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Items: 1 to 20 of 93

1.
Atypical juvenile hereditary hemochromatosis onset with positive pancreatic islet autoantibodies diabetes caused by novel mutations in HAMP and overall clinical management
Hui‐Xuan Wu, Jun‐Ying Liu, De‐Wen Yan, Long Li, Xiang‐Hua Zhuang, Hai‐Yan Li, Zhi‐Guang Zhou, Hou‐De Zhou
Mol Genet Genomic Med. 2020 Dec; 8(12): e1522. Published online 2020 Oct 5. doi: 10.1002/mgg3.1522
PMCID:
PMC7767552
ArticlePDF–1.0M
2.
Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
Rossana Santiago de Sousa Azulay, Marcelo Magalhães, Maria da Gloria Tavares, Roberta Dualibe, Lívia Barbosa, Silvia Sá Gaspar, André M. Faria, Gilvan Cortês Nascimento, Sabrina Da Silva Pereira Damianse, Viviane Chaves de Carvalho Rocha, Marília B. Gomes, Manuel dos Santos Faria
Am J Case Rep. 2020; 21: e923108-1–e923108-6. Published online 2020 Apr 24. doi: 10.12659/AJCR.923108
PMCID:
PMC7200091
ArticlePDF–2.0M
3.
Increased Retinal Expression of the Pro-Angiogenic Receptor GPR91 via BMP6 in a Mouse Model of Juvenile Hemochromatosis
Pachiappan Arjunan, Jaya P. Gnanaprakasam, Sudha Ananth, Michelle A. Romej, Veeranan-Karmegam Rajalakshmi, Puttur D. Prasad, Pamela M. Martin, Mariappan Gurusamy, Muthusamy Thangaraju, Yangzom D. Bhutia, Vadivel Ganapathy
Invest Ophthalmol Vis Sci. 2016 Apr; 57(4): 1612–1619. Published online 2016 Apr 5. doi: 10.1167/iovs.15-17437
PMCID:
PMC4824383
ArticlePDF–928K
4.
SLC39A14 Is Required for the Development of Hepatocellular Iron Overload in Murine Models of Hereditary Hemochromatosis
Supak Jenkitkasemwong, Chia-Yu Wang, Richard Coffey, Wei Zhang, Alan Chan, Thomas Biel, Jae-Sung Kim, Shintaro Hojyo, Toshiyuki Fukada, Mitchell D. Knutson
Cell Metab. Author manuscript; available in PMC 2016 Jul 7.
Published in final edited form as: Cell Metab. 2015 Jul 7; 22(1): 138–150. Published online 2015 May 28. doi: 10.1016/j.cmet.2015.05.002
PMCID:
PMC4497937
ArticlePDF–3.4M
5.
Exome Sequencing for Molecular Characterization of Non-HFE Hereditary Hemochromatosis
Colin P. Farrell, Charles J. Parker, John D. Phillips
Blood Cells Mol Dis. Author manuscript; available in PMC 2016 Aug 1.
Published in final edited form as: Blood Cells Mol Dis. 2015 Aug; 55(2): 101–103. Published online 2015 May 1. doi: 10.1016/j.bcmd.2015.04.002
PMCID:
PMC4491409
ArticlePDF–96K
6.
Ovarian Development of Female-Female Pairs in the Termite, Reticulitermes speratus
Kyoko Ishitani, Kiyoto Maekawa
J Insect Sci. 2010; 10: 194. Published online 2010 Nov 8. doi: 10.1673/031.010.19401
PMCID:
PMC3029259
ArticlePDF–635K
7.
BMP Signaling Modulates Hepcidin Expression in Zebrafish Embryos Independent of Hemojuvelin
Yann Gibert, Victoria J. Lattanzi, Aileen W. Zhen, Lea Vedder, Frédéric Brunet, Sarah A. Faasse, Jodie L. Babitt, Herbert Y. Lin, Matthias Hammerschmidt, Paula G. Fraenkel
PLoS One. 2011; 6(1): e14553. Published online 2011 Jan 21. doi: 10.1371/journal.pone.0014553
PMCID:
PMC3024971
ArticlePDF–3.5M
8.
Hepcidin regulation: ironing out the details
Ivana De Domenico, Diane M. Ward, Jerry Kaplan
J Clin Invest. 2007 Jul 2; 117(7): 1755–1758. doi: 10.1172/JCI32701
PMCID:
PMC1904333
ArticlePDF–341K
9.
Genomic data in the All of Us Research Program
The All of Us Research Program Genomics Investigators
Nature. 2024; 627(8003): 340–346. Published online 2024 Feb 19. doi: 10.1038/s41586-023-06957-x
PMCID:
PMC10937371
ArticlePDF–11M
10.
Lactobacillus-derived extracellular vesicles counteract Aβ42-induced abnormal transcriptional changes through the upregulation of MeCP2 and Sirt1 and improve Aβ pathology in Tg-APP/PS1 mice
Hyejin Kwon, Eun-Hwa Lee, So-Young Park, Jin-Young Park, Jin-Hwan Hong, Eun-Kyung Kim, Tae-Seop Shin, Yoon-Keun Kim, Pyung-Lim Han
Exp Mol Med. 2023 Sep; 55(9): 2067–2082. Published online 2023 Sep 13. doi: 10.1038/s12276-023-01084-z
PMCID:
PMC10545704
ArticlePDF–7.4M
11.
Prioritization of therapeutic targets for dyslipidemia using integrative multi-omics and multi-trait analysis
Min Seo Kim, Minku Song, Beomsu Kim, Injeong Shim, Dan Say Kim, Pradeep Natarajan, Ron Do, Hong-Hee Won
Cell Rep Med. 2023 Sep 19; 4(9): 101112. Published online 2023 Aug 14. doi: 10.1016/j.xcrm.2023.101112
PMCID:
PMC10518515
ArticlePDF–6.3M
12.
Embryo model completes gastrulation to neurulation and organogenesis
Gianluca Amadei, Charlotte E. Handford, Chengxiang Qiu, Joachim De Jonghe, Hannah Greenfeld, Martin Tran, Beth K. Martin, Dong-Yuan Chen, Alejandro Aguilera-Castrejon, Jacob H. Hanna, Michael B. Elowitz, Florian Hollfelder, Jay Shendure, David M. Glover, Magdalena Zernicka-Goetz
Nature. 2022; 610(7930): 143–153. Published online 2022 Aug 25. doi: 10.1038/s41586-022-05246-3
PMCID:
PMC9534772
ArticlePDF–29M
13.
Lamin-A/C Is Modulated by the Involvement of Histamine-Mediated Calcium/Calmodulin-Dependent Kinase II in Lung Cancer Cells
Hyeong-Jae Kim, Peter C. W. Lee, Jeong Hee Hong
Int J Mol Sci. 2022 Aug; 23(16): 9075. Published online 2022 Aug 13. doi: 10.3390/ijms23169075
PMCID:
PMC9409298
ArticlePDF–3.8M
14.
Clinical sequencing of soft tissue and bone sarcomas delineates diverse genomic landscapes and potential therapeutic targets
Benjamin A. Nacev, Francisco Sanchez-Vega, Shaleigh A. Smith, Cristina R. Antonescu, Evan Rosenbaum, Hongyu Shi, Cerise Tang, Nicholas D. Socci, Satshil Rana, Rodrigo Gularte-Mérida, Ahmet Zehir, Mrinal M. Gounder, Timothy G. Bowler, Anisha Luthra, Bhumika Jadeja, Azusa Okada, Jonathan A. Strong, Jake Stoller, Jason E. Chan, Ping Chi, Sandra P. D’Angelo, Mark A. Dickson, Ciara M. Kelly, Mary Louise Keohan, Sujana Movva, Katherine Thornton, Paul A. Meyers, Leonard H. Wexler, Emily K. Slotkin, Julia L. Glade Bender, Neerav N. Shukla, Martee L. Hensley, John H. Healey, Michael P. La Quaglia, Kaled M. Alektiar, Aimee M. Crago, Sam S. Yoon, Brian R. Untch, Sarah Chiang, Narasimhan P. Agaram, Meera R. Hameed, Michael F. Berger, David B. Solit, Nikolaus Schultz, Marc Ladanyi, Samuel Singer, William D. Tap
Nat Commun. 2022; 13: 3405. Published online 2022 Jun 15. doi: 10.1038/s41467-022-30453-x
PMCID:
PMC9200818
ArticlePDF–21M
15.
A genome-scale CRISPR screen reveals PRMT1 as a critical regulator of androgen receptor signaling in prostate cancer
Stephen Tang, Vidyalakshmi Sethunath, Nebiyou Y. Metaferia, Marina F. Nogueira, Daniel S. Gallant, Emma R. Garner, Lauren A. Lairson, Christopher M. Penney, Jiao Li, Maya K. Gelbard, Sarah Abou Alaiwi, Ji-Heui Seo, Justin H. Hwang, Craig A. Strathdee, Sylvan C. Baca, Shatha AbuHammad, Xiaoyang Zhang, John G. Doench, William C. Hahn, David Y. Takeda, Matthew L. Freedman, Peter S. Choi, Srinivas R. Viswanathan
Cell Rep. Author manuscript; available in PMC 2022 Apr 25.
Published in final edited form as: Cell Rep. 2022 Feb 22; 38(8): 110417. doi: 10.1016/j.celrep.2022.110417
PMCID:
PMC9036938
ArticlePDF–2.4M
16.
Urine and vaginal microbiota compositions of postmenopausal and premenopausal women differ regardless of recurrent urinary tract infection and renal transplant status
Floor Hugenholtz, Charlotte van der Veer, Matty L. Terpstra, Hanneke Borgdorff, Robin van Houdt, Sylvia Bruisten, Suzanne E. Geerlings, Janneke H. H. M. van de Wijgert
Sci Rep. 2022; 12: 2698. Published online 2022 Feb 17. doi: 10.1038/s41598-022-06646-1
PMCID:
PMC8854725
ArticlePDF–2.2M
17.
Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China
Lingdi Yin, Jishu Wei, Zipeng Lu, Shimeng Huang, Hao Gao, Jianmin Chen, Feng Guo, Min Tu, Bin Xiao, Chunhua Xi, Kai Zhang, Qiang Li, Junli Wu, Wentao Gao, Kuirong Jiang, Jun Yu, Yi Miao
JAMA Netw Open. 2022 Feb; 5(2): e2148721. Published online 2022 Feb 16. doi: 10.1001/jamanetworkopen.2021.48721
PMCID:
PMC8851306
Article
18.
YAP1 and PRDM14 converge to promote cell survival and tumorigenesis
Miju Kim, Seav Huong Ly, Yingtian Xie, Gina N. Duronio, Dane Ford-Roshon, Justin H. Hwang, Rita Sulahian, Jonathan P. Rennhack, Jonathan So, Ole Gjoerup, Jessica A. Talamas, Maximilien Grandclaudon, Henry W. Long, John G. Doench, Nilay S. Sethi, Marios Giannakis, William C. Hahn
Dev Cell. Author manuscript; available in PMC 2023 Jan 24.
Published in final edited form as: Dev Cell. 2022 Jan 24; 57(2): 212–227.e8. Published online 2022 Jan 5. doi: 10.1016/j.devcel.2021.12.006
PMCID:
PMC8827663
ArticlePDF–2.6M
19.
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis
Gonzalo Hernández, Xenia Ferrer-Cortès, Veronica Venturi, Melina Musri, Martin Floor Pilquil, Pau Marc Muñoz Torres, Ines Hernandez Rodríguez, Maria Àngels Ruiz Mínguez, Nicholas J. Kelleher, Sara Pelucchi, Alberto Piperno, Esther Plensa Alberca, Georgina Gener Ricós, Eloi Cañamero Giró, Santiago Pérez-Montero, Cristian Tornador, Jordi Villà-Freixa, Mayka Sánchez
Genes (Basel) 2021 Dec; 12(12): 1980. Published online 2021 Dec 13. doi: 10.3390/genes12121980
PMCID:
PMC8702017
ArticlePDF–7.4M
20.
Structural basis for membrane recruitment of ATG16L1 by WIPI2 in autophagy
Lisa M Strong, Chunmei Chang, Julia F Riley, C Alexander Boecker, Thomas G Flower, Cosmo Z Buffalo, Xuefeng Ren, Andrea KH Stavoe, Erika LF Holzbaur, James H Hurley
eLife. 2021; 10: e70372. Published online 2021 Sep 10. doi: 10.7554/eLife.70372
PMCID:
PMC8455133
ArticlePDF–6.4M

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