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Items: 1 to 20 of 68

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.
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
3.
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
4.
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome
Shengjiang Tan, Laëtitia Kermasson, Angela Hoslin, Pekka Jaako, Alexandre Faille, Abraham Acevedo-Arozena, Etienne Lengline, Dana Ranta, Maryline Poirée, Odile Fenneteau, Hubert Ducou le Pointe, Stefano Fumagalli, Blandine Beaupain, Patrick Nitschké, Christine Bôle-Feysot, Jean-Pierre de Villartay, Christine Bellanné-Chantelot, Jean Donadieu, Caroline Kannengiesser, Alan J. Warren, Patrick Revy
Blood. 2019 Jul 18; 134(3): 277–290. Prepublished online 2019 May 31. doi: 10.1182/blood.2018893404
PMCID:
PMC6754720
AbstractArticle
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
AbstractArticlePDF–3.7M
12.
Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations
Abril Gijsbers, Diana Carolina Montagut, Alfonso Méndez-Godoy, Davide Altamura, Michele Saviano, Dritan Siliqi, Nuria Sánchez-Puig
Int J Mol Sci. 2018 Dec; 19(12): 4012. Published online 2018 Dec 12. doi: 10.3390/ijms19124012
PMCID:
PMC6321010
AbstractArticlePDF–7.7M
13.
Preserved Expression of Skin Neurotrophic Factors in Advanced Diabetic Neuropathy Does Not Lead to Neural Regeneration despite Pancreas and Kidney Transplantation
František Saudek, Monika Cahová, Terezie Havrdová, Klára Zacharovová, Helena Daňková, Luděk Voska, Věra Lánská, Nurcan Üçeyler, Claudia Sommer
J Diabetes Res. 2018; 2018: 2309108. Published online 2018 Dec 10. doi: 10.1155/2018/2309108
PMCID:
PMC6311823
AbstractArticlePDF–914K
14.
EIF4A3-induced circular RNA MMP9 (circMMP9) acts as a sponge of miR-124 and promotes glioblastoma multiforme cell tumorigenesis
Renjie Wang, Sai Zhang, Xuyi Chen, Nan Li, Jianwei Li, Ruichao Jia, Yuanqing Pan, Haiqian Liang
Mol Cancer. 2018; 17: 166. Published online 2018 Nov 23. doi: 10.1186/s12943-018-0911-0
Correction in:
Mol Cancer. 2020; 19: 153.
PMCID:
PMC6260852
AbstractArticlePDF–7.1M
15.
Integrated miRNA and mRNA expression profiling to identify mRNA targets of dysregulated miRNAs in pulmonary tuberculosis
Xing Zhang, Min Zhu, Xiaolong Hu
Epigenomics. 2018 Aug; 10(8): 1051–1069. Published online 2018 Jul 30. doi: 10.2217/epi-2018-0028
PMCID:
PMC6190256
AbstractArticlePDF–3.9M
16.
Altered expression pattern of circular RNAs in metastatic oral mucosal melanoma
Houyu Ju, Liming Zhang, Lu Mao, Shuli Liu, Weiya Xia, Jingzhou Hu, Min Ruan, Guoxin Ren
Am J Cancer Res. 2018; 8(9): 1788–1800. Published online 2018 Sep 1.
PMCID:
PMC6176177
AbstractArticlePDF–2.0M
17.
MiRNA-BD: an evidence-based bioinformatics model and software tool for microRNA biomarker discovery
Yuxin Lin, Wentao Wu, Zhandong Sun, Li Shen, Bairong Shen
RNA Biol. 2018; 15(8): 1093–1105. Published online 2018 Sep 17. doi: 10.1080/15476286.2018.1502590
PMCID:
PMC6161673
AbstractArticlePDF–2.4M
18.
Incomplete methylation of a germ cell tumor (Seminoma) in a Prader‐Willi male
Talia Eldar‐Geva, Varda Gross‐Tsur, Harry J. Hirsch, Gheona Altarescu, Reeval Segal, Sharon Zeligson, Eliahu Golomb, Silvina Epsztejn‐Litman, Rachel Eiges
Mol Genet Genomic Med. 2018 Sep; 6(5): 811–818. Published online 2018 Jul 12. doi: 10.1002/mgg3.448
PMCID:
PMC6160713
AbstractArticlePDF–3.7M
19.
Genetic determinants of co-accessible chromatin regions in activated T cells across humans
Rachel E. Gate, Christine S. Cheng, Aviva P. Aiden, Atsede Siba, Marcin Tabaka, Dmytro Lituiev, Ido Machol, M. Grace Gordon, Meena Subramaniam, Muhammad Shamim, Kendrick L. Hougen, Ivo Wortman, Su-Chen Huang, Neva C. Durand, Ting Feng, Philip L. De Jager, Howard Y. Chang, Erez Lieberman Aiden, Christophe Benoist, Michael A. Beer, Chun J. Ye, Aviv Regev
Nat Genet. Author manuscript; available in PMC 2019 Jan 9.
Published in final edited form as: Nat Genet. 2018 Aug; 50(8): 1140–1150. Published online 2018 Jul 9. doi: 10.1038/s41588-018-0156-2
PMCID:
PMC6097927
AbstractArticlePDF–1.3M
20.
Two rare missense mutations in the fibrillin-1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome
Miao Zhang, Yaqi Zhou, Yang Peng, Lijun Jin
Mol Med Rep. 2018 Jul; 18(1): 877–881. Published online 2018 May 22. doi: 10.3892/mmr.2018.9041
PMCID:
PMC6059719
AbstractArticlePDF–1.5M

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