Full text in PMC (nucleotide) for Gene (Select 1291) - PMC

Anna M. McDermott, Samuel Herberg, Devon E. Mason, Joseph M. Collins, Hope B. Pearson, James H. Dawahare, Rui Tang, Amit N. Patwa, Mark W. Grinstaff, Daniel J. Kelly, Eben Alsberg, Joel D. Boerckel

Sci Transl Med. Author manuscript; available in PMC 2020 Jan 14.

Published in final edited form as: Sci Transl Med. 2019 Jun 5; 11(495): eaav7756. doi: 10.1126/scitranslmed.aav7756

PMCID:: PMC6959418

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Select item 68499454.

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants

Xi Luo, Simone Feurstein, Shruthi Mohan, Christopher C. Porter, Sarah A. Jackson, Sioban Keel, Michael Chicka, Anna L. Brown, Chimene Kesserwan, Anupriya Agarwal, Minjie Luo, Zejuan Li, Justyne E. Ross, Panagiotis Baliakas, Daniel Pineda-Alvarez, Courtney D. DiNardo, Alison A. Bertuch, Nikita Mehta, Tom Vulliamy, Ying Wang, Kim E. Nichols, Luca Malcovati, Michael F. Walsh, Lesley H. Rawlings, Shannon K. McWeeney, Jean Soulier, Anna Raimbault, Mark J. Routbort, Liying Zhang, Gabriella Ryan, Nancy A. Speck, Sharon E. Plon, David Wu, Lucy A. Godley

Blood Adv. 2019 Oct 22; 3(20): 2962–2979. Published online 2019 Oct 16. doi: 10.1182/bloodadvances.2019000644

PMCID:: PMC6849945

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Select item 66625945.

Sequencing Primate Genomes: What Have We Learned?

Tomas Marques-Bonet, Oliver A. Ryder, Evan E. Eichler

Annu Rev Genomics Hum Genet. Author manuscript; available in PMC 2019 Jul 29.

Published in final edited form as: Annu Rev Genomics Hum Genet. 2009; 10: 355–386. doi: 10.1146/annurev.genom.9.081307.164420

PMCID:: PMC6662594

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Select item 66159186.

COL6A1 promotes metastasis and predicts poor prognosis in patients with pancreatic cancer

Kwabena Gyabaah Owusu-Ansah, Guangyuan Song, Ronggao Chen, Muhammad Ibrahim Alhadi Edoo, Jun Li, Bingjie Chen, Jian Wu, Lin Zhou, Haiyang Xie, Donghai Jiang, Shusen Zheng

Int J Oncol. 2019 Aug; 55(2): 391–404. Published online 2019 Jun 14. doi: 10.3892/ijo.2019.4825

PMCID:: PMC6615918

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Select item 65441257.

Identify CRNDE and LINC00152 as the key lncRNAs in age-related degeneration of articular cartilage through comprehensive and integrative analysis

Pengfei Hu, Fangfang Sun, Jisheng Ran, Lidong Wu

PeerJ. 2019; 7: e7024. Published online 2019 May 28. doi: 10.7717/peerj.7024

PMCID:: PMC6544125

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Select item 65394818.

Molecular Signature of Prospero Homeobox 1 (PROX1) in Follicular Thyroid Carcinoma Cells

Magdalena Rudzińska, Małgorzata Grzanka, Anna Stachurska, Michał Mikula, Katarzyna Paczkowska, Tomasz Stępień, Agnieszka Paziewska, Jerzy Ostrowski, Barbara Czarnocka

Int J Mol Sci. 2019 May; 20(9): 2212. Published online 2019 May 5. doi: 10.3390/ijms20092212

PMCID:: PMC6539481

Article PDF–7.3M

Select item 65030139.

Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China

Chan Zhang, Weiwei Guo, Yujing Cheng, Qi Li, Xin Yang, Run Dai, Linhao Zhu, Wanlu Chen

Mol Genet Genomic Med. 2019 May; 7(5): e574. Published online 2019 Apr 5. doi: 10.1002/mgg3.574

PMCID:: PMC6503013

Article PDF–1.2M

Select item 649733910.

Differential Phenotypes in Perivascular Adipose Tissue Surrounding the Internal Thoracic Artery and Diseased Coronary Artery

Ryosuke Numaguchi, Masato Furuhashi, Megumi Matsumoto, Hiroshi Sato, Yosuke Yanase, Yosuke Kuroda, Ryo Harada, Toshiro Ito, Yukimura Higashiura, Masayuki Koyama, Marenao Tanaka, Norihito Moniwa, Masanori Nakamura, Hirosato Doi, Tetsuji Miura, Nobuyoshi Kawaharada

J Am Heart Assoc. 2019 Jan 22; 8(2): e011147. Published online 2019 Jan 13. doi: 10.1161/JAHA.118.011147

PMCID:: PMC6497339

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Select item 648306311.

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

Véronique Bolduc, A. Reghan Foley, Herimela Solomon-Degefa, Apurva Sarathy, Sandra Donkervoort, Ying Hu, Grace S. Chen, Katherine Sizov, Matthew Nalls, Haiyan Zhou, Sara Aguti, Beryl B. Cummings, Monkol Lek, Taru Tukiainen, Jamie L. Marshall, Oded Regev, Dina Marek-Yagel, Anna Sarkozy, Russell J. Butterfield, Cristina Jou, Cecilia Jimenez-Mallebrera, Yan Li, Corine Gartioux, Kamel Mamchaoui, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Eric Hanssen, the COL6A1 Intron 11 Study Group, Steve D. Wilton, Shireen R. Lamandé, Daniel G. MacArthur, Raimund Wagener, Francesco Muntoni, Carsten G. Bönnemann

JCI Insight. 2019 Mar 21; 4(6): e124403. Published online 2019 Mar 21. doi: 10.1172/jci.insight.124403

PMCID:: PMC6483063

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Select item 632764112.

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

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Select item 630324813.

A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21

Laïla Allach El Khattabi, Stéphanie Backer, Amélie Pinard, Marie-Noëlle Dieudonné, Vassilis Tsatsaris, Daniel Vaiman, Luisa Dandolo, Evelyne Bloch-Gallego, Hélène Jammes, Sandrine Barbaux

Eur J Hum Genet. 2019 Jan; 27(1): 49–60. Published online 2018 Sep 11. doi: 10.1038/s41431-018-0267-3

PMCID:: PMC6303248

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Select item 629311414.

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan

Madhurima Saha, Hemakumar M. Reddy, Mustafa A. Salih, Elicia Estrella, Michael D. Jones, Satomi Mitsuhashi, Kyung-Ah Cho, Silveli Suzuki-Hatano, Skylar A. Rizzo, Muddathir H. Hamad, Maowia M. Mukhtar, Ahlam A. Hamed, Maha A. Elseed, Monkol Lek, Elise Valkanas, Daniel G. MacArthur, Louis M. Kunkel, Christina A. Pacak, Isabelle Draper, Peter B. Kang

Physiol Genomics. 2018 Nov 1; 50(11): 929–939. Published online 2018 Aug 31. doi: 10.1152/physiolgenomics.00036.2018

PMCID:: PMC6293114

Article

Select item 629289415.

The short-sequence design of DNA and its involvement in the 3-D structure of the genome

Guillermo Lamolle, Victor Sabbia, Héctor Musto, Giorgio Bernardi

Sci Rep. 2018; 8: 17820. Published online 2018 Dec 13. doi: 10.1038/s41598-018-35864-9

PMCID:: PMC6292894

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Select item 624559716.

SWIFOLD: Smith-Waterman implementation on FPGA with OpenCL for long DNA sequences

Enzo Rucci, Carlos Garcia, Guillermo Botella, Armando De Giusti, Marcelo Naiouf, Manuel Prieto-Matias

BMC Syst Biol. 2018; 12(Suppl 5): 96. Published online 2018 Nov 20. doi: 10.1186/s12918-018-0614-6

PMCID:: PMC6245597

Article PDF–746K

Select item 612930817.

DeepSimulator: a deep simulator for Nanopore sequencing

Yu Li, Renmin Han, Chongwei Bi, Mo Li, Sheng Wang, Xin Gao

Bioinformatics. 2018 Sep 1; 34(17): 2899–2908. Published online 2018 Apr 6. doi: 10.1093/bioinformatics/bty223

PMCID:: PMC6129308

Article PDF–615K

Select item 598317418.

Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1

Erica Sanford, Kelly Watkins, Shareef Nahas, Michael Gottschalk, Nicole G. Coufal, Lauge Farnaes, David Dimmock, Stephen F. Kingsmore, on behalf of the RCIGM Investigators

Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002485. doi: 10.1101/mcs.a002485

PMCID:: PMC5983174

Article PDF–830K

Select item 595259419.

Association of IL17RC and COL6A1 genetic polymorphisms with susceptibility to ossification of the thoracic posterior longitudinal ligament in Chinese patients

Peng Wang, Xiao Liu, Bin Zhu, Yunlong Ma, Lei Yong, Ze Teng, Chen Liang, Guanping He, Xiaoguang Liu

J Orthop Surg Res. 2018; 13: 109. Published online 2018 May 15. doi: 10.1186/s13018-018-0817-y

PMCID:: PMC5952594

Article PDF–407K

Select item 594910720.

Evaluation of extraction methods for methylated cell-free fetal DNA from maternal plasma

Ji Hyae Lim, Bom Yi Lee, Jin Woo Kim, You Jung Han, Jin Hoon Chung, Min Hyoung Kim, Dong Wook Kwak, So Yeon Park, Hee Back Choi, Hyun Mee Ryu

J Assist Reprod Genet. 2018 Apr; 35(4): 637–641. Published online 2018 Feb 8. doi: 10.1007/s10815-018-1114-8

PMCID:: PMC5949107

Article PDF–353K

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