Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

1.

Merlin cooperates with neurofibromin and Spred1 to suppress the Ras-Erk pathway.

Cui, Yan; Ma, Lin; Schacke, Stephan; Yin, Jiani C; Hsueh, Yi-Ping; Jin, Hongchuan; Morrison, Helen.

Hum Mol Genet ; 29(23): 3793-3806, 2021 02 04.

Artículo en Inglés | MEDLINE | ID: mdl-33331896

2.

Rare mutation-dominant compound EGFR-positive NSCLC is associated with enriched kinase domain-resided variants of uncertain significance and poor clinical outcomes.

Zhao, Weixin; Song, Ailing; Xu, Yang; Wu, Qian; Liu, Cuicui; Yin, Jiani C; Ou, Qiuxiang; Wu, Xue; Shao, Yang; Zhao, Xinmin.

BMC Med ; 21(1): 73, 2023 02 24.

Artículo en Inglés | MEDLINE | ID: mdl-36829178

3.

Heterogeneity in the immune microenvironment of bone metastasis in driver-positive non-small cell lung cancer.

Yang, Xiao-Rong; Pi, Can; Zhang, Yi-Chen; Chen, Zhi-Hong; Zhang, Xu-Chao; Zhu, Dong-Qin; Yang, Ling-Ling; Yin, Jiani C; Deng, Jia-Yi; Yang, Ming-Yi; Luo, Wei-Chi; Wu, Yi-Long; Zhou, Qing.

Mol Carcinog ; 62(7): 1001-1008, 2023 07.

Artículo en Inglés | MEDLINE | ID: mdl-37067398

4.

Prognostic value of genetic aberrations and tumor immune microenvironment in primary acral melanoma.

Huang, Rong; Shen, Gaigai; Ren, Yu; Zheng, Kelin; Wang, Jiayu; Shi, Yan; Yin, Jiani C; Qin, Lanqun; Zhang, Guiying; Zhao, Mengke; Su, Xinyu; Li, Luqiao; Wang, Fufeng; Shao, Yang; Liu, Baorui; Zou, Zhengyun.

J Transl Med ; 21(1): 78, 2023 02 04.

Artículo en Inglés | MEDLINE | ID: mdl-36739402

5.

Genetic characterisation of sarcomatoid carcinomas reveals multiple novel actionable mutations and identifies KRAS mutation as a biomarker of poor prognosis.

Ding, Ying; Shao, Yang; Na, Chenglong; Yin, Jiani C; Hua, Hongjin; Tao, Ran; Jiang, Yue; Hu, Ran; He, Xiao; Miao, Chen; Zhu, Dongqin; Zhang, Zhihong.

J Med Genet ; 59(1): 10-17, 2022 01.

Artículo en Inglés | MEDLINE | ID: mdl-33115932

6.

Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.

Chen, Chun-An; Pal, Rituraj; Yin, Jiani; Tao, Huifang; Amawi, Abdallah; Sabo, Aniko; Bainbridge, Matthew N; Gibbs, Richard A; Zoghbi, Huda Y; Schaaf, Christian P.

Hum Mol Genet ; 29(3): 459-470, 2020 02 01.

Artículo en Inglés | MEDLINE | ID: mdl-31943016

7.

Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.

Chen, Chun-An; Wang, Wei; Pedersen, Steen E; Raman, Ayush; Seymour, Michelle L; Ruiz, Fernanda R; Xia, Anping; van der Heijden, Meike E; Wang, Li; Yin, Jiani; Lopez, Joanna; Rech, Megan E; Lewis, Richard A; Wu, Samuel M; Liu, Zhandong; Pereira, Fred A; Pautler, Robia G; Zoghbi, Huda Y; Schaaf, Christian P.

Hum Mol Genet ; 29(5): 705-715, 2020 03 27.

Artículo en Inglés | MEDLINE | ID: mdl-31600777

8.

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.

Riggs, Erin Rooney; Bingaman, Taylor I; Barry, Carrie-Ann; Behlmann, Andrea; Bluske, Krista; Bostwick, Bret; Bright, Alison; Chen, Chun-An; Clause, Amanda R; Dharmadhikari, Avinash V; Ganapathi, Mythily; Gonzaga-Jauregui, Claudia; Grant, Andrew R; Hughes, Madeline Y; Kim, Se Rin; Krause, Amanda; Liao, Jun; Lumaka, Aimé; Mah, Michelle; Maloney, Caitlin M; Mohan, Shruthi; Osei-Owusu, Ikeoluwa A; Reble, Emma; Rennie, Olivia; Savatt, Juliann M; Shimelis, Hermela; Siegert, Rebecca K; Sneddon, Tam P; Thaxton, Courtney; Toner, Kelly A; Tran, Kien Trung; Webb, Ryan; Wilcox, Emma H; Yin, Jiani; Zhuo, Xinming; Znidarsic, Masa; Martin, Christa Lese; Betancur, Catalina; Vorstman, Jacob A S; Miller, David T; Schaaf, Christian P.

Genet Med ; 24(9): 1899-1908, 2022 09.

Artículo en Inglés | MEDLINE | ID: mdl-35616647

9.

A novel intergenic region ALK fusion is targetable by alectinib in a non-small cell lung cancer patient with brain metastasis.

Cheng, Wanwan; Qian, Chunfa; Zhang, Haitao; Meng, Qi; Yin, Jiani C; Fang, Shencun.

Anticancer Drugs ; 33(10): 1182-1185, 2022 11 01.

Artículo en Inglés | MEDLINE | ID: mdl-35946559

10.

Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.

Yin, Jiani; Chen, Wu; Chao, Eugene S; Soriano, Sirena; Wang, Li; Wang, Wei; Cummock, Steven E; Tao, Huifang; Pang, Kaifang; Liu, Zhandong; Pereira, Fred A; Samaco, Rodney C; Zoghbi, Huda Y; Xue, Mingshan; Schaaf, Christian P.

Am J Hum Genet ; 102(2): 296-308, 2018 02 01.

Artículo en Inglés | MEDLINE | ID: mdl-29395075

11.

Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells.

Gillentine, Madelyn A; Yin, Jiani; Bajic, Aleksandar; Zhang, Ping; Cummock, Steven; Kim, Jean J; Schaaf, Christian P.

Am J Hum Genet ; 101(6): 874-887, 2017 Dec 07.

Artículo en Inglés | MEDLINE | ID: mdl-29129316

12.

Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.

McCarthy, John M; McCann-Crosby, Bonnie M; Rech, Megan E; Yin, Jiani; Chen, Chun-An; Ali, May A; Nguyen, HaiThuy N; Miller, Jennifer L; Schaaf, Christian P.

J Med Genet ; 55(5): 307-315, 2018 05.

Artículo en Inglés | MEDLINE | ID: mdl-29496979

13.

Genetic causes of optic nerve hypoplasia.

Chen, Chun-An; Yin, Jiani; Lewis, Richard Alan; Schaaf, Christian P.

J Med Genet ; 54(7): 441-449, 2017 07.

Artículo en Inglés | MEDLINE | ID: mdl-28501829

14.

Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).

Fang, Zhenhao; Marshall, Christopher B; Yin, Jiani C; Mazhab-Jafari, Mohammad T; Gasmi-Seabrook, Geneviève M C; Smith, Matthew J; Nishikawa, Tadateru; Xu, Yang; Neel, Benjamin G; Ikura, Mitsuhiko.

J Biol Chem ; 291(30): 15641-52, 2016 07 22.

Artículo en Inglés | MEDLINE | ID: mdl-27226556

15.

Autism genetics - an overview.

Yin, Jiani; Schaaf, Christian P.

Prenat Diagn ; 37(1): 14-30, 2017 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-27743394

16.

Next-generation sequencing identifies rare variants associated with Noonan syndrome.

Chen, Peng-Chieh; Yin, Jiani; Yu, Hui-Wen; Yuan, Tao; Fernandez, Minerva; Yung, Christina K; Trinh, Quang M; Peltekova, Vanya D; Reid, Jeffrey G; Tworog-Dube, Erica; Morgan, Margaret B; Muzny, Donna M; Stein, Lincoln; McPherson, John D; Roberts, Amy E; Gibbs, Richard A; Neel, Benjamin G; Kucherlapati, Raju.

Proc Natl Acad Sci U S A ; 111(31): 11473-8, 2014 Aug 05.

Artículo en Inglés | MEDLINE | ID: mdl-25049390

17.

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.

Cordeddu, Viviana; Yin, Jiani C; Gunnarsson, Cecilia; Virtanen, Carl; Drunat, Séverine; Lepri, Francesca; De Luca, Alessandro; Rossi, Cesare; Ciolfi, Andrea; Pugh, Trevor J; Bruselles, Alessandro; Priest, James R; Pennacchio, Len A; Lu, Zhibin; Danesh, Arnavaz; Quevedo, Rene; Hamid, Alaa; Martinelli, Simone; Pantaleoni, Francesca; Gnazzo, Maria; Daniele, Paola; Lissewski, Christina; Bocchinfuso, Gianfranco; Stella, Lorenzo; Odent, Sylvie; Philip, Nicole; Faivre, Laurence; Vlckova, Marketa; Seemanova, Eva; Digilio, Cristina; Zenker, Martin; Zampino, Giuseppe; Verloes, Alain; Dallapiccola, Bruno; Roberts, Amy E; Cavé, Hélène; Gelb, Bruce D; Neel, Benjamin G; Tartaglia, Marco.

Hum Mutat ; 36(11): 1080-7, 2015 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-26173643

18.

A comparative study of synthetic and venous hematocrit for calculating cardiovascular magnetic resonance-derived extracellular volume.

Yin, Jiani; Qin, Jie; Liu, Wangyan; Zhu, Yinsu; Zhou, Xiaoyue; Wang, Yunfei; Zhu, Xiaomei; Xu, Yi.

Int J Cardiovasc Imaging ; 40(4): 769-778, 2024 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-38175388

19.

Examining the reliability of the emotional conflict resolution and adaptation effects in the emotional conflict task via secondary data analysis, systematic review, and meta-analysis.

Yin, Jiani; Wang, Yi; Lipp, Ottmar V; Mayo, Leah M; Ney, Luke J.

J Exp Psychol Gen ; 153(5): 1361-1373, 2024 May.

Artículo en Inglés | MEDLINE | ID: mdl-38546549

20.

Improving water quality and mitigating CH₄ and N₂O production in urban landscape water simultaneously by optimizing calcium peroxide dosage.

Liang, Zhen-Hao; Wang, Yi; Zhao, Hui-Ying; Fu, Tian-Tian; Liu, Yong-Qiang; Zhang, Kai; Wang, Yue-Ning; Ouyang, Hui-Long; Yin, Jia-Ni.

Sci Total Environ ; 927: 172270, 2024 Jun 01.

Artículo en Inglés | MEDLINE | ID: mdl-38583627

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