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Items: 1 to 20 of 109

1.
Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis
Ewelina Bukowska-Olech, Delfina Popiel, Grzegorz Koczyk, Anna Sowińska-Seidler, Magdalena Socha, Bartosz Wojciechowicz, Adam Dawidziuk, Dawid Larysz, Aleksander Jamsheer
Sci Rep. 2020; 10: 4159. Published online 2020 Mar 5. doi: 10.1038/s41598-020-61048-5
PMCID:
PMC7058001
ArticlePDF–1.5M
2.
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
ArticlePDF–890K
3.
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
ArticlePDF–3.4M
4.
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
ArticlePDF–1.2M
5.
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
ArticlePDF–2.2M
6.
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
ArticlePDF–7.8M
7.
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
ArticlePDF–523K
8.
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
ArticlePDF–1.0M
9.
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
ArticlePDF–758K
10.
Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report
Mingming Li, Wei Chen, Xiaomeng Sun, Zhipeng Wang, Xun Zou, Hua Wei, Zhan Wang, Wansheng Chen
BMC Med Genet. 2019; 20: 157. Published online 2019 Sep 12. doi: 10.1186/s12881-019-0880-1
PMCID:
PMC6739925
ArticlePDF–2.8M
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
ArticlePDF–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
ArticlePDF–1.3M
13.
Comprehensive analysis of syndromic hearing loss patients in Japan
Michie Ideura, Shin-ya Nishio, Hideaki Moteki, Yutaka Takumi, Maiko Miyagawa, Teruyuki Sato, Yumiko Kobayashi, Kenji Ohyama, Kiyoshi Oda, Takamichi Matsui, Tsukasa Ito, Hiroshi Suzumura, Kyoko Nagai, Shuji Izumi, Nobuhiro Nishiyama, Manabu Komori, Kozo Kumakawa, Hidehiko Takeda, Yoko Kishimoto, Satoshi Iwasaki, Sakiko Furutate, Kotaro Ishikawa, Masato Fujioka, Hiroshi Nakanishi, Jun Nakayama, Rie Horie, Yumi Ohta, Yasushi Naito, Mariko Kakudo, Hirofumi Sakaguchi, Yuko Kataoka, Kazuma Sugahara, Naohito Hato, Takashi Nakagawa, Nana Tsuchihashi, Yukihiko Kanda, Chiharu Kihara, Tetsuya Tono, Ikuyo Miyanohara, Akira Ganaha, Shin-ichi Usami
Sci Rep. 2019; 9: 11976. Published online 2019 Aug 19. doi: 10.1038/s41598-019-47141-4
PMCID:
PMC6700179
ArticlePDF–1017K
14.
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
ArticlePDF–315K
15.
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
ArticlePDF–888K
16.
A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I
Jing Ma, Ken Lin, Hong‐chao Jiang, Yanli Yang, Yu Zhang, Guilian Yang, Hao Sun, Cheng Ming, Xianyun Bi, Tiesong Zhang, Biao Ruan
Mol Genet Genomic Med. 2019 Jul; 7(7): e00798. Published online 2019 Jun 12. doi: 10.1002/mgg3.798
PMCID:
PMC6625151
ArticlePDF–1015K
17.
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
ArticlePDF–899K
18.
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
ArticlePDF–2.1M
19.
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
ArticlePDF–490K
20.
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
ArticlePDF–1.2M

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