Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 98 Records) |
Query Trace: MITF[original query] |
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Investigation of the Role of Interleukin 6 in Vitiligo Pathogenesis. Immunological investigations 2020 Aug 1-18. Singh Mala, Jadeja Shahnawaz D, Vaishnav Jayvadan, Mansuri Mohmmad Shoab, Shah Chandni, Mayatra Jay M, Shah Atul, Begum Rasheedunni |
A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes. International journal of molecular sciences 2020 Dec 21 (24): . De Simone Paola, Bottillo Irene, Valiante Michele, Iorio Alessandra, De Bernardo Carmelilia, Majore Silvia, D'Angelantonio Daniela, Valentini Tiziana, Sperduti Isabella, Piemonte Paolo, Eibenschutz Laura, Ferrari Angela, Carbone Anna, Buccini Pierluigi, Paiardini Alessandro, Silipo Vitaliano, Frascione Pasquale, Grammatico Pao |
Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients. Frontiers in genetics 2020 11 552971. Mighri Najah, Hamdi Yosr, Boujemaa Maroua, Othman Houcemeddine, Ben Nasr Sonia, El Benna Houda, Mejri Nesrine, Labidi Soumaya, Ayari Jihen, Jaidene Olfa, Bouaziz Hanen, Ben Rekaya Mariem, M'rad Ridha, Haddaoui Abderrazek, Rahal Khaled, Boussen Hamouda, Boubaker Samir, Abdelhak Son |
Inherited genetic variants associated with glucocorticoid sensitivity in leukaemia cells.
Journal of cellular and molecular medicine 2020 10 24 (22): 12920-12932. Shinohara Tamao, Urayama Kevin Y, Watanabe Atsushi, Akahane Koshi, Goi Kumiko, Huang Meixian, Kagami Keiko, Abe Masako, Sugita Kanji, Okada Yukinori, Goto Hiroaki, Minegishi Masayoshi, Iwamoto Shotaro, Inukai Takes |
Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients. Genes 2021 Sep 12 (9): . Vergani Elisabetta, Frigerio Simona, Dugo Matteo, Devecchi Andrea, Feltrin Erika, De Cecco Loris, Vallacchi Viviana, Cossa Mara, Di Guardo Lorenza, Manoukian Siranoush, Peissel Bernard, Ferrari Andrea, Gallino Gianfrancesco, Maurichi Andrea, Rivoltini Licia, Sensi Marialuisa, Rodolfo Moni |
Intragenic NF1 deletions in sinonasal mucosal malignant melanoma. Pigment cell & melanoma research 2021 Sep . Riobello Cristina, Casanueva Muruais Rodrigo, Suárez-Fernández Laura, García-Marín Rocío, Cabal Virginia N, Blanco-Lorenzo Verónica, Franchi Alessandro, Laco Jan, López Fernando, Llorente José Luis, Hermsen Mario |
Effect of BsaA I genotyped intronic SNP of leptin gene on production and reproduction traits in Indian dairy cattle. Animal biotechnology 2021 8 1-7. Yadav Tejwanti, Magotra Ankit, Bangar Yogesh C, Kumar Ramesh, Yadav A S, Garg Asha Rani, Bahurupi Pooja, Kumar Pank |
A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2. Molecular syndromology 2021 8 12 (4): 244-249. Li Ying, Xu Yajuan, Li Genxia, Chen Kang, Yu Haiyang, Gao Jinshuang, Tian Weifang, Liu Yuehua, Liu Pingping, Zhang Linlin, Zhang Zh |
Expanding the phenotype of E318K (c.952G?>?A) MITF germline mutation carriers: case series and review of the literature. Hereditary cancer in clinical practice 2021 Jul 19 (1): 32. Oliveira Leandro Jonata Carvalho, Gongora Aline Bobato Lara, Lima Fabiola Ambrosio Silveira, Canedo Felipe Sales Nogueira Amorim, Quirino Carla Vanessa, Pisani Janina Pontes, Achatz Maria Isabel, Rossi Benedito Mau |
Exome-based investigation of the genetic basis of human pigmentary glaucoma. BMC genomics 2021 Jun 22 (1): 477. van der Heide Carly, Goar Wes, Meyer Kacie J, Alward Wallace L M, Boese Erin A, Sears Nathan C, Roos Ben R, Kwon Young H, DeLuca Adam P, Siggs Owen M, Gonzaga-Jauregui Claudia, Sheffield Val C, Wang Kai, Stone Edwin M, Mullins Robert F, Anderson Michael G, Fan Bao Jian, Ritch Robert, Craig Jamie E, Wiggs Janey L, Scheetz Todd E, Fingert John |
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype. Genetics in medicine : official journal of the American College of Medical Genetics 2021 6 23 (9): 1636-1647. Polubothu Satyamaanasa, Zecchin Davide, Al-Olabi Lara, Lionarons Daniël A, Harland Mark, Horswell Stuart, Thomas Anna C, Hunt Lilian, Wlodarchak Nathan, Aguilera Paula, Brand Sarah, Bryant Dale, Carrera Cristina, Chen Hui, Elgar Greg, Harwood Catherine A, Howell Michael, Larue Lionel, Loughlin Sam, MacDonald Jeff, Malvehy Josep, Barberan Sara Martin, da Silva Vanessa Martins, Molina Miriam, Morrogh Deborah, Moulding Dale, Nsengimana Jérémie, Pittman Alan, Puig-Butillé Joan-Anton, Parmar Kiran, Sebire Neil J, Scherer Stephen, Stadnik Paulina, Stanier Philip, Tell Gemma, Waelchli Regula, Zarrei Mehdi, Puig Susana, Bataille Véronique, Xing Yongna, Healy Eugene, Moore Gudrun E, Di Wei-Li, Newton-Bishop Julia, Downward Julian, Kinsler Veronica |
Meta-Analysis and Systematic Review of the Genomics of Mucosal Melanoma. Molecular cancer research : MCR 2021 3 19 (6): 991-1004. Broit Natasa, Johansson Peter A, Rodgers Chloe B, Walpole Sebastian T, Newell Felicity, Hayward Nicholas K, Pritchard Antonia |
PD-L1 expression is regulated by microphthalmia-associated transcription factor (MITF) in nodular melanoma. Pathology, research and practice 2021 12 229 153725. Vu?ini? Damir, Grahovac Maja, Grahovac Blaženka, Vitezi? Bojana Mohar, Kova? Leo, Beluši?-Gobi? Margita, Zamolo Gorda |
Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia. JAMA network open 2021 11 4 (11): e2132615. Gupta Sounak, Erickson Lori A, Lohse Christine M, Shen Wei, Pitel Beth A, Knight Shannon M, Halling Kevin C, Herrera-Hernandez Loren, Boorjian Stephen A, Thompson R Houston, Leibovich Bradley C, Jimenez Rafael E, Cheville John |
Intronic variants of MITF (rs7623610) and CREB1 (rs10932201) genes may enhance splicing efficiency in human melanoma cell line. Mutation research 2021 Oct 823 111763. Carron Juliana, Torricelli Caroline, Silva Janet Keller, Coser Lilian de Oliveira, Lima Carmen Silvia Passos, Lourenço Gustavo Jac |
Melanoma in children and adolescents: analysis of susceptibility genes in 123 Italian patients. Journal of the European Academy of Dermatology and Venereology : JEADV 2021 10 36 (2): 213-221. Pellegrini C, Raimondi S, Di Nardo L, Ghiorzo P, Menin C, Manganoni M A, Palmieri G, Guida G, Quaglino P, Stanganelli I, Massi D, Pastorino L, Elefanti L, Tosti G, Queirolo P, Leva A, Maurichi A, Rodolfo M, Fargnoli M C, |
De-novo and genome-wide meta-analyses identify a risk haplotype for congenital sensorineural deafness in Dalmatian dogs. Scientific reports 2022 9 12 (1): 15439. Haase B, Willet C E, Chew T, Samaha G, Child G, Wade C |
Genome-Wide Association Study for Screening and Identifying Potential Shin Color Loci in Ducks. Genes 2022 8 13 (8): . Guo Qixin, Jiang Yong, Wang Zhixiu, Bi Yulin, Chen Guohong, Bai Hao, Chang Guob |
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing. Journal of human genetics 2022 8 67 (11): 643-649. Wu Jie, Cao Zongfu, Su Yu, Wang Yang, Cai Ruikun, Chen Jiyue, Gao Bo, Han Mingyu, Li Xiaohong, Zhang DeJun, Gao Xue, Huang Shasha, Huang Quanfei, Yuan Yongyi, Ma Xu, Dai |
A KIT Variant Associated with Increased White Spotting Epistatic to MC1R Genotype in Horses (Equus caballus). Animals : an open access journal from MDPI 2022 8 12 (15): . Patterson Rosa Laura, Martin Katie, Vierra Micaela, Lundquist Erica, Foster Gabriel, Brooks Samantha A, Lafayette Chris |
Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup. ESMO open 2022 7 7 (4): 100525. Bruno W, Dalmasso B, Barile M, Andreotti V, Elefanti L, Colombino M, Vanni I, Allavena E, Barbero F, Passoni E, Merelli B, Pellegrini S, Morgese F, Danesi R, Calò V, Bazan V, D'Elia A V, Molica C, Gensini F, Sala E, Uliana V, Soma P F, Genuardi M, Ballestrero A, Spagnolo F, Tanda E, Queirolo P, Mandalà M, Stanganelli I, Palmieri G, Menin C, , Pastorino L, Ghiorzo |
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes. Genome medicine 2022 06 14 (1): 65. Wang Meng, Banik Ishani, Shain A Hunter, Yeh Iwei, Bastian Boris |
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 |
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome. Human genetics 2022 12 142 (3): 419-430. Li Xiaohong, Huang Shasha, Wang Guojian, Kang Dongyang, Han Mingyu, Wu Xiedong, Yang Jinyuan, Zheng Qiuchen, Zhao Chaoyue, Yuan Yongyi, Dai |
Genetic etiological analysis of auditory neuropathy spectrum disorder by next-generation sequencing. Frontiers in neurology 2022 12 13 1026695. Sun Lianhua, Lin Zhengyu, Zhang Jifang, Shen Jiali, Wang Xiaowen, Yang J |
Immune and Genomic Analysis of Boxer Dog Breed and Its Relationship with Leishmania infantum Infection. Veterinary sciences 2022 11 9 (11): . Álvarez Luis, Marín-García Pablo-Jesús, Rentero-Garrido Pilar, Llobat Lo |
De novo variants are a common cause of genetic hearing loss. Genetics in medicine : official journal of the American College of Medical Genetics 2022 Oct . Klimara Miles J, Nishimura Carla, Wang Donghong, Kolbe Diana L, Schaefer Amanda M, Walls William D, Frees Kathy L, Smith Richard J H, Azaiez He |
MC1R 'r' allele does not increase melanoma risk in MITF E318K carriers. The British journal of dermatology 2023 3 . Wallingford Courtney K, Demeshko Anastassia, Krishnankutty Krishnakripa Asha, Smit Darren J, Duffy David L, Betz-Stablein Brigid, Pflugfelder Annette, Jagirdar Kasturee, Holland Elizabeth, Mann Graham J, Primiero Clare A, Yanes Tatiane, Malvehy Josep, Badenas Cèlia, Carrera Cristina, Aguilera Paula, Olsen Catherine M, Ward Sarah V, Haass Nikolas K, Sturm Richard A, Puig Susanna, Whiteman David C, Law Matthew H, Cust Anne E, Potrony Miriam, Soyer H Peter, McInerney-Leo Aideen |
Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients. International journal of molecular sciences 2023 11 24 (21): . Bianca Costa Soares de Sá, Luciana Facure Moredo, Giovana Tardin Torrezan, Felipe Fidalgo, Érica Sara Souza de Araújo, Maria Nirvana Formiga, João Pereira Duprat, Dirce Maria Carra |
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes. JAMA otolaryngology-- head & neck surgery 2023 1 149 (3): 212-222. Carlson Ryan J, Walsh Tom, Mandell Jessica B, Aburayyan Amal, Lee Ming K, Gulsuner Suleyman, Horn David L, Ou Henry C, Sie Kathleen C Y, Mancl Lisa, Rubinstein Jay, King Mary-Clai |
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- Page last updated:Apr 22, 2024
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