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    Items: 1 to 20 of 90

    1.
    Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations
    Il Tae Hwang, Yusuke Mizuno, Naoko Amano, Hye Jin Lee, Young Suk Shim, Hyo‐Kyoung Nam, Young‐Jun Rhie, Seung Yang, Kee‐Hyoung Lee, Tomonobu Hasegawa, Min Jae Kang
    Mol Genet Genomic Med. 2020 Mar; 8(3): e1146. Published online 2020 Jan 20. doi: 10.1002/mgg3.1146
    PMCID:
    PMC7057090
    AbstractArticlePDF–890K
    2.
    Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population
    Kazuhiko Takeuchi, Yifei Xu, Masako Kitano, Kazuki Chiyonobu, Miki Abo, Koji Ikegami, Satoru Ogawa, Makoto Ikejiri, Mitsuko Kondo, Shimpei Gotoh, Mizuho Nagao, Takao Fujisawa, Kaname Nakatani
    Mol Genet Genomic Med. 2020 Mar; 8(3): e1137. Published online 2020 Jan 20. doi: 10.1002/mgg3.1137
    PMCID:
    PMC7057087
    AbstractArticlePDF–3.4M
    3.
    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
    4.
    HIF1α/TET1 Pathway Mediates Hypoxia-Induced Adipocytokine Promoter Hypomethylation in Human Adipocytes
    Mohamed M. Ali, Shane A. Phillips, Abeer M. Mahmoud
    Cells. 2020 Jan; 9(1): 134. Published online 2020 Jan 6. doi: 10.3390/cells9010134
    PMCID:
    PMC7016890
    AbstractArticlePDF–2.2M
    5.
    Epigenetic induction of tumor stemness via the lipopolysaccharide-TET3-HOXB2 signaling axis in esophageal squamous cell carcinoma
    Fengkai Xu, Zhonghe Liu, Ronghua Liu, Chunlai Lu, Lin Wang, Wei Mao, Qiaoliang Zhu, Huankai Shou, Kunpeng Zhang, Yin Li, Yiwei Chu, Jie Gu, Di Ge
    Cell Commun Signal. 2020; 18: 17. Published online 2020 Feb 3. doi: 10.1186/s12964-020-0510-8
    PMCID:
    PMC6998358
    AbstractArticlePDF–7.8M
    6.
    Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy
    Xihui Chen, Lijuan Yuan, Mao Sun, Qingbo Liu, Yuanming Wu
    J Clin Lab Anal. 2018 Jun; 32(5): e22375. Published online 2018 Jan 4. doi: 10.1002/jcla.22375
    PMCID:
    PMC6816849
    AbstractArticlePDF–523K
    7.
    FUNCTIONAL POLYMORPHISMS IN NRF2: IMPLICATIONS FOR HUMAN DISEASE
    Hye-Youn Cho, Jacqui Marzec, Steven R. Kleeberger
    Free Radic Biol Med. Author manuscript; available in PMC 2019 Oct 7.
    Published in final edited form as: Free Radic Biol Med. 2015 Nov; 88(Pt B): 362–372. Published online 2015 Jun 25. doi: 10.1016/j.freeradbiomed.2015.06.012
    PMCID:
    PMC6779133
    AbstractArticlePDF–1.0M
    8.
    Myocyte enhancer factor‐2 and p300 interact to regulate the expression of homeostatic regulator Pumilio in Drosophila
    Wei‐Hsiang Lin, Richard A. Baines
    Eur J Neurosci. 2019 Jul; 50(1): 1727–1740. Published online 2019 Feb 21. doi: 10.1111/ejn.14357
    PMCID:
    PMC6767705
    AbstractArticlePDF–758K
    9.
    Isolation and Expression Pattern of Human Unc-33-Like Phosphoprotein 6/Collapsin Response Mediator Protein 5 (Ulip6/CRMP5): Coexistence with Ulip2/CRMP2 in Sema3A- Sensitive Oligodendrocytes
    Damien Ricard, Véronique Rogemond, Emmanuelle Charrier, Michèle Aguera, Dominique Bagnard, Marie-Françoise Belin, Nicole Thomasset, Jérôme Honnorat
    J Neurosci. 2001 Sep 15; 21(18): 7203–7214. doi: 10.1523/JNEUROSCI.21-18-07203.2001
    PMCID:
    PMC6763003
    AbstractArticlePDF–2.0M
    10.
    Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations
    Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu
    Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3
    PMCID:
    PMC6742646
    AbstractArticlePDF–1.2M
    11.
    Bta-miR-10b Secreted by Bovine Embryos Negatively Impacts Preimplantation Embryo Quality
    Xiaoyuan Lin, Krishna Chaitanya Pavani, Katrien Smits, Dieter Deforce, Björn Heindryckx, Ann Van Soom, Luc Peelman
    Front Genet. 2019; 10: 757. Published online 2019 Aug 22. doi: 10.3389/fgene.2019.00757
    PMCID:
    PMC6713719
    AbstractArticlePDF–2.1M
    12.
    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
    13.
    The association between interleukin‐1 polymorphisms and their protein expression in Chinese Han patients with breast cancer
    Juan Wang, Yonggang Shi, Gaochao Wang, Shiliang Dong, Daoke Yang, Xiaoxiao Zuo
    Mol Genet Genomic Med. 2019 Aug; 7(8): e804. Published online 2019 Jul 11. doi: 10.1002/mgg3.804
    PMCID:
    PMC6687616
    AbstractArticlePDF–315K
    14.
    Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging
    Aaron R. Jeffries, Reza Maroofian, Claire G. Salter, Barry A. Chioza, Harold E. Cross, Michael A. Patton, Emma Dempster, I. Karen Temple, Deborah J.G. Mackay, Faisal I. Rezwan, Lise Aksglaede, Diana Baralle, Tabib Dabir, Matthew F. Hunter, Arveen Kamath, Ajith Kumar, Ruth Newbury-Ecob, Angelo Selicorni, Amanda Springer, Lionel Van Maldergem, Vinod Varghese, Naomi Yachelevich, Katrina Tatton-Brown, Jonathan Mill, Andrew H. Crosby, Emma L. Baple
    Genome Res. 2019 Jul; 29(7): 1057–1066. doi: 10.1101/gr.243584.118
    PMCID:
    PMC6633263
    AbstractArticlePDF–888K
    15.
    Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes
    Iris M. de Lange, Wout Weuring, Ruben van ‘t Slot, Boudewijn Gunning, Anja C. M. Sonsma, Mark McCormack, Carolien de Kovel, Lisette J. J. M. van Gemert, Flip Mulder, Marjan J. A. van Kempen, Nine V. A. M. Knoers, Eva H. Brilstra, Bobby P. C. Koeleman
    Mol Genet Genomic Med. 2019 Jul; 7(7): e00727. Published online 2019 May 29. doi: 10.1002/mgg3.727
    PMCID:
    PMC6625088
    AbstractArticlePDF–899K
    16.
    TFAP2C increases cell proliferation by downregulating GADD45B and PMAIP1 in non-small cell lung cancer cells
    Hyunhee Do, Dain Kim, JiHoon Kang, Beomseok Son, Danbi Seo, HyeSook Youn, BuHyun Youn, Wanyeon Kim
    Biol Res. 2019; 52: 35. Published online 2019 Jul 11. doi: 10.1186/s40659-019-0244-5
    PMCID:
    PMC6625030
    AbstractArticlePDF–2.1M
    17.
    IRS1‐ rs10498210 G/A and CCR5‐59029 A/G polymorphisms in patients with type 2 diabetes in Kurdistan
    Fatemeh Keshavarzi, Shadi Golsheh
    Mol Genet Genomic Med. 2019 May; 7(5): e631. Published online 2019 Mar 18. doi: 10.1002/mgg3.631
    PMCID:
    PMC6503169
    AbstractArticlePDF–490K
    18.
    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
    AbstractArticlePDF–1.2M
    19.
    Mutation Spectrum in TPO Gene of Bangladeshi Patients with Thyroid Dyshormonogenesis and Analysis of the Effects of Different Mutations on the Structural Features and Functions of TPO Protein through In Silico Approach
    Mst. Noorjahan Begum, Md Tarikul Islam, Shekh Rezwan Hossain, Golam Sarower Bhuyan, Mohammad A. Halim, Imrul Shahriar, Suprovath Kumar Sarker, Shahinur Haque, Tasnia Kawsar Konika, Md. Sazzadul Islam, Asifuzzaman Rahat, Syeda Kashfi Qadri, Rosy Sultana, Suraiya Begum, Sadia Sultana, Narayan Saha, Mizanul Hasan, M. A. Hasanat, Hurjahan Banu, Hossain Uddin Shekhar, Emran Kabir Chowdhury, Abu A. Sajib, Abul B. M. M. K. Islam, Syed Saleheen Qadri, Firdausi Qadri, Sharif Akhteruzzaman, Kaiissar Mannoor
    Biomed Res Int. 2019; 2019: 9218903. Published online 2019 Feb 24. doi: 10.1155/2019/9218903
    PMCID:
    PMC6409061
    AbstractArticlePDF–4.5M
    20.
    Genetic Association of Major Depression With Atypical Features and Obesity-Related Immunometabolic Dysregulations
    Yuri Milaneschi, Femke Lamers, Wouter J. Peyrot, Bernhard T. Baune, Gerome Breen, Abbas Dehghan, Andreas J. Forstner, Hans J. Grabe, Georg Homuth, Carol Kan, Cathryn Lewis, Niamh Mullins, Matthias Nauck, Giorgio Pistis, Martin Preisig, Margarita Rivera, Marcella Rietschel, Fabian Streit, Jana Strohmaier, Alexander Teumer, Sandra Van der Auwera, Naomi R. Wray, Dorret I. Boomsma, Brenda W. J. H. Penninx
    JAMA Psychiatry. 2017 Dec; 74(12): 1214–1225. Published online 2017 Oct 18. doi: 10.1001/jamapsychiatry.2017.3016
    PMCID:
    PMC6396812
    AbstractArticle

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