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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 69950482.

Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)

Maryam Eghbali, Maryam Abiri, Saeed Talebi, Zahra Noroozi, Marjan Shakiba, Parastoo Rostami, Hosein Alimadadi, Mehri Najafi, Fatemeh Yazarlou, Ali Rabbani, Mohammad Hossein Modarressi

Orphanet J Rare Dis. 2020; 15: 35. Published online 2020 Jan 31. doi: 10.1186/s13023-019-1266-3

PMCID:: PMC6995048

Abstract Article PDF–1.5M

Select item 69905243.

Pattern of nucleotide variants of TP53 and their correlation with the expression of p53 and its downstream proteins in a Sri Lankan cohort of breast and colorectal cancer patients

Vahinipriya Manoharan, Eric Hamilton Karunanayake, Kamani Hemamala Tennekoon, Sumadee De Silva, Ahamed Ilyas Ahamed Imthikab, Kanishka De Silva, Preethika Angunawela, Sameera Vishwakula, John Lunec

BMC Cancer. 2020; 20: 72. Published online 2020 Jan 30. doi: 10.1186/s12885-020-6573-5

PMCID:: PMC6990524

Abstract Article PDF–1.8M

Select item 69394014.

IRF1 Negatively Regulates Oncogenic KPNA2 Expression Under Growth Stimulation and Hypoxia in Lung Cancer Cells

Jie-Xin Huang, Yi-Cheng Wu, Ya-Yun Cheng, Chih-Liang Wang, Chia-Jung Yu

Onco Targets Ther. 2019; 12: 11475–11486. Published online 2019 Dec 27. doi: 10.2147/OTT.S221832

PMCID:: PMC6939401

Abstract Article PDF–3.7M

Select item 68383905.

Accumulation of mitochondrial 7S DNA in idiopathic and LRRK2 associated Parkinson's disease

Petar Podlesniy, Margalida Puigròs, Núria Serra, Rubén Fernández-Santiago, Mario Ezquerra, Eduardo Tolosa, Ramon Trullas

EBioMedicine. 2019 Oct; 48: 554–567. Published online 2019 Oct 17. doi: 10.1016/j.ebiom.2019.09.015

PMCID:: PMC6838390

Abstract Article PDF–2.9M

Select item 68321106.

Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta

Lulu Li, Yixuan Cao, Feiyue Zhao, Bin Mao, Xiuzhi Ren, Yanzhou Wang, Yun Guan, Yi You, Shan Li, Tao Yang, Xiuli Zhao

Front Genet. 2019; 10: 979. Published online 2019 Oct 18. doi: 10.3389/fgene.2019.00979

PMCID:: PMC6832110

Abstract Article PDF–5.1M

Select item 68258607.

Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients

Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Malu Bettio Soares, Tatiele Nalin, Erlane Marques Ribeiro, Carlos Eduardo Steiner, Eugênia Ribeiro Valadares, Gilda Porta, Carolina Fishinger Moura de Souza, Ida Vanessa Doederlein Schwartz

Mol Genet Genomic Med. 2019 Nov; 7(11): e877. Published online 2019 Sep 11. doi: 10.1002/mgg3.877

PMCID:: PMC6825860

Abstract Article PDF–522K

Select item 67551728.

Synergistic effect of STAT3-targeted small interfering RNA and AZD0530 against glioblastoma in vitro and in vivo

Qingjun Liu, Leibo Wang, David Li, Jingxia Zhao, Shen Chen, Jialin Li

Mol Med Rep. 2019 Oct; 20(4): 3625–3632. Published online 2019 Aug 21. doi: 10.3892/mmr.2019.10596

PMCID:: PMC6755172

Abstract Article PDF–796K

Select item 67323209.

Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1

Linlin Chen, Feng Xue, Jia Xu, Jinwei He, Wenzhen Fu, Zhenlin Zhang, Qinglin Kang

Mol Genet Genomic Med. 2019 Sep; 7(9): e904. Published online 2019 Jul 25. doi: 10.1002/mgg3.904

PMCID:: PMC6732320

Abstract Article PDF–1.1M

Select item 672739110.

A cross-sectional study on factors associated with hypertension and genetic polymorphisms of renin-angiotensin-aldosterone system in Chinese hui pilgrims to hajj

Yinxia Zhang, Fangfang Shi, Zhanbiao Yu, Aimin Yang, Maolan Zeng, Jiaoyue Wang, Haiping Yin, Benzhong Zhang, Xiao Ma

BMC Public Health. 2019; 19: 1223. Published online 2019 Sep 4. doi: 10.1186/s12889-019-7357-1

PMCID:: PMC6727391

Abstract Article PDF–1.7M

Select item 662503011.

TFAP2C increases cell proliferation by downregulating GADD45B and PMAIP1 in non-small cell lung cancer cells

Hyunhee Do, Dain Kim, JiHoon Kang, Beomseok Son, Danbi Seo, HyeSook Youn, BuHyun Youn, Wanyeon Kim

Biol Res. 2019; 52: 35. Published online 2019 Jul 11. doi: 10.1186/s40659-019-0244-5

PMCID:: PMC6625030

Abstract Article PDF–2.1M

Select item 659184312.

Long non-coding RNA HOXB-AS3 promotes myeloid cell proliferation and its higher expression is an adverse prognostic marker in patients with acute myeloid leukemia and myelodysplastic syndrome

Huai-Hsuan Huang, Fei-Yun Chen, Wen-Chien Chou, Hsin-An Hou, Bor-Sheng Ko, Chien-Ting Lin, Jih-Luh Tang, Chi-Cheng Li, Ming Yao, Woei Tsay, Szu-Chun Hsu, Shang-Ju Wu, Chien-Yuan Chen, Shang-Yi Huang, Mei-Hsuan Tseng, Hwei-Fang Tien, Ruey-Hwa Chen

BMC Cancer. 2019; 19: 617. Published online 2019 Jun 24. doi: 10.1186/s12885-019-5822-y

PMCID:: PMC6591843

Abstract Article PDF–2.1M

Select item 654121913.

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Giovanna Mantovani, Murat Bastepe, David Monk, Luisa de Sanctis, Susanne Thiele, Alessia Usardi, S. Faisal Ahmed, Roberto Bufo, Timothée Choplin, Gianpaolo De Filippo, Guillemette Devernois, Thomas Eggermann, Francesca M. Elli, Kathleen Freson, Aurora García Ramirez, Emily L. Germain-Lee, Lionel Groussin, Neveen Hamdy, Patrick Hanna, Olaf Hiort, Harald Jüppner, Peter Kamenický, Nina Knight, Marie-Laure Kottler, Elvire Le Norcy, Beatriz Lecumberri, Michael A. Levine, Outi Mäkitie, Regina Martin, Gabriel Ángel Martos-Moreno, Masanori Minagawa, Philip Murray, Arrate Pereda, Robert Pignolo, Lars Rejnmark, Rebecca Rodado, Anya Rothenbuhler, Vrinda Saraff, Ashley H. Shoemaker, Eileen M. Shore, Caroline Silve, Serap Turan, Philip Woods, M. Carola Zillikens, Guiomar Perez de Nanclares, Agnès Linglart

Nat Rev Endocrinol. 2018; 14(8): 476–500. Published online 2018 Jun 29. doi: 10.1038/s41574-018-0042-0

PMCID:: PMC6541219

Abstract Article PDF–7.6M

Select item 652890114.

Emerging cellular functions of the lipid metabolizing enzyme 15‐Lipoxygenase‐1

Melis Çolakoğlu, Sinem Tunçer, Sreeparna Banerjee

Cell Prolif. 2018 Oct; 51(5): e12472. Published online 2018 Jul 30. doi: 10.1111/cpr.12472

PMCID:: PMC6528901

Abstract Article PDF–912K

Select item 652821415.

A patient with glycogen storage disease type Ia combined with chronic hepatitis B infection: a case report

Wenying Wang, Rentao Yu, Wenting Tan, Yunjie Dan, Guohong Deng, Jie Xia

BMC Med Genet. 2019; 20: 85. Published online 2019 May 20. doi: 10.1186/s12881-019-0816-9

PMCID:: PMC6528214

Abstract Article PDF–1.6M

Select item 649847816.

Mitochondrial autoimmunity and MNRR1 in breast carcinogenesis

Siddhesh Aras, Marie-Claire Maroun, Yeohan Song, Sudeshna Bandyopadhyay, Azadeh Stark, Zeng-Quan Yang, Michael P. Long, Lawrence I. Grossman, Félix Fernández-Madrid

BMC Cancer. 2019; 19: 411. Published online 2019 May 2. doi: 10.1186/s12885-019-5575-7

PMCID:: PMC6498478

Abstract Article PDF–1.4M

Select item 649641517.

Inhibition of cell proliferation, migration and invasion by a glioma‐targeted fusion protein combining the p53 C terminus and MDM2‐binding domain

Jiawen Yu, Meihua Guo, Ting Wang, Xiang Li, Dan Wang, Xinying Wang, Qian Zhang, Liang Wang, Yang Zhang, Chunhui Zhao, Bin Feng

Cell Prolif. 2016 Feb; 49(1): 79–89. Published online 2016 Feb 3. doi: 10.1111/cpr.12238

PMCID:: PMC6496415

Abstract Article PDF–2.7M

Select item 645423818.

A Novel Mutation in a Newborn Baby Leading to Glycogen Storage Disease Type Ia

S Dorum, O Gorukmez

Balkan J Med Genet. 2018 Dec; 21(2): 55–57. Published online 2018 Dec 31. doi: 10.2478/bjmg-2018-0018

PMCID:: PMC6454238

Abstract Article PDF–362K

Select item 644238419.

Experimental and pan-cancer genome analyses reveal widespread contribution of acrylamide exposure to carcinogenesis in humans

Maria Zhivagui, Alvin W.T. Ng, Maude Ardin, Mona I. Churchwell, Manuraj Pandey, Claire Renard, Stephanie Villar, Vincent Cahais, Alexis Robitaille, Liacine Bouaoun, Adriana Heguy, Kathryn Z. Guyton, Martha R. Stampfer, James McKay, Monica Hollstein, Magali Olivier, Steven G. Rozen, Frederick A. Beland, Michael Korenjak, Jiri Zavadil

Genome Res. 2019 Apr; 29(4): 521–531. doi: 10.1101/gr.242453.118

PMCID:: PMC6442384

Abstract Article PDF–3.7M

Select item 642812620.

Increased expression levels of Syntaxin 1A and Synaptobrevin 2/Vesicle-Associated Membrane Protein-2 are associated with the progression of bladder cancer

Sadaf Azad Raja, Seher Abbas, Syed Tahir Abbas Shah, Aamira Tariq, Nazia Bibi, Arzu Yousuf, Athar Khawaja, Muhammad Nawaz, Arshad Mehmood, Muhammad Jadoon Khan, Alamdar Hussain

Genet Mol Biol. 2019 Jan-Mar; 42(1): 40–47. Published online 2019 Jan 21. doi: 10.1590/1678-4685-GMB-2017-0339

PMCID:: PMC6428126

Abstract Article PDF–1.4M

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