PMC Links for Gene (Select 23169) - PMC

Select item 69274601.

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia

Carsten Rautengarten, Oliver W Quarrell, Karen Stals, Richard C Caswell, Elisa De Franco, Emma Baple, Nadia Burgess, Roobin Jokhi, Joshua L Heazlewood, Amaka C Offiah, Berit Ebert, Sian Ellard

Hum Mol Genet. 2019 Nov 1; 28(21): 3543–3551. Published online 2019 Aug 19. doi: 10.1093/hmg/ddz200

PMCID:: PMC6927460

Abstract Article PDF–91M

Select item 41443542.

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

T Furuichi, H Kayserili, S Hiraoka, G Nishimura, H Ohashi, Y Alanay, J C Lerena, A D Aslanger, H Koseki, D H Cohn, A Superti-Furga, S Unger, S Ikegawa

J Med Genet. Author manuscript; available in PMC 2014 Aug 26.

Published in final edited form as: J Med Genet. 2009 Aug; 46(8): 562–568. Published online 2009 Jun 8. doi: 10.1136/jmg.2008.065201

PMCID:: PMC4144354

Abstract Article PDF–1.8M

Select item 32975733.

A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci

Eimear E. Kenny, Itsik Pe'er, Amir Karban, Laurie Ozelius, Adele A. Mitchell, Sok Meng Ng, Monica Erazo, Harry Ostrer, Clara Abraham, Maria T. Abreu, Gil Atzmon, Nir Barzilai, Steven R. Brant, Susan Bressman, Edward R. Burns, Yehuda Chowers, Lorraine N. Clark, Ariel Darvasi, Dana Doheny, Richard H. Duerr, Rami Eliakim, Nir Giladi, Peter K. Gregersen, Hakon Hakonarson, Michelle R. Jones, Karen Marder, Dermot P. B. McGovern, Jennifer Mulle, Avi Orr-Urtreger, Deborah D. Proctor, Ann Pulver, Jerome I. Rotter, Mark S. Silverberg, Thomas Ullman, Stephen T. Warren, Matti Waterman, Wei Zhang, Aviv Bergman, Lloyd Mayer, Seymour Katz, Robert J. Desnick, Judy H. Cho, Inga Peter

PLoS Genet. 2012 Mar; 8(3): e1002559. Published online 2012 Mar 8. doi: 10.1371/journal.pgen.1002559

PMCID:: PMC3297573

Abstract Article PDF–636K

Select item 91063034.

Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors

Xu Feng, Mengfan Tang, Merve Dede, Dan Su, Guangsheng Pei, Dadi Jiang, Chao Wang, Zhen Chen, Mi Li, Litong Nie, Yun Xiong, Siting Li, Jeong-Min Park, Huimin Zhang, Min Huang, Klaudia Szymonowicz, Zhongming Zhao, Traver Hart, Junjie Chen

Sci Adv. 2022 May; 8(19): eabm6638. Published online 2022 May 13. doi: 10.1126/sciadv.abm6638

PMCID:: PMC9106303

Abstract Article PDF–918K

Select item 85275785.

An antibody-based proximity labeling map reveals mechanisms of SARS-CoV-2 inhibition of antiviral immunity

Yuehui Zhang, Limin Shang, Jing Zhang, Yuchen Liu, Chaozhi Jin, Yanan Zhao, Xiaobo Lei, Wenjing Wang, Xia Xiao, Xiuyuan Zhang, Yujiao Liu, Linlin Liu, Meng-Wei Zhuang, Qingkun Mi, Chunyan Tian, Jianwei Wang, Fuchu He, Pei-Hui Wang, Jian Wang

Cell Chem Biol. 2022 Jan 20; 29(1): 5–18.e6. Published online 2021 Oct 20. doi: 10.1016/j.chembiol.2021.10.008

PMCID:: PMC8527578

Abstract Article PDF–4.5M

Select item 58391586.

Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells

Giorgio Giurato, Giovanni Nassa, Annamaria Salvati, Elena Alexandrova, Francesca Rizzo, Tuula A. Nyman, Alessandro Weisz, Roberta Tarallo

Sci Data. 2018; 5: 180031. Published online 2018 Mar 6. doi: 10.1038/sdata.2018.31

PMCID:: PMC5839158

Abstract Article PDF–1.9M

Select item 56785817.

RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination

Nila Roy Choudhury, Gregory Heikel, Maryia Trubitsyna, Peter Kubik, Jakub Stanislaw Nowak, Shaun Webb, Sander Granneman, Christos Spanos, Juri Rappsilber, Alfredo Castello, Gracjan Michlewski

BMC Biol. 2017; 15: 105. Published online 2017 Nov 8. doi: 10.1186/s12915-017-0444-9