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Select item 73892261.

3例赖氨酸尿性蛋白耐受不良患儿的临床特点及SLC7A7基因突变分析

崔冬, 胡宇慧, 唐根, 沈丹, 陈黎, 廖建湘, 陈淑丽

Zhongguo Dang Dai Er Ke Za Zhi. 2019 Apr 25; 21(4): 375–380. Chinese. doi: 10.7499/j.issn.1008-8830.2019.04.014

PMCID:: PMC7389226

Abstract Article PDF–1.8M

Select item 63999262.

Analysis of LPI-causing mutations on y+LAT1 function and localization

Bianca Maria Rotoli, Amelia Barilli, Filippo Ingoglia, Rossana Visigalli, Massimiliano G. Bianchi, Francesca Ferrari, Diego Martinelli, Carlo Dionisi-Vici, Valeria Dall’Asta

Orphanet J Rare Dis. 2019; 14: 63. Published online 2019 Mar 4. doi: 10.1186/s13023-019-1028-2

PMCID:: PMC6399926

Abstract Article PDF–1.9M

Select item 60993733.

New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance

Guoqing Zhang, Ling Cao

Pediatr Pulmonol. 2017 Nov; 52(11): E94–E96. Published online 2017 Oct 23. doi: 10.1002/ppul.23760

PMCID:: PMC6099373

Abstract Article PDF–396K

Select item 58683224.

Downregulation of SLC7A7 Triggers an Inflammatory Phenotype in Human Macrophages and Airway Epithelial Cells

Bianca Maria Rotoli, Amelia Barilli, Rossana Visigalli, Filippo Ingoglia, Marco Milioli, Maria Di Lascia, Benedetta Riccardi, Paola Puccini, Valeria Dall’Asta

Front Immunol. 2018; 9: 508. Published online 2018 Mar 19. doi: 10.3389/fimmu.2018.00508

PMCID:: PMC5868322

Abstract Article PDF–2.7M

Select item 29859565.

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat

Mariona Font-Llitjós, Benjamín Rodríguez-Santiago, Meritxell Espino, Ruth Sillué, Sandra Mañas, Laia Gómez, Luis A Pérez-Jurado, Manuel Palacín, Virginia Nunes

Eur J Hum Genet. 2009 Jan; 17(1): 71–79. Published online 2008 Aug 20. doi: 10.1038/ejhg.2008.145

PMCID:: PMC2985956

Abstract Article PDF–462K

Select item 17161316.

Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.

T Lauteala, P Sistonen, M L Savontaus, J Mykkänen, J Simell, M Lukkarinen, O Simell, P Aula

Am J Hum Genet. 1997 Jun; 60(6): 1479–1486. doi: 10.1086/515457

PMCID:: PMC1716131

Summary Page Browse PDF–1.4M

Select item 12883527.

Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance

Maria Pia Sperandeo, Maria Teresa Bassi, Mirko Riboni, Giancarlo Parenti, Anna Buoninconti, Marta Manzoni, Barbara Incerti, Maria Rosaria Larocca, Maja Di Rocco, Pietro Strisciuglio, Irma Dianzani, Rossella Parini, Miranda Candito, Fumio Endo, Andrea Ballabio, Generoso Andria, Gianfranco Sebastio, Giuseppe Borsani

Am J Hum Genet. 2000 Jan; 66(1): 92–99. Published online 1999 Dec 20. doi: 10.1086/302700

PMCID:: PMC1288352

Abstract Article PDF–223K

Select item 78037398.

L-type amino acid transporter 1 is associated with chemoresistance in breast cancer via the promotion of amino acid metabolism

Miku Sato, Narumi Harada-Shoji, Takafumi Toyohara, Tomoyoshi Soga, Masatoshi Itoh, Minoru Miyashita, Hiroshi Tada, Masakazu Amari, Naohiko Anzai, Shozo Furumoto, Takaaki Abe, Takashi Suzuki, Takanori Ishida, Hironobu Sasano

Sci Rep. 2021; 11: 589. Published online 2021 Jan 12. doi: 10.1038/s41598-020-80668-5

PMCID:: PMC7803739

Abstract Article PDF–2.9M

Select item 73995319.

A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance

Bridget M Stroup, Ronit Marom, Xiaohui Li, Chih-Wei Hsu, Cheng-Yen Chang, Luan D Truong, Brian Dawson, Ingo Grafe, Yuqing Chen, Ming-Ming Jiang, Denise Lanza, Jennie Rose Green, Qin Sun, J P Barrish, Safa Ani, Audrey E Christiansen, John R Seavitt, Mary E Dickinson, Farrah Kheradmand, Jason D Heaney, Brendan Lee, Lindsay C Burrage

Hum Mol Genet. 2020 Aug 3; 29(13): 2171–2184. Published online 2020 Jun 5. doi: 10.1093/hmg/ddaa107

PMCID:: PMC7399531

Abstract Article PDF–1.2M

Select item 693340910.

y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance

Bianca Maria Rotoli, Amelia Barilli, Rossana Visigalli, Francesca Ferrari, Valeria Dall’Asta

J Cell Mol Med. 2020 Jan; 24(1): 921–929. Published online 2019 Nov 9. doi: 10.1111/jcmm.14801

PMCID:: PMC6933409

Abstract Article PDF–533K

Select item 583304611.

Identification of placental nutrient transporters associated with intrauterine growth restriction and pre-eclampsia

Xiao Huang, Pascale Anderle, Lu Hostettler, Marc U. Baumann, Daniel V. Surbek, Edgar C. Ontsouka, Christiane Albrecht

BMC Genomics. 2018; 19: 173. Published online 2018 Mar 2. doi: 10.1186/s12864-018-4518-z

PMCID:: PMC5833046

Abstract Article PDF–1.7M

Select item 117110112.

Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family.

R Pfeiffer, G Rossier, B Spindler, C Meier, L Kühn, F Verrey

EMBO J. 1999 Jan 4; 18(1): 49–57. doi: 10.1093/emboj/18.1.49

PMCID:: PMC1171101

Summary PDF–580K

Select item 135127713.

Metabolic activation-related CD147-CD98 complex

Daosong Xu, Martin E. Hemler

Mol Cell Proteomics. Author manuscript; available in PMC 2006 Jan 26.

Published in final edited form as: Mol Cell Proteomics. 2005 Aug; 4(8): 1061–1071. Published online 2005 May 18. doi: 10.1074/mcp.M400207-MCP200

PMCID:: PMC1351277

Abstract Article PDF–424K

Select item 692775414.

Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC

Hao Zeng, Johnny Castillo-Cabrera, Mika Manser, Bo Lu, Zinger Yang, Vaik Strande, Damien Begue, Raffaella Zamponi, Shumei Qiu, Frederic Sigoillot, Qiong Wang, Alicia Lindeman, John S Reece-Hoyes, Carsten Russ, Debora Bonenfant, Xiaomo Jiang, Youzhen Wang, Feng Cong

eLife. 2019; 8: e50223. Published online 2019 Nov 19. doi: 10.7554/eLife.50223

PMCID:: PMC6927754

Abstract Article PDF–5.1M

Select item 895155615.

A BioID-Derived Proximity Interactome for SARS-CoV-2 Proteins

Danielle G. May, Laura Martin-Sancho, Valesca Anschau, Sophie Liu, Rachel J. Chrisopulos, Kelsey L. Scott, Charles T. Halfmann, Ramon Díaz Peña, Dexter Pratt, Alexandre R. Campos, Kyle J. Roux

Viruses. 2022 Mar; 14(3): 611. Published online 2022 Mar 15. doi: 10.3390/v14030611

PMCID:: PMC8951556

Abstract Article PDF–4.4M

Select item 488219016.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Abstract Article PDF–1.9M

Select item 677813717.

The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis

Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino

Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9

PMCID:: PMC6778137

Abstract Article PDF–7.8M

Select item 289646418.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Abstract Article PDF–2.4M

Select item 135612919.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Abstract Article PDF–438K

Select item 52892820.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

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