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Select item 70570901.

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

Abstract Article PDF–890K

Select item 70570872.

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

Abstract Article PDF–3.4M

Select item 70271953.

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 70168904.

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

Abstract Article PDF–2.2M

Select item 69983585.

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

Abstract Article PDF–7.8M

Select item 69471576.

Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher Syndromes

Lama Jaffal, Wissam H Joumaa, Alexandre Assi, Charles Helou, George Cherfan, Kazem Zibara, Isabelle Audo, Christina Zeitz, Said El Shamieh

Genes (Basel) 2019 Dec; 10(12): 1047. Published online 2019 Dec 16. doi: 10.3390/genes10121047

PMCID:: PMC6947157

Abstract Article PDF–2.9M

Select item 68168497.

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

Abstract Article PDF–523K

Select item 67791338.

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

Abstract Article PDF–1.0M

Select item 67677059.

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

Abstract Article PDF–758K

Select item 673694910.

Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model

Sheila Castro-Sánchez, Paula Suarez-Bregua, Rossina Novas, María Álvarez-Satta, Jose L. Badano, Josep Rotllant, Diana Valverde

Sci Rep. 2019; 9: 12936. Published online 2019 Sep 10. doi: 10.1038/s41598-019-49217-7

Correction in:: Sci Rep. 2020; 10: 2876.

PMCID:: PMC6736949

Abstract Article PDF–3.5M

Select item 671371911.

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

Abstract Article PDF–2.1M

Select item 670268712.

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 668761613.

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

Abstract Article PDF–315K

Select item 663326314.

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

Abstract Article PDF–888K

Select item 662508815.

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

Abstract Article PDF–899K

Select item 662503016.

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

Abstract Article PDF–2.1M

Select item 650316917.

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

Abstract Article PDF–490K

Select item 650301318.

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

Abstract Article PDF–1.2M

Select item 643887119.

Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing

Saber Imani, Jingliang Cheng, Jiewen Fu, Abdolkarim Mobasher-Jannat, Chunli Wei, Saman Mohazzab-Torabi, Khosrow Jadidi, Mohammad Hossein Khosravi, Marzieh Dehghan Shasaltaneh, Lisha Yang, Md. Asaduzzaman Khan, Junjiang Fu

Biosci Rep. 2019 Mar 29; 39(3): BSR20181544. Prepublished online 2019 Mar 8. Published online 2019 Mar 29. doi: 10.1042/BSR20181544

Retraction in:: Biosci Rep. 2024 Oct 30; 44(10): BSR-2018-1544_RET.

PMCID:: PMC6438871

Abstract Article

Select item 640906120.

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

Abstract Article PDF–4.5M

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