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Select item 70571081.

Over expression of METRN predicts poor clinical prognosis in colorectal cancer

Xin Xu, Chihao Zhang, Yan Xia, Jiwei Yu

Mol Genet Genomic Med. 2020 Mar; 8(3): e1102. Published online 2019 Dec 20. doi: 10.1002/mgg3.1102

PMCID:: PMC7057108

Abstract Article PDF–894K

Select item 70271952.

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 69957333.

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations

Qiang Lu, Liang Shang, Wo Tu Tian, Li Cao, Xue Zhang, Qing Liu

Ann Transl Med. 2020 Jan; 8(1): 8. doi: 10.21037/atm.2019.11.31

PMCID:: PMC6995733

Abstract Article PDF–1.1M

Select item 69782574.

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder

Lauren Cascio, Chin‐Fu Chen, Rini Pauly, Sujata Srikanth, Kelly Jones, Cindy D. Skinner, Roger E. Stevenson, Charles E. Schwartz, Luigi Boccuto

Mol Genet Genomic Med. 2020 Jan; 8(1): e1036. Published online 2019 Nov 7. doi: 10.1002/mgg3.1036

PMCID:: PMC6978257

Abstract Article PDF–826K

Select item 69619485.

Mitochondrial DNA variations and mitochondrial dysfunction in Fanconi anemia

Avani Solanki, Aruna Rajendran, Sheila Mohan, Revathy Raj, Babu Rao Vundinti

PLoS One. 2020; 15(1): e0227603. Published online 2020 Jan 15. doi: 10.1371/journal.pone.0227603

PMCID:: PMC6961948

Abstract Article PDF–772K

Select item 69592126.

Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels

Adela Chirita-Emandi, Nicoleta Andreescu, Cristian G. Zimbru, Paul Tutac, Smaranda Arghirescu, Margit Serban, Maria Puiu

Sci Rep. 2020; 10: 223. Published online 2020 Jan 14. doi: 10.1038/s41598-019-57080-9

PMCID:: PMC6959212

Abstract Article PDF–1.0M

Select item 69048737.

The Metabolite Repair Enzyme Phosphoglycolate Phosphatase Regulates Central Carbon Metabolism and Fosmidomycin Sensitivity in Plasmodium falciparum

Laure Dumont, Mark B. Richardson, Phillip van der Peet, Danushka S. Marapana, Tony Triglia, Matthew W. A. Dixon, Alan F. Cowman, Spencer J. Williams, Leann Tilley, Malcolm J. McConville, Simon A. Cobbold

mBio. 2019 Nov-Dec; 10(6): e02060-19. Published online 2019 Dec 10. doi: 10.1128/mBio.02060-19

PMCID:: PMC6904873

Abstract Article PDF–1003K

Select item 69014538.

Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels

Supanun Lauhasurayotin, Geoff D. Cuvelier, Robert J. Klaassen, Conrad V. Fernandez, Yves D. Pastore, Sharon Abish, Meera Rayar, MacGregor Steele, Lawrence Jardine, Vicky R. Breakey, Josee Brossard, Roona Sinha, Mariana Silva, Lisa Goodyear, Jeffrey H. Lipton, Bruno Michon, Catherine Corriveau-Bourque, Lillian Sung, Iren Shabanova, Hongbing Li, Bozana Zlateska, Santhosh Dhanraj, Michaela Cada, Stephen W. Scherer, Yigal Dror

NPJ Genom Med. 2019; 4: 30. Published online 2019 Dec 9. doi: 10.1038/s41525-019-0104-9

PMCID:: PMC6901453

Abstract Article PDF–3.3M

Select item 69002769.

CRISPR/Cas9 gene correction of HbH-CS thalassemia-induced pluripotent stem cells

Xie Yingjun, Xie Yuhuan, Chen Yuchang, Li Dongzhi, Wang Ding, Song Bing, Yang Yi, Lu Dian, Xue Yanting, Xiong Zeyu, Liu Nengqing, Chen Diyu, Sun Xiaofang

Ann Hematol. 2019; 98(12): 2661–2671. Published online 2019 Sep 9. doi: 10.1007/s00277-019-03763-2

PMCID:: PMC6900276

Abstract Article PDF–11M

Select item 687452510.

Rare variants in FANCA induce premature ovarian insufficiency

Xi Yang, Xiaojin Zhang, Jiao Jiao, Feng Zhang, Yuncheng Pan, Qiqi Wang, Qing Chen, Baozhu Cai, Shuyan Tang, Zixue Zhou, Siyuan Chen, Hao Yin, Wei Fu, Yang Luo, Da Li, Guoqing Li, Lingyue Shang, Jialing Yang, Li Jin, Qinghua Shi, Yanhua Wu

Hum Genet. 2019; 138(11): 1227–1236. Published online 2019 Sep 18. doi: 10.1007/s00439-019-02059-9

PMCID:: PMC6874525

Abstract Article PDF–1.4M

Select item 685629611.

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

Ana Fernández-Marmiesse, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Mª Socorro Pérez-Poyato, Ana Fontalba, Francisco Laranjeira, Sofia Quintans, Oana Moldovan, Blanca Felgueroso, Montserrat Rodríguez-Pedreira, Rogelio Simón, Ana Camacho, Pilar Quijada, Salvador Ibanez-Mico, Mª Rosario Domingno, Carmen Benito, Rocío Calvo, Antonia Pérez-Cejas, Mª Llanos Carrasco, Feliciano Ramos, Mª Luz Couce, Mª Luz Ruiz-Falcó, Luis Gutierrez-Solana, Margarita Martínez-Atienza

Front Neurosci. 2019; 13: 1135. Published online 2019 Nov 8. doi: 10.3389/fnins.2019.01135

PMCID:: PMC6856296

Abstract Article PDF–1.7M

Select item 681857612.

Hb I: A α‐globin chain variant causing unexpected HbA_1c results

Anping Xu, Jian Sun, Jie Li, Weidong Chen, Ruoyang Zheng, Zhonghou Han, Ling Ji

J Clin Lab Anal. 2019 Feb; 33(2): e22671. Published online 2018 Sep 17. doi: 10.1002/jcla.22671

PMCID:: PMC6818576

Abstract Article PDF–474K

Select item 680486413.

Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma

Vasiliki Panou, Meghana Gadiraju, Arthur Wolin, Caroline M. Weipert, Emily Skarda, Aliya N. Husain, Jyoti D. Patel, Buerkley Rose, Shannon R. Zhang, Madison Weatherly, Viswateja Nelakuditi, Amy Knight Johnson, Maria Helgeson, David Fischer, Arpita Desai, Nanna Sulai, Lauren Ritterhouse, Oluf D. Røe, Kiran K. Turaga, Dezheng Huo, Jeremy Segal, Sabah Kadri, Zejuan Li, Hedy L. Kindler, Jane E. Churpek

J Clin Oncol. 2018 Oct 1; 36(28): 2863–2871. Published online 2018 Aug 16. doi: 10.1200/JCO.2018.78.5204

PMCID:: PMC6804864

Abstract Article PDF–709K

Select item 672138514.

Anoctamin 3: A Possible Link between Cluster Headache and Ca²⁺ Signaling

Caroline Ran, Carmen Fourier, Donia Arafa, Franziska Liesecke, Christina Sjöstrand, Elisabet Waldenlind, Anna Steinberg, Andrea Carmine Belin

Brain Sci. 2019 Aug; 9(8): 184. Published online 2019 Jul 30. doi: 10.3390/brainsci9080184

PMCID:: PMC6721385

Abstract Article PDF–786K

Select item 670268715.

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 659828316.

Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins

Amira Jaballah-Gabteni, Haifa Tounsi, Maria Kabbage, Yosr Hamdi, Sahar Elouej, Ines Ben Ayed, Mouna Medhioub, Moufida Mahmoudi, Hamza Dallali, Hamza Yaiche, Nadia Ben Jemii, Afifa Maaloul, Najla Mezghani, Sonia Abdelhak, Lamine Hamzaoui, Mousaddak Azzouz, Samir Boubaker

J Transl Med. 2019; 17: 212. Published online 2019 Jun 27. doi: 10.1186/s12967-019-1961-9

PMCID:: PMC6598283

Abstract Article PDF–1.8M

Select item 653140817.

Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome

F. Zhong, H. Ying, W. Jia, X. Zhou, H. Zhang, Q. Guan, J. Xu, L. Fang, J. Zhao, C. Xu

J Endocrinol Invest. 2019; 42(6): 653–665. Published online 2018 Nov 10. doi: 10.1007/s40618-018-0966-1

PMCID:: PMC6531408

Abstract Article PDF–2.8M

Select item 650662518.

MicroRNA-146b Overexpression Promotes Human Bladder Cancer Invasion via Enhancing ETS2-Mediated mmp2 mRNA Transcription

Junlan Zhu, Chunxia Xu, Liming Ruan, Jianping Wu, Yang Li, Xingguo Zhang

Mol Ther Nucleic Acids. 2019 Jun 7; 16: 531–542. Published online 2019 Apr 14. doi: 10.1016/j.omtn.2019.04.007

PMCID:: PMC6506625

Abstract Article PDF–1.7M

Select item 650301319.

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

Abstract Article PDF–1.2M

Select item 650087220.

Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients

Rui Gong, Yuan He, Xiao-Yun Liu, Hai-Yun Wang, Li-Yue Sun, Xin-Hua Yang, Bin Li, Xin-Kai Cao, Zu-Lu Ye, Ling-Heng Kong, Da-Dong Zhang, Yu-Hong Li, Rui-Hua Xu, Jian-Yong Shao

Cancer Manag Res. 2019; 11: 3721–3739. Published online 2019 Apr 29. doi: 10.2147/CMAR.S193985

PMCID:: PMC6500872

Abstract Article PDF–3.2M

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Type 2 diabetes: pancreatic beta-cells
Type 2 diabetes: pancreatic beta-cells
Accession: GDS3782

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ASCH domain-containing protein [Paenibacillus sp. FSL R5-0928]
ASCH domain-containing protein [Paenibacillus sp. FSL R5-0928]
gi|2712678676|ref|WP_339815953.1|

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