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Items: 1 to 20 of 172

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.
Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome Pedigree
Tahir Zaib, Chunhui Zhang, Komal Saleem, Lidan Xu, Qian Qin, Yusi Wang, Wei Ji, Hanif Khan, Hanfei Yu, Siqi Zhu, Wei Gao, Yun Huang, Xueyuan Jia, Jie Wu, Hongtao Song, Yanqiao Zhang, Wenjing Sun, Songbin Fu
Dis Markers. 2020; 2020: 8360841. Published online 2020 Jan 29. doi: 10.1155/2020/8360841
Retraction in:
Dis Markers. 2023; 2023: 9784325.
PMCID:
PMC7008259
AbstractArticle
6.
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing
Sun Hee Rosenthal, Weimin Sun, Ke Zhang, Yan Liu, Quoclinh Nguyen, Anna Gerasimova, Camille Nery, Linda Cheng, Carolyn Castonguay, Elaine Hiller, James Li, Christopher Elzinga, David Wolfson, Alla Smolgovsky, Rebecca Chen, Arlene Buller-Burckle, Joseph Catanese, Andrew Grupe, Felicitas Lacbawan, Renius Owen
Biomed Res Int. 2020; 2020: 3289023. Published online 2020 Jan 22. doi: 10.1155/2020/3289023
PMCID:
PMC6998746
AbstractArticlePDF–443K
7.
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
8.
Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach
Javier Oliver, Rosalía Quezada Urban, Claudia Alejandra Franco Cortés, Clara Estela Díaz Velásquez, Ana Lorena Montealegre Paez, Rafael Adrián Pacheco-Orozco, Carlos Castro Rojas, Reggie García-Robles, Juan Javier López Rivera, Sandra Gaitán Chaparro, Ana Milena Gómez, Fernando Suarez Obando, Gustavo Giraldo, Maria Isabel Maya, Paula Hurtado-Villa, Ana Isabel Sanchez, Norma Serrano, Ana Isabel Orduz Galvis, Sandra Aruachan, Johanna Nuñez Castillo, Cecilia Frecha, Cecilia Riggi, Federico Jauk, Eva María Gómez García, Claudia Lorena Carranza, Vanessa Zamora, Gabriela Torres Mejía, Isabelle Romieu, Carlos Arturo Castañeda, Miluska Castillo, Rina Gitler, Adriana Antoniano, Ernesto Rojas Jiménez, Luis Enrique Romero Cruz, Fernando Vallejo Lecuona, Iván Delgado Enciso, Abril Bernardette Martínez Rizo, Alejandro Flores Carranza, Verónica Benites Godinez, Claudia Fabiola Méndez Catalá, Luis Alonso Herrera, Yolanda Irasema Chirino, Luis Ignacio Terrazas, Sandra Perdomo, Felipe Vaca Paniagua
Front Oncol. 2019; 9: 1429. Published online 2019 Dec 20. doi: 10.3389/fonc.2019.01429
PMCID:
PMC6933010
AbstractArticlePDF–815K
9.
Microsatellite Instability and Altered Expressions of MLH1 and MSH2 in Gastric Cancer
Nor Hasyimah Haron, Ezanee Azlina Mohamad Hanif, Mohd Rizal Abdul Manaf, Jasmi Ali Yaakub, Roslan Harun, Ramelah Mohamed, Isa Mohamed Rose
Asian Pac J Cancer Prev. 2019; 20(2): 509–517. doi: 10.31557/APJCP.2019.20.2.509
PMCID:
PMC6897031
AbstractArticlePDF–773K
10.
Germline and somatic mutations of homologous recombination-associated genes in Japanese ovarian cancer patients
Kentaro Sugino, Ryo Tamura, Hirofumi Nakaoka, Nozomi Yachida, Manako Yamaguchi, Yutaro Mori, Kaoru Yamawaki, Kazuaki Suda, Tatsuya Ishiguro, Sosuke Adachi, Masanori Isobe, Masayuki Yamaguchi, Katsunori Kashima, Teiichi Motoyama, Ituro Inoue, Kosuke Yoshihara, Takayuki Enomoto
Sci Rep. 2019; 9: 17808. Published online 2019 Nov 28. doi: 10.1038/s41598-019-54116-y
PMCID:
PMC6882827
AbstractArticlePDF–1.5M
11.
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
12.
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
13.
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
14.
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
15.
Modeling Retinitis Pigmentosa: Retinal Organoids Generated From the iPSCs of a Patient With the USH2A Mutation Show Early Developmental Abnormalities
Yonglong Guo, Peiyuan Wang, Jacey Hongjie Ma, Zekai Cui, Quan Yu, Shiwei Liu, Yunxia Xue, Deliang Zhu, Jixing Cao, Zhijie Li, Shibo Tang, Jiansu Chen
Front Cell Neurosci. 2019; 13: 361. Published online 2019 Aug 7. doi: 10.3389/fncel.2019.00361
PMCID:
PMC6709881
AbstractArticlePDF–8.0M
16.
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
17.
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
18.
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
19.
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
20.
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

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