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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 68501253.

ANXA10 induction by interaction with tumor‐associated macrophages promotes the growth of esophageal squamous cell carcinoma

Himiko Kodaira, Yu‐ichiro Koma, Masayoshi Hosono, Nobuhide Higashino, Kazuki Suemune, Mari Nishio, Manabu Shigeoka, Hiroshi Yokozaki

Pathol Int. 2019 Mar; 69(3): 135–147. Published online 2019 Feb 13. doi: 10.1111/pin.12771

PMCID:: PMC6850125

Abstract Article PDF–1.7M

Select item 68246304.

Particulate Matter-Induced Aryl Hydrocarbon Receptor Regulates Autophagy in Keratinocytes

Hye sung Jang, Ji eun Lee, Cheol hwan Myung, Jong il Park, Chan song Jo, Jae Sung Hwang

Biomol Ther (Seoul) 2019 Nov; 27(6): 570–576. Published online 2019 Apr 11. doi: 10.4062/biomolther.2019.025

PMCID:: PMC6824630

Abstract Article PDF–1.2M

Select item 67855285.

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 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

Abstract 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

Abstract Article PDF–1.4M

Select item 67267378.

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

Christa E. Flück, Laura Audí, Mónica Fernández-Cancio, Kay-Sara Sauter, Idoia Martinez de LaPiscina, Luis Castaño, Isabel Esteva, Núria Camats

Front Genet. 2019; 10: 746. Published online 2019 Aug 29. doi: 10.3389/fgene.2019.00746

PMCID:: PMC6726737

Abstract Article PDF–1.6M

Select item 67092449.

Association between CYP1A1 rs4646903 T > C genetic variations and male infertility risk: A meta-analysis

DeHong Cao, ZhengJu Ren, DongLiang Lu, LiangRen Liu, Peng Xu, Qin Zhang, Qiang Wei

Medicine (Baltimore) 2019 Aug; 98(31): e16543. Published online 2019 Aug 2. doi: 10.1097/MD.0000000000016543

Correction in:: Medicine (Baltimore). 2019 Aug; 98(35): e17084.

PMCID:: PMC6709244

Abstract Article PDF–1.1M

Select item 670268710.

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 668812411.

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 667810312.

E-cigarette Aerosol Condensate Enhances Metabolism of Benzo(a)pyrene to Genotoxic Products, and Induces CYP1A1 and CYP1B1, Likely by Activation of the Aryl Hydrocarbon Receptor

Yuan-Wan Sun, Wieslawa Kosinska, Joseph B. Guttenplan

Int J Environ Res Public Health. 2019 Jul; 16(14): 2468. Published online 2019 Jul 11. doi: 10.3390/ijerph16142468

PMCID:: PMC6678103

Abstract Article PDF–1.4M

Select item 662514713.

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 643870314.

Comparing the effects of vitamin E tocotrienol-rich fraction supplementation and α-tocopherol supplementation on gene expression in healthy older adults

Siti Madiani Abdul Ghani, Jo Aan Goon, Nor Helwa Ezzah Nor Azman, Siti Nor Asyikin Zakaria, Zalina Hamid, Wan Zurinah Wan Ngah

Clinics (Sao Paulo) 2019; 74: e688. Published online 2019 Feb 27. doi: 10.6061/clinics/2019/e688

PMCID:: PMC6438703

Abstract Article PDF–849K

Select item 636336115.

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