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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 70162242.

Error-free and error-prone DNA repair gene expression data through reprogramming and passage in human iPS cells

Yasuhide Yoshimura, Daisuke Okuzaki

Data Brief. 2020 Apr; 29: 105228. Published online 2020 Feb 6. doi: 10.1016/j.dib.2020.105228

PMCID:: PMC7016224

Abstract Article PDF–249K

Select item 70093223.

Germline BLM mutations and metastatic prostate cancer

Elisa M. Ledet, Emmanuel S. Antonarakis, William B. Isaacs, Tamara L. Lotan, Colin Pritchard, A. Oliver Sartor

Prostate. Author manuscript; available in PMC 2020 Feb 10.

Published in final edited form as: Prostate. 2020 Feb; 80(2): 235–237. Published online 2019 Nov 5. doi: 10.1002/pros.23924

PMCID:: PMC7009322

Abstract Article PDF–292K

Select item 69592124.

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 69361545.

An efficient gene selection method for microarray data based on LASSO and BPSO

Ying Xiong, Qing-Hua Ling, Fei Han, Qing-Hua Liu

BMC Bioinformatics. 2019; 20(Suppl 22): 715. Published online 2019 Dec 30. doi: 10.1186/s12859-019-3228-0

PMCID:: PMC6936154

Abstract Article PDF–2.4M

Select item 68889446.

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 68634667.

SLX4IP Antagonizes Promiscuous BLM Activity during ALT Maintenance

Stephanie Panier, Marija Maric, Graeme Hewitt, Emily Mason-Osann, Himabindu Gali, Anqi Dai, Adam Labadorf, Jean-Hugues Guervilly, Philip Ruis, Sandra Segura-Bayona, Ondrej Belan, Paulina Marzec, Pierre-Henri L. Gaillard, Rachel L. Flynn, Simon J. Boulton

Mol Cell. 2019 Oct 3; 76(1): 27–43.e11. doi: 10.1016/j.molcel.2019.07.010

PMCID:: PMC6863466

Abstract Article

Select item 67855288.

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 67322849.

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 673226910.

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 670268711.

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 669427212.

Differential expression of genes associated with hypoxia pathway on bone marrow stem cells in osteoporosis patients with different bone mass index

Qi Zhu, Chang Shan, Ling Li, Lige Song, Keqin Zhang, Yun Zhou

Ann Transl Med. 2019 Jul; 7(14): 309. doi: 10.21037/atm.2019.06.27

PMCID:: PMC6694272

Abstract Article PDF–3.5M

Select item 668812413.

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 662514714.

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 660683415.

Increased error-free DNA repair gene expression through reprogramming in human iPS cells

Yasuhide Yoshimura

Regen Ther. 2019 Dec 1; 11: 101–105. Published online 2019 Jun 28. doi: 10.1016/j.reth.2019.06.003

PMCID:: PMC6606834

Abstract Article PDF–452K

Select item 660150816.

Clustered telomeres in phase-separated nuclear condensates engage mitotic DNA synthesis through BLM and RAD52

Jaewon Min, Woodring E. Wright, Jerry W. Shay

Genes Dev. 2019 Jul 1; 33(13-14): 814–827. doi: 10.1101/gad.324905.119

PMCID:: PMC6601508

Abstract Article PDF–4.6M

Select item 653228817.

Bloom Syndrome Protein Activates AKT and PRAS40 in Prostate Cancer Cells

Kun Chen, Houqiang Xu, Jiafu Zhao

Oxid Med Cell Longev. 2019; 2019: 3685817. Published online 2019 May 9. doi: 10.1155/2019/3685817

PMCID:: PMC6532288

Abstract Article PDF–3.7M

Select item 650087218.

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

Select item 646887319.

Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer

Marcos Díaz-Gay, Sebastià Franch-Expósito, Coral Arnau-Collell, Solip Park, Fran Supek, Jenifer Muñoz, Laia Bonjoch, Anna Gratacós-Mulleras, Paula A. Sánchez-Rojas, Clara Esteban-Jurado, Teresa Ocaña, Miriam Cuatrecasas, Maria Vila-Casadesús, Juan José Lozano, Genis Parra, Steve Laurie, Sergi Beltran, EPICOLON Consortium, Antoni Castells, Luis Bujanda, Joaquín Cubiella, Francesc Balaguer, Sergi Castellví-Bel

Cancers (Basel) 2019 Mar; 11(3): 362. Published online 2019 Mar 13. doi: 10.3390/cancers11030362

PMCID:: PMC6468873

Abstract Article PDF–1.3M

Select item 636336120.

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

PMCID:: PMC6363361

Abstract Article PDF–471K

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