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Items: 1 to 20 of 105

1.
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
AbstractArticlePDF–1.2M
2.
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
AbstractArticlePDF–249K
3.
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
AbstractArticlePDF–292K
4.
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
AbstractArticlePDF–1.0M
5.
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
AbstractArticlePDF–2.4M
6.
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
AbstractArticlePDF–991K
7.
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
AbstractArticle
8.
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
AbstractArticlePDF–830K
9.
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
AbstractArticlePDF–575K
10.
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
AbstractArticlePDF–1.4M
11.
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
AbstractArticlePDF–1.3M
12.
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
AbstractArticlePDF–3.5M
13.
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
AbstractArticlePDF–5.7M
14.
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
AbstractArticlePDF–1.0M
15.
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
AbstractArticlePDF–452K
16.
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
AbstractArticlePDF–4.6M
17.
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
AbstractArticlePDF–3.7M
18.
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
AbstractArticlePDF–3.2M
19.
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
AbstractArticlePDF–1.3M
20.
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
AbstractArticlePDF–471K

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