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Items: 1 to 20 of 22

1.
Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia
Zahra Nouri, Akram Sarmadi, Sina Narrei, Hamidreza Kianersi, Farzan Kianersi, Mohammad Amin Tabatabaiefar
BMC Med Genomics. 2024; 17: 173. Published online 2024 Jul 1. doi: 10.1186/s12920-024-01942-3
PMCID:
PMC11218353
AbstractArticlePDF–2.9M
2.
Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets
Filip Mihalič, Caroline Benz, Eszter Kassa, Richard Lindqvist, Leandro Simonetti, Raviteja Inturi, Hanna Aronsson, Eva Andersson, Celestine N. Chi, Norman E. Davey, Anna K. Överby, Per Jemth, Ylva Ivarsson
Nat Commun. 2023; 14: 5636. Published online 2023 Sep 13. doi: 10.1038/s41467-023-41312-8
PMCID:
PMC10499821
AbstractArticlePDF–2.6M
3.
Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss
Qiang Du, Qin Sun, Xiaodong Gu, Jinchao Wang, Weitao Li, Luo Guo, Huawei Li
BMC Med Genomics. 2022; 15: 135. Published online 2022 Jun 17. doi: 10.1186/s12920-022-01289-7
PMCID:
PMC9204979
AbstractArticlePDF–1.1M
4.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
5.
Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans
Sang-Yeon Lee, Jin Hee Han, Bong Jik Kim, Seung Ha Oh, Seungmin Lee, Doo-Yi Oh, Byung Yoon Choi
Int J Mol Sci. 2019 Sep; 20(17): 4174. Published online 2019 Aug 26. doi: 10.3390/ijms20174174
PMCID:
PMC6747409
AbstractArticlePDF–2.2M
6.
POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1
Boshi Wang, Xiaoli Xu, Zhaojuan Yang, Li Zhang, Yun Liu, Aihui Ma, Guiqin Xu, Ming Tang, Tiantian Jing, Lin Wu, Yongzhong Liu
EBioMedicine. 2019 Mar; 41: 320–332. Published online 2019 Feb 7. doi: 10.1016/j.ebiom.2019.01.058
PMCID:
PMC6441868
AbstractArticlePDF–7.0M
7.
Rewiring of RSK-PDZ interactome by linear motif phosphorylation
Gergő Gógl, Beáta Biri-Kovács, Fabien Durbesson, Pau Jane, Yves Nomine, Camille Kostmann, Viktória Bilics, Márton Simon, Attila Reményi, Renaud Vincentelli, Gilles Trave, László Nyitray
J Mol Biol. Author manuscript; available in PMC 2020 Mar 15.
Published in final edited form as: J Mol Biol. 2019 Mar 15; 431(6): 1234–1249. Published online 2019 Feb 3. doi: 10.1016/j.jmb.2019.01.038
PMCID:
PMC6424611
AbstractArticlePDF–2.6M
8.
Lnc-PDZD7 contributes to stemness properties and chemosensitivity in hepatocellular carcinoma through EZH2-mediated ATOH8 transcriptional repression
Yi Zhang, Bo Tang, Jun Song, Shuiping Yu, Yang Li, Huizhao Su, Songqing He
J Exp Clin Cancer Res. 2019; 38: 92. Published online 2019 Feb 20. doi: 10.1186/s13046-019-1106-2
PMCID:
PMC6381703
AbstractArticlePDF–11M
9.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
10.
Novel recessive PDZD7 biallelic mutations in two Chinese families with non‐syndromic hearing loss
Jing Guan, Hongyang Wang, Lan Lan, Li Wang, Ju Yang, Linyi Xie, Zifang Yin, Wenping Xiong, Lidong Zhao, Dayong Wang, Qiuju Wang
Am J Med Genet A. 2018 Jan; 176(1): 99–106. Published online 2017 Oct 19. doi: 10.1002/ajmg.a.38477
PMCID:
PMC5765442
AbstractArticlePDF–2.5M
11.
PDZD7 and hearing loss: more than just a modifier
Kevin T Booth, Hela Azaiez, Kimia Kahrizi, Allen C Simpson, William TA Tollefson, Christina M Sloan, Nicole C Meyer, Mojgan Babanejad, Fariba Ardalani, Sanaz Arzhangi, Michael J Schnieders, Hossein Najmabadi, Richard JH Smith
Am J Med Genet A. Author manuscript; available in PMC 2016 Feb 4.
Published in final edited form as: Am J Med Genet A. 2015 Dec; 167(12): 2957–2965. Published online 2015 Sep 29. doi: 10.1002/ajmg.a.37274
PMCID:
PMC4741280
AbstractArticlePDF–968K
12.
Quantifying domain-ligand affinities and specificities by high-throughput holdup assay
Renaud Vincentelli, Katja Luck, Juline Poirson, Jolanta Polanowska, Julie Abdat, Marilyne Blémont, Jeremy Turchetto, François Iv, Kevin Ricquier, Marie-Laure Straub, Anne Forster, Patricia Cassonnet, Jean-Paul Borg, Yves Jacob, Murielle Masson, Yves Nominé, Jérôme Reboul, Nicolas Wolff, Sebastian Charbonnier, Gilles Travé
Nat Methods. Author manuscript; available in PMC 2016 Feb 1.
Published in final edited form as: Nat Methods. 2015 Aug; 12(8): 787–793. Published online 2015 Jun 8. doi: 10.1038/nmeth.3438
PMCID:
PMC4521981
AbstractArticlePDF–1.3M
13.
Whirlin and PDZ Domain-containing 7 (PDZD7) Proteins Are Both Required to Form the Quaternary Protein Complex Associated with Usher Syndrome Type 2
Qian Chen, Junhuang Zou, Zuolian Shen, Weiping Zhang, Jun Yang
J Biol Chem. 2014 Dec 26; 289(52): 36070–36088. Published online 2014 Nov 18. doi: 10.1074/jbc.M114.610535
PMCID:
PMC4276872
AbstractArticlePDF–6.5M
14.
Constitutive Gαi Coupling Activity of Very Large G Protein-coupled Receptor 1 (VLGR1) and Its Regulation by PDZD7 Protein
Qiao-Xia Hu, Jun-Hong Dong, Hai-Bo Du, Dao-Lai Zhang, Hong-Ze Ren, Ming-Liang Ma, Yuan Cai, Tong-Chao Zhao, Xiao-Lei Yin, Xiao Yu, Tian Xue, Zhi-Gang Xu, Jin-Peng Sun
J Biol Chem. 2014 Aug 29; 289(35): 24215–24225. Published online 2014 Jun 24. doi: 10.1074/jbc.M114.549816
PMCID:
PMC4148852
AbstractArticlePDF–2.1M
15.
Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1
Hidekane Yoshimura, Satoshi Iwasaki, Shin-ya Nishio, Kozo Kumakawa, Tetsuya Tono, Yumiko Kobayashi, Hiroaki Sato, Kyoko Nagai, Kotaro Ishikawa, Tetsuo Ikezono, Yasushi Naito, Kunihiro Fukushima, Chie Oshikawa, Takashi Kimitsuki, Hiroshi Nakanishi, Shin-ichi Usami
PLoS One. 2014; 9(3): e90688. Published online 2014 Mar 11. doi: 10.1371/journal.pone.0090688
PMCID:
PMC3949687
AbstractArticlePDF–204K
16.
Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach
DANIEL BÖHM, KSENIA KELLER, JULIA PIETER, NILS BOEHM, DOMINIK WOLTERS, WULF SIGGELKOW, ANTJE LEBRECHT, MARCUS SCHMIDT, HEINZ KÖLBL, NORBERT PFEIFFER, FRANZ-HERMANN GRUS
Oncol Rep. 2012 Aug; 28(2): 429–438. Published online 2012 Jun 1. doi: 10.3892/or.2012.1849
PMCID:
PMC3583517
AbstractArticlePDF–501K
17.
Localization of PDZD7 to the Stereocilia Ankle-Link Associates this Scaffolding Protein with the Usher Syndrome Protein Network
M'hamed Grati, Jung-Bum Shin, Michael D. Weston, James Green, Manzoor A. Bhat, Peter G. Gillespie, Bechara Kachar
J Neurosci. 2012 Oct 10; 32(41): 14288–14293. doi: 10.1523/JNEUROSCI.3071-12.2012
PMCID:
PMC3518401
AbstractArticlePDF–1011K
18.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
19.
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
Inga Ebermann, Jennifer B. Phillips, Max C. Liebau, Robert K. Koenekoop, Bernhard Schermer, Irma Lopez, Ellen Schäfer, Anne-Francoise Roux, Claudia Dafinger, Antje Bernd, Eberhart Zrenner, Mireille Claustres, Bernardo Blanco, Gudrun Nürnberg, Peter Nürnberg, Rebecca Ruland, Monte Westerfield, Thomas Benzing, Hanno J. Bolz
J Clin Invest. 2010 Jun 1; 120(6): 1812–1823. Published online 2010 May 3. doi: 10.1172/JCI39715
PMCID:
PMC2877930
AbstractArticlePDF–3.3M
20.
Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes
Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano
Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406
PMCID:
PMC1356129
AbstractArticlePDF–438K

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