Biswas, Anne Thomas, Ramin Tehranchi i Johannes Oldenburg. "Genetic Background in Patients with Severe Factor XIII A-Subunit Deficiency Treated with Recombinant FXIII". Blood 120, nr 21 (16.11.2012): 1125. http://dx.doi.org/10.1182/blood.v120.21.1125.1125.
Pełny tekst źródłaRae, Julie, Deborah Noack, Paul G. Heyworth, Beverly A. Ellis, John T. Curnutte i Andrew R. Cross. "Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22phox". Blood 96, nr 3 (1.08.2000): 1106–12. http://dx.doi.org/10.1182/blood.v96.3.1106.
Pełny tekst źródłaOzdemir, D., P. S. Hart, O. H. Ryu, S. J. Choi, M. Ozdemir-Karatas, E. Firatli, N. Piesco i T. C. Hart. "MMP20 Active-site Mutation in Hypomaturation Amelogenesis Imperfecta". Journal of Dental Research 84, nr 11 (listopad 2005): 1031–35. http://dx.doi.org/10.1177/154405910508401112.
Pełny tekst źródłaChen, Chia-Hsiang, Yu-Shu Huang, Ding-Lieh Liao, Cheng-Yi Huang, Chia-Heng Lin i Ting-Hsuan Fang. "Identification of Rare Mutations of Two Presynaptic Cytomatrix Genes BSN and PCLO in Schizophrenia and Bipolar Disorder". Journal of Personalized Medicine 11, nr 11 (21.10.2021): 1057. http://dx.doi.org/10.3390/jpm11111057.
Pełny tekst źródłaScore, Joannah, Claire Hidalgo-Curtis, Amy V. Jones, Nils Winkelmann, Alison Skinner, Daniel Ward, Katerina Zoi i in. "Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms". Blood 119, nr 5 (2.02.2012): 1208–13. http://dx.doi.org/10.1182/blood-2011-07-367243.
Pełny tekst źródłaCai, Bi-He, Yun-Chien Hsu, Fang-Yu Yeh, Yu-Rou Lin, Rui-Yu Lu, Si-Jie Yu, Jei-Fu Shaw i in. "P63 and P73 Activation in Cancers with p53 Mutation". Biomedicines 10, nr 7 (23.06.2022): 1490. http://dx.doi.org/10.3390/biomedicines10071490.
Pełny tekst źródłaMenke, Leonie A., Marc Engelen, Mariel Alders, Vincent J. J. Odekerken, Frank Baas i Jan M. Cobben. "Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder". Journal of Child Neurology 31, nr 14 (29.09.2016): 1598–601. http://dx.doi.org/10.1177/0883073816666474.
Pełny tekst źródłaSun, Chong, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang i in. "Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes". Neurology Genetics 5, nr 2 (kwiecień 2019): e565. http://dx.doi.org/10.1212/nxg.0000000000000316.
Pełny tekst źródłaMiller, Amber, Laura Cattaneo, Yan W. Asmann, Esteban Braggio, Jonathan J. Keats, Daniel Auclair, Sagar Lonial, The MMRF CoMMpass Network, Stephen J. Russell i A. Keith Stewart. "Correlation Between Somatic Mutation Burden, Neoantigen Load and Progression Free Survival in Multiple Myeloma: Analysis of MMRF CoMMpass Study". Blood 128, nr 22 (2.12.2016): 193. http://dx.doi.org/10.1182/blood.v128.22.193.193.
Pełny tekst źródłaHuang, Hao, Dong-Bo Ding, Liang-Liang Fan, Jie-Yuan Jin, Jing-Jing Li, Shuai Guo, Ya-qin Chen i Rong Xiang. "Whole-exome sequencing identifies a Novel SCN5A mutation (C335R) in a Chinese family with arrhythmia". Cardiology in the Young 28, nr 5 (6.02.2018): 688–91. http://dx.doi.org/10.1017/s1047951117002980.
Pełny tekst źródłaGąsior-Perczak, Danuta, Artur Kowalik, Krzysztof Gruszczyński, Agnieszka Walczyk, Monika Siołek, Iwona Pałyga, Sławomir Trepka i in. "Incidence of the CHEK2 Germline Mutation and Its Impact on Clinicopathological Features, Treatment Responses, and Disease Course in Patients with Papillary Thyroid Carcinoma". Cancers 13, nr 3 (26.01.2021): 470. http://dx.doi.org/10.3390/cancers13030470.
Pełny tekst źródłaMONKAWA, TOSHIAKI, ISAO KURIHARA, KAZUO KOBAYASHI, MATSUHIKO HAYASHI i TAKAO SARUTA. "Novel Mutations in Thiazide-Sensitive Na-Cl Cotransporter Gene of Patients with Gitelman's Syndrome". Journal of the American Society of Nephrology 11, nr 1 (styczeń 2000): 65–70. http://dx.doi.org/10.1681/asn.v11165.
Pełny tekst źródłaCron, Randy Q., Mingce Zhang, Remy R. Cron, Devin Absher, John M. Bridges, Amanda Schnell, Pavan K. Bhatraju i in. "DOCK8 mutations in COVID-19 and MIS-C Cytokine Storm Syndrome". Journal of Immunology 206, nr 1_Supplement (1.05.2021): 62.04. http://dx.doi.org/10.4049/jimmunol.206.supp.62.04.
Pełny tekst źródłaDai, Letian, John Clarke, Paula Bolton-Maggs, Geoffrey Savidge, Anwar Alhaq i Michael Mitchell. "Characterisation of five factor XI mutations". Thrombosis and Haemostasis 97, nr 06 (2007): 884–89. http://dx.doi.org/10.1160/th06-12-0704.
Pełny tekst źródłaChen, JinLan, BuYun Li, YiFeng Yang, JianGuo Hu, TianLi Zhao, YiBo Gong i ZhiPing Tan. "Mutations of the TGFBR2 gene in Chinese patients with Marfan-related syndrome". Clinical & Investigative Medicine 33, nr 1 (1.02.2010): 14. http://dx.doi.org/10.25011/cim.v33i1.11833.
Pełny tekst źródłaLiu, Ji-Shi, Liang-Liang Fan, Hao Zhang, Xiaoxian Liu, Hao Huang, Li-Jian Tao, Kun Xia i Rong Xiang. "Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy". Cardiology 136, nr 1 (20.08.2016): 10–14. http://dx.doi.org/10.1159/000447422.
Pełny tekst źródłaFrayling, Ian M., Victor-Felix Mautner, Rick van Minkelen, Roope A. Kallionpaa, Safiye Aktaş, Diana Baralle, Shay Ben-Shachar i in. "Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation". Journal of Medical Genetics 56, nr 4 (10.12.2018): 209–19. http://dx.doi.org/10.1136/jmedgenet-2018-105599.
Pełny tekst źródłaHsu, Hung-Chih, Jeng-Fu You, Shu-Jen Chen, Hua-Chien Chen, Chien-Yuh Yeh, Wen-Sy Tsai, Hsin-Yuan Hung, Tsai-Sheng Yang, Nina Lapke i Kien Thiam Tan. "TP53 DNA Binding Domain Mutations Predict Progression-Free Survival of Bevacizumab Therapy in Metastatic Colorectal Cancer". Cancers 11, nr 8 (30.07.2019): 1079. http://dx.doi.org/10.3390/cancers11081079.
Pełny tekst źródłaGirolami, Antonio, Elisabetta Cosi, Silvia Ferrari i Bruno Girolami. "Prothrombin: Another Clotting Factor After FV That Is Involved Both in Bleeding and Thrombosis". Clinical and Applied Thrombosis/Hemostasis 24, nr 6 (24.04.2018): 845–49. http://dx.doi.org/10.1177/1076029618770741.
Pełny tekst źródłaGong, Wen-yu, Fan-na Liu, Liang-hong Yin i Jun Zhang. "Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review". BioMed Research International 2021 (2.03.2021): 1–10. http://dx.doi.org/10.1155/2021/6664973.
Pełny tekst źródłaManabe, J., R. Arya, H. Sumimoto, T. Yubisui, AJ Bellingham, DM Layton i Y. Fukumaki. "Two novel mutations in the reduced nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase gene of a patient with generalized type, hereditary methemoglobinemia". Blood 88, nr 8 (15.10.1996): 3208–15. http://dx.doi.org/10.1182/blood.v88.8.3208.bloodjournal8883208.
Pełny tekst źródłaHavali, Cengiz, Sevil Dorum, Yılmaz Akbaş, Orhan Görükmez i Tugba Hirfanoglu. "Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation". Journal of Pediatric Endocrinology and Metabolism 33, nr 3 (26.03.2020): 437–41. http://dx.doi.org/10.1515/jpem-2019-0194.
Pełny tekst źródłaSakuma, Naoko, Hideaki Moteki, Hela Azaiez, Kevin T. Booth, Masahiro Takahashi, Yasuhiro Arai, A. Eliot Shearer i in. "Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss". Annals of Otology, Rhinology & Laryngology 124, nr 1_suppl (18.03.2015): 184S—192S. http://dx.doi.org/10.1177/0003489415575041.
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