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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

Abstract 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

Abstract Article PDF–991K

Select item 67855283.

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

Abstract Article PDF–830K

Select item 67322844.

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

Abstract Article PDF–575K

Select item 67322695.

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

Abstract Article PDF–1.4M

Select item 67215876.

Long Non-Coding RNAs Target Pathogenetically Relevant Genes and Pathways in Rheumatoid Arthritis

Marzia Dolcino, Elisa Tinazzi, Antonio Puccetti, Claudio Lunardi

Cells. 2019 Aug; 8(8): 816. Published online 2019 Aug 2. doi: 10.3390/cells8080816

PMCID:: PMC6721587

Abstract Article PDF–1.0M

Select item 67026877.

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

Abstract Article PDF–1.3M

Select item 66881248.

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

Abstract Article PDF–5.7M

Select item 66251479.

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

Abstract Article PDF–1.0M

Select item 654907210.

Gene expression alterations of human liver cancer cells following borax exposure

Lun Wu, Ying Wei, Wen-Bo Zhou, You-Shun Zhang, Qin-Hua Chen, Ming-Xing Liu, Zheng-Peng Zhu, Jiao Zhou, Li-Hua Yang, Hong-Mei Wang, Guang-Min Wei, Sheng Wang, Zhi-Gang Tang

Oncol Rep. 2019 Jul; 42(1): 115–130. Published online 2019 May 23. doi: 10.3892/or.2019.7169

PMCID:: PMC6549072

Abstract Article PDF–852K

Select item 654655611.

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Hui Guo, Michael H. Duyzend, Bradley P. Coe, Carl Baker, Kendra Hoekzema, Jennifer Gerdts, Tychele N. Turner, Michael C. Zody, Jennifer S. Beighley, Shwetha C. Murali, Bradley J. Nelson, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Raphael A. Bernier, Evan E. Eichler

Genet Med. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Genet Med. 2019 Jul; 21(7): 1611–1620. Published online 2018 Dec 3. doi: 10.1038/s41436-018-0380-2

PMCID:: PMC6546556

Abstract Article PDF–1.0M

Select item 642291112.

Tetrac and NDAT Induce Anti-proliferation via Integrin αvβ3 in Colorectal Cancers With Different K-RAS Status

Yu-Tang Chin, Zong-Rong He, Chi-Long Chen, Hsiao-Ching Chu, Yih Ho, Po-Yu Su, Yu-Chen S. H. Yang, Kuan Wang, Ya-Jung Shih, Yi-Ru Chen, Jens Z. Pedersen, Sandra Incerpi, André Wendindondé Nana, Heng-Yuan Tang, Hung-Yun Lin, Shaker A. Mousa, Paul J. Davis, Jacqueline Whang-Peng

Front Endocrinol (Lausanne) 2019; 10: 130. Published online 2019 Mar 12. doi: 10.3389/fendo.2019.00130

Correction in:: Front Endocrinol (Lausanne). 2019; 10: 241.

PMCID:: PMC6422911

Abstract Article PDF–4.4M

Select item 640850213.

Deciphering the complex role of thrombospondin-1 in glioblastoma development

Thomas Daubon, Céline Léon, Kim Clarke, Laetitia Andrique, Laura Salabert, Elodie Darbo, Raphael Pineau, Sylvaine Guérit, Marlène Maitre, Stéphane Dedieu, Albin Jeanne, Sabine Bailly, Jean-Jacques Feige, Hrvoje Miletic, Marco Rossi, Lorenzo Bello, Francesco Falciani, Rolf Bjerkvig, Andréas Bikfalvi

Nat Commun. 2019; 10: 1146. Published online 2019 Mar 8. doi: 10.1038/s41467-019-08480-y

PMCID:: PMC6408502

Abstract Article PDF–2.9M

Select item 636336114.

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