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Select item 70271951.

Systematic Nucleotide Exchange Analysis of ESTs From the Human Cancer Genome Project Report: Origins of 347 Unknown ESTs Indicate Putative Transcription of Non-Coding Genomic Regions

Ganesh Warthi, Pierre-Edouard Fournier, Hervé Seligmann

Front Genet. 2020; 11: 42. Published online 2020 Feb 11. doi: 10.3389/fgene.2020.00042

PMCID:: PMC7027195

Article PDF–1.2M

Select item 68889442.

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh

Orphanet J Rare Dis. 2019; 14: 277. Published online 2019 Dec 2. doi: 10.1186/s13023-019-1249-4

PMCID:: PMC6888944

Article PDF–991K

Select item 67963423.

MEIS2C and MEIS2D promote tumor progression via Wnt/β-catenin and hippo/YAP signaling in hepatocellular carcinoma

Lei Guan, Ting Li, Nanping Ai, Wei Wang, Bing He, Yanxia Bai, Zhaocai Yu, Mingyue Li, Shanshan Dong, Qingge Zhu, Xiao Xiao Ding, Shiming Zhang, Ming li, Guangbo Tang, Xiaochun Xia, Jing Zhao, Song lin, Shi yao, Lei zhang, Geng chen, Fang-E Liu, Xinyuan Li, Huqin Zhang

J Exp Clin Cancer Res. 2019; 38: 417. Published online 2019 Oct 17. doi: 10.1186/s13046-019-1417-3

PMCID:: PMC6796342

Article PDF–2.2M

Select item 67855284.

Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes

Muhammad M. Rahman, KM Furkan Uddin, Nesreen K. Al Jezawi, Noushad Karuvantevida, Hosneara Akter, Nushrat J. Dity, Md. Ashiquir Rahaman, Maksuda Begum, Md. Atikur Rahaman, Md. Abdul Baqui, Zeena Salwa, Serajul Islam, Marc Woodbury‐Smith, Mohammed Basiruzzaman, Mohammed Uddin

Mol Genet Genomic Med. 2019 Oct; 7(10): e00954. Published online 2019 Sep 1. doi: 10.1002/mgg3.954

PMCID:: PMC6785528

Article PDF–830K

Select item 67426465.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

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Select item 67322846.

Impact of CHRNA5 polymorphisms on the risk of schizophrenia in the Chinese Han population

Dafei Zhan, Qiankun Yao, Shaojian Fu, Xianglai Liu, Jun Zhou, Daqiang Chen, Chuanlong Yu

Mol Genet Genomic Med. 2019 Sep; 7(9): e869. Published online 2019 Jul 24. doi: 10.1002/mgg3.869

PMCID:: PMC6732284

Article PDF–575K

Select item 67322697.

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect

Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuk, John Hicks, Roman Polishchuk, Carlos A. Bacino, Nicola Brunetti‐Pierri

Mol Genet Genomic Med. 2019 Sep; 7(9): e844. Published online 2019 Jul 27. doi: 10.1002/mgg3.844

PMCID:: PMC6732269

Article PDF–1.4M

Select item 67026878.

Different gene expression profiles in subcutaneous & visceral adipose tissues from Mexican patients with obesity

María D. Ronquillo, Alla Mellnyk, Noemí Cárdenas-Rodríguez, Emmanuel Martínez, David A. Comoto, Liliana Carmona-Aparicio, Norma E. Herrera, Eleazar Lara, Armando Pereyra, Esaú Floriano-Sánchez

Indian J Med Res. 2019 May; 149(5): 616–626. doi: 10.4103/ijmr.IJMR_1165_17

PMCID:: PMC6702687

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Select item 66881249.

Identification of Two Missense Mutations in DUOX1 (p.R1307Q) and DUOXA1 (p.R56W) That Can Cause Congenital Hypothyroidism Through Impairing H₂O₂ Generation

Shiguo Liu, Wenxiu Han, Yucui Zang, Hongwei Zang, Fang Wang, Pei Jiang, Hongwei Wei, Xiangju Liu, Yangang Wang, Xu Ma, Yinlin Ge

Front Endocrinol (Lausanne) 2019; 10: 526. Published online 2019 Aug 2. doi: 10.3389/fendo.2019.00526

PMCID:: PMC6688124

Article PDF–5.7M

Select item 662514710.

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism

Ye Lin, Xihui Chen, Ying Yang, Fengyu Che, Sijia Zhang, Lijuan Yuan, Yuanming Wu

Mol Genet Genomic Med. 2019 Jul; 7(7): e00687. Published online 2019 Jun 14. doi: 10.1002/mgg3.687

PMCID:: PMC6625147

Article PDF–1.0M

Select item 654921011.

MEIS2 promotes cell migration and invasion in colorectal cancer

Ziang Wan, Rui Chai, Hang Yuan, Bingchen Chen, Quanjin Dong, Boan Zheng, Xiaozhou Mou, Wensheng Pan, Yifeng Tu, Qing Yang, Shiliang Tu, Xinye Hu

Oncol Rep. 2019 Jul; 42(1): 213–223. Published online 2019 May 15. doi: 10.3892/or.2019.7161

PMCID:: PMC6549210

Article PDF–1.1M

Select item 636336112.

Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region

Delanie B. Macedo, Monica M. França, Luciana R. Montenegro, Marina Cunha-Silva, Danielle S. Best, Ana Paula Abreu, Ursula B. Kaiser, Berenice B. Mendonca, Alexander A.L. Jorge, Vinicius N. Brito, Ana Claudia Latronico

Neuroendocrinology. Author manuscript; available in PMC 2019 Feb 5.

Published in final edited form as: Neuroendocrinology. 2018; 107(2): 127–132. Published online 2018 May 15. doi: 10.1159/000490059

PMCID:: PMC6363361

Article PDF–471K

Select item 633684713.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Rosalind Verheije, Gabriel S. Kupchik, Bertrand Isidor, Hester Y. Kroes, Sally Ann Lynch, Lara Hawkes, Maja Hempel, Bruce D. Gelb, Jamal Ghoumid, Guylaine D’Amours, Kate Chandler, Christèle Dubourg, Sara Loddo, Zeynep Tümer, Charles Shaw-Smith, Mathilde Nizon, Michael Shevell, Evelien Van Hoof, Kwame Anyane-Yeboa, Gaetana Cerbone, Jill Clayton-Smith, Benjamin Cogné, Pierre Corre, Anniek Corveleyn, Marie De Borre, Tina Duelund Hjortshøj, Mélanie Fradin, Marc Gewillig, Elizabeth Goldmuntz, Greet Hens, Emmanuelle Lemyre, Hubert Journel, Usha Kini, Fanny Kortüm, Cedric Le Caignec, Antonio Novelli, Sylvie Odent, Florence Petit, Anya Revah-Politi, Nicholas Stong, Tim M. Strom, Ellen van Binsbergen, DDD study, Koenraad Devriendt, Jeroen Breckpot

Eur J Hum Genet. 2019 Feb; 27(2): 278–290. Published online 2018 Oct 5. doi: 10.1038/s41431-018-0281-5

PMCID:: PMC6336847

Article PDF–2.0M

Select item 632764114.

Identification of differentially expressed non-coding RNAs and mRNAs involved in Qi stagnation and blood stasis syndrome

Guang Chen, Jialiang Gao, Haoqiang He, Chao Liu, Yongmei Liu, Jun Li, Jie Wang

Exp Ther Med. 2019 Feb; 17(2): 1206–1223. Published online 2018 Dec 7. doi: 10.3892/etm.2018.7068

PMCID:: PMC6327641

Article PDF–3.7M

Select item 631182315.

Preserved Expression of Skin Neurotrophic Factors in Advanced Diabetic Neuropathy Does Not Lead to Neural Regeneration despite Pancreas and Kidney Transplantation

František Saudek, Monika Cahová, Terezie Havrdová, Klára Zacharovová, Helena Daňková, Luděk Voska, Věra Lánská, Nurcan Üçeyler, Claudia Sommer

J Diabetes Res. 2018; 2018: 2309108. Published online 2018 Dec 10. doi: 10.1155/2018/2309108

PMCID:: PMC6311823

Article PDF–914K

Select item 626085216.

EIF4A3-induced circular RNA MMP9 (circMMP9) acts as a sponge of miR-124 and promotes glioblastoma multiforme cell tumorigenesis

Renjie Wang, Sai Zhang, Xuyi Chen, Nan Li, Jianwei Li, Ruichao Jia, Yuanqing Pan, Haiqian Liang

Mol Cancer. 2018; 17: 166. Published online 2018 Nov 23. doi: 10.1186/s12943-018-0911-0

Correction in:: Mol Cancer. 2020; 19: 153.

PMCID:: PMC6260852

Article PDF–7.1M

Select item 619025617.

Integrated miRNA and mRNA expression profiling to identify mRNA targets of dysregulated miRNAs in pulmonary tuberculosis

Xing Zhang, Min Zhu, Xiaolong Hu

Epigenomics. 2018 Aug; 10(8): 1051–1069. Published online 2018 Jul 30. doi: 10.2217/epi-2018-0028

PMCID:: PMC6190256

Article PDF–3.9M

Select item 617617718.

Altered expression pattern of circular RNAs in metastatic oral mucosal melanoma

Houyu Ju, Liming Zhang, Lu Mao, Shuli Liu, Weiya Xia, Jingzhou Hu, Min Ruan, Guoxin Ren

Am J Cancer Res. 2018; 8(9): 1788–1800. Published online 2018 Sep 1.

PMCID:: PMC6176177

Article PDF–2.0M

Select item 616167319.

MiRNA-BD: an evidence-based bioinformatics model and software tool for microRNA biomarker discovery

Yuxin Lin, Wentao Wu, Zhandong Sun, Li Shen, Bairong Shen

RNA Biol. 2018; 15(8): 1093–1105. Published online 2018 Sep 17. doi: 10.1080/15476286.2018.1502590

PMCID:: PMC6161673

Article PDF–2.4M

Select item 616071320.

Incomplete methylation of a germ cell tumor (Seminoma) in a Prader‐Willi male

Talia Eldar‐Geva, Varda Gross‐Tsur, Harry J. Hirsch, Gheona Altarescu, Reeval Segal, Sharon Zeligson, Eliahu Golomb, Silvina Epsztejn‐Litman, Rachel Eiges

Mol Genet Genomic Med. 2018 Sep; 6(5): 811–818. Published online 2018 Jul 12. doi: 10.1002/mgg3.448

PMCID:: PMC6160713

Article PDF–3.7M

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