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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 68889443.

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 68053134.

Metformin overcomes resistance to cisplatin in triple-negative breast cancer (TNBC) cells by targeting RAD51

Jung Ok Lee, Min Ju Kang, Won Seok Byun, Shin Ae Kim, Il Hyeok Seo, Jeong Ah. Han, Ji Wook Moon, Ji Hae Kim, Su Jin Kim, Eun Jung Lee, Serk In Park, Sun Hwa Park, Hyeon Soo Kim

Breast Cancer Res. 2019; 21: 115. Published online 2019 Oct 22. doi: 10.1186/s13058-019-1204-2

PMCID:: PMC6805313

Abstract Article PDF–3.6M

Select item 67954725.

Differential Requirements for the RAD51 Paralogs in Genome Repair and Maintenance in Human Cells

Edwige B. Garcin, Stéphanie Gon, Meghan R. Sullivan, Gregory J. Brunette, Anne De Cian, Jean-Paul Concordet, Carine Giovannangeli, Wilhelm G. Dirks, Sonja Eberth, Kara A. Bernstein, Rohit Prakash, Maria Jasin, Mauro Modesti

PLoS Genet. 2019 Oct; 15(10): e1008355. Published online 2019 Oct 4. doi: 10.1371/journal.pgen.1008355

PMCID:: PMC6795472

Abstract Article PDF–2.6M

Select item 67855286.

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 67649467.

Non-enzymatic roles of human RAD51 at stalled replication forks

Jennifer M. Mason, Yuen-Ling Chan, Ralph W. Weichselbaum, Douglas K. Bishop

Nat Commun. 2019; 10: 4410. Published online 2019 Sep 27. doi: 10.1038/s41467-019-12297-0

PMCID:: PMC6764946

Abstract Article PDF–1.4M

Select item 67322848.

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 67322699.

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 670268710.

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 668812411.

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 662514712.

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 660683413.

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 658049614.

Dp71 depleted HBE cells displayed increased DNA damage and apoptosis induced by H₂O₂

Sichuang Tan, Shuai Zhao, Xuefei Xiao, Lan Xiao, Jinliang Xie, Sipin Tan

Cell Mol Biol Lett. 2019; 24: 42. Published online 2019 Jun 17. doi: 10.1186/s11658-019-0169-6

PMCID:: PMC6580496

Abstract Article PDF–2.1M

Select item 647075915.

Functional Analysis of Promoter Variants in Genes Involved in Sex Steroid Action, DNA Repair and Cell Cycle Control

Yosr Hamdi, Martin Leclerc, Martine Dumont, Stéphane Dubois, Martine Tranchant, Guy Reimnitz, Penny Soucy, Pauline Cassart, Manon Ouimet, Daniel Sinnett, M’Hamed Lajmi Lakhal Chaieb, Jacques Simard

Genes (Basel) 2019 Mar; 10(3): 186. Published online 2019 Feb 28. doi: 10.3390/genes10030186

PMCID:: PMC6470759

Abstract Article PDF–3.4M

Select item 638930716.

Positive effect of single nucleotide RAD51 135G>C polymorphism and low Ku70 protein expression on female rectal cancer patients survival after preoperative radiotherapy

Anna Gasinska, Beata Biesaga, Anna Janecka Widla, Zbigniew Darasz

Turk J Gastroenterol. 2019 Jan; 30(1): 3–14. Published online 2018 Sep 12. doi: 10.5152/tjg.2018.17486

PMCID:: PMC6389307

Abstract Article PDF–307K

Select item 636336117.

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

Select item 635344618.

Congenital Mirror Movements in a New Italian Family

Alfonso Fasano, Matteo Bologna, Ennio Iezzi, Luigi Pavone, Myriam Srour, Francesca Di Biasio, Giovanni Grillea, Guy A. Rouleau, Annie Levert, Fabio Sebastiano, Claudio Colonnese, Alfredo Berardelli

Mov Disord Clin Pract. 2014 Sep; 1(3): 180–187. Published online 2014 Jul 28. doi: 10.1002/mdc3.12066