Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 53 Records) |
| Query Trace: Disease and TYR[original query] |
|---|
| Polymorphism of receptor-type tyrosine-protein phosphatase delta gene in the development of non-alcoholic fatty liver disease. Journal of gastroenterology and hepatology 2017 May . Nakajima Shunsuke, Tanaka Hiroki, Sawada Koji, Hayashi Hidemi, Hasebe Takumu, Abe Masami, Hasebe Chitomi, Fujiya Mikihiro, Okumura Toshikat |
| Association of CagA EPIYA-D or EPIYA-C phosphorylation sites with peptic ulcer and gastric cancer risks: A meta-analysis. Medicine 2017 Apr 96 (17): e6620. Li Qiuping, Liu Jingwei, Gong Yuehua, Yuan Yu |
| Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting. Pigment cell & melanoma research 2017 10 31 (2): 318-329. Marti Aurélie, Lasseaux Eulalie, Ezzedine Khaled, Léauté-Labrèze Christine, Boralevi Franck, Paya Clément, Coste Valentine, Deroissart Vincent, Arveiler Benoit, Taieb Alain, Morice-Picard Fan |
| Rare germline variants in known melanoma susceptibility genes in familial melanoma. Human molecular genetics 2017 Oct . Goldstein Alisa M, Xiao Yanzi, Sampson Joshua, Zhu Bin, Rotunno Melissa, Bennett Hunter, Wen Yixuan, Jones Kristine, Vogt Aurelie, Burdette Laurie, Luo Wen, Zhu Bin, Yeager Meredith, Hicks Belynda, Han Jiali, De Vivo Immaculata, Koutros Stella, Andreotti Gabriella, Beane-Freeman Laura, Purdue Mark, Freedman Neal D, Chanock Stephen J, Tucker Margaret A, Yang Xiaohong |
| Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels. PloS one 2018 13 (3): e0193893. Nair-Shalliker Visalini, Egger Sam, Chrzanowska Agata, Mason Rebecca, Waite Louise, Le Couteur David, Seibel Markus J, Handelsman David J, Cumming Robert, Smith David P, Armstrong Bruce |
| Associations Between CagA, VacA, and the Clinical Outcomes of Helicobacter Pylori Infections in Okinawa, Japan. The Kobe journal of medical sciences 2018 2 63 (2): E58-E67. Inagaki Tomoko, Nishiumi Shin, Ito Yoshiyuki, Yamakawa Akiyo, Yamazaki Yukinao, Yoshida Masaru, Azuma Takes |
| Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing. Genetic testing and molecular biomarkers 2018 2 22 (4): 252-258. Qiu Biyuan, Ma Tao, Peng Chunyan, Zheng Xiaoqin, Yang Jiy |
| Critical amino acid variations in HLA-DQB1* molecules confers susceptibility to Autoimmune Thyroid Disease in south India. Genes and immunity 2018 Jan . Ramgopal S, Rathika C, Padma Malini R, Murali V, Arun K, Balakrishnan |
| The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identified. Acta ophthalmologica 2019 May . Avela Kristiina, Salonen-Kajander Riitta, Laitinen Arja, Ramsden Simon, Barton Stephanie, Rudanko Sirkka-Lii |
| Clinical and genetic variability in children with partial albinism. Scientific reports 2019 11 9 (1): 16576. Campbell Patrick, Ellingford Jamie M, Parry Neil R A, Fletcher Tracy, Ramsden Simon C, Gale Theodora, Hall Georgina, Smith Katherine, Kasperaviciute Dalia, Thomas Ellen, Lloyd I Chris, Douzgou Sofia, Clayton-Smith Jill, Biswas Susmito, Ashworth Jane L, Black Graeme C M, Sergouniotis Panagiotis |
| Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients. Journal of the European Academy of Dermatology and Venereology : JEADV 2019 Jan . Rayner J E, McMeniman E K, Duffy D L, De'Ambrosis B, Smithers B M, Jagirdar K, Lee K J, Soyer H P, Sturm R |
| Lymph node metastasis in hereditary medullary thyroid cancer is independent of the underlying RET germline mutation. European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology 2020 9 47 (4): 920-923. Machens Andreas, Lorenz Kerstin, Weber Frank, Dralle Henni |
| Role of [68Ga]DOTANOC PET/computed tomography and [131I]MIBG scintigraphy in the management of patients with pheochromocytoma and paraganglioma: a prospective study. Nuclear medicine communications 2020 8 41 (10): 1047-1059. Singh Deepa, Shukla Jaya, Walia Rama, Vatsa Rakhee, Paul Nandini, Chhabra Anupriya, Nahar Uma, Singh Harmandeep, Kumar Rajender, Bhansali Anil, Rai Mittal Bhagwa |
| [Spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 7 37 (7): 725-730. Wang Conghui, Chen Chen, Zhao Xuechao, Zhao Ganye, Liu Lina, Kong Xiangdo |
| Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil. BMC cancer 2020 Nov 20 (1): 1069. Reis Larissa B, Bakos Renato M, Vianna Fernanda S L, Macedo Gabriel S, Jacovas Vanessa C, Ribeiro-Dos-Santos André M, Santos Sidney, Bakos Lúcio, Ashton-Prolla Patric |
| Tyrosine O-GalNAc Alters the Conformation and Proteolytic Susceptibility of APP Model Glycopeptides. ACS chemical neuroscience 2021 7 12 (16): 2974-2980. Singh YashoNandini, Ormaza David, Massetti Alessandra, Minond Dmitriy, Cudic Ma |
| A novel WT1 gene mutation in a chinese girl with denys-drash syndrome. Journal of clinical laboratory analysis 2021 5 35 (5): e23769. Wang Faliang, Cai Jiabin, Wang Jinhu, He Min, Mao Junqing, Zhu Kun, Zhao Manli, Guan Zhonghai, Li Linjie, Jin Hongchuan, Shu Qia |
| Higher susceptibility to heme oxidation and lower protein stability of the rare aC517Yß sGC variant associated with moyamoya syndrome. Biochemical pharmacology 2021 Feb 114459. Sharina Iraida, Lezgyieva Karina, Krutsenko Yekaterina, Martin Em |
| NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism. BMC genomics 2022 4 23 (1): 332. Xiao Yuanyuan, Zhou Cong, Xie Hanbing, Huang Shuang, Wang Jing, Liu Shanli |
| Association of TYR SNP rs1042602 with Melanoma Risk and Prognosis. Life (Basel, Switzerland) 2022 12 12 (12): . Sevilla Arrate, Sánchez-Diez Ana, Cobo Sofía, Izagirre Neskuts, Martinez-Cadenas Conrado, Martí Rosa M, Puértolas Teresa, de Unamuno Blanca, Bañuls José, Izu Rosa, Gardeazabal Jesús, Asumendi Aintzane, Boyano María D, Alonso Sant |
Genome-Wide Association Study Identifies Two Common Loci Associated with Pigment Dispersion Syndrome/Pigmentary Glaucoma and Implicates Myopia in its Development.
Ophthalmology 2022 1 129 (6): 626-636. Simcoe Mark J, Shah Ameet, Fan Baojian, Choquet Hélène, Weisschuh Nicole, Waseem Naushin H, Jiang Chen, Melles Ronald B, Ritch Robert, Mahroo Omar A, Wissinger Bernd, Jorgenson Eric, Wiggs Janey L, Garway-Heath David F, Hysi Pirro G, Hammond Christopher |
| Molecular pathology and clinical treatment of independent HPV primary serous carcinoma of the uterine cervix (USCC): A case report. Clinical case reports 2023 9 11 (9): e7833. Lina Niu, Fangying Ruan, Qisheng Yang, Chaoran Xia, Tao Xu, Fei Dong, Lizhen Zhang, Sheng Guo, Weiqin Lv, Junxia Wang, Yun Sha |
| Recurrent atypical teratoid/rhabdoid tumors (AT/RT) reveal discrete features of progression on histology, epigenetics, copy number profiling, and transcriptomics. Acta neuropathologica 2023 7 . Pascal D Johann, Lea Altendorf, Emma-Maria Efremova, Till Holsten, Mona Steinbügl, Karolina Nemes, Alicia Eckhardt, Catena Kresbach, Michael Bockmayr, Arend Koch, Christine Haberler, Manila Antonelli, John DeSisto, Martin U Schuhmann, Peter Hauser, Reiner Siebert, Susanne Bens, Marcel Kool, Adam L Green, Martin Hasselblatt, Michael C Frühwald, Ulrich Schüll |
| Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B. American journal of human genetics 2023 6 . Stacie K Loftus, Meredith F Gillis, Linnea Lundh, Laura L Baxter, Julia C Wedel, Dawn E Watkins-Chow, Frank X Donovan, , Yuri V Sergeev, William S Oetting, William J Pavan, David R Ada |
| Evaluation of polymorphisms and expression of PTPN22, NLRP1 and TYR genes in vitiligo patients. Postepy dermatologii i alergologii 2023 6 40 (2): 225-233. Kaja M?ci?ska-Jundzi??, Tadeusz Tadrowski, Arkadiusz Jundzi??, Henryk Witmanowski, Rafa? Czajkow |
| Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population. Genes 2023 1 14 (1): . Chan Kyle S, Bohnsack Brenda L, Ing Alexander, Drackley Andy, Castelluccio Valerie, Zhang Kevin X, Ralay-Ranaivo Hanta, Rossen Jennifer |
| Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort.
Genes 2023 1 14 (1): . Farré Xavier, Blay Natalia, Cortés Beatriz, Carreras Anna, Iraola-Guzmán Susana, de Cid Rafa |
| The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism. Nature communications 2024 9 15 (1): 8436. David J Green, Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, , Tomas Fitzgerald, Ewan Birney, Graeme C Black, Benoît Arveiler, Panagiotis I Sergouniot |
| Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India. Molecular biology reports 2024 7 51 (1): 818. Tithi Dutta, Kausik Ganguly, Arpan Saha, Asim Sil, Kunal Ray, Mainak Sengup |
| Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients. Biomedicines 2024 10 12 (10): . Olga Shchagina, Anna Stepanova, Polina Mishakova, Vitaliy Kadyshev, Nina Demina, Ludmila Bessonova, Sofya Ionova, Daria Guseva, Andrey Marakhonov, Rena Zinchenko, Sergey Kutsev, Aleksander Polyak |
- Page last reviewed:Feb 1, 2024
- Content source: