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Select item 109317351.

EBS in Children with De Novo Pathogenic Variants Disturbing Krt14

Anastasiya V. Kosykh, Irina I. Ryumina, Alexandra S. Botkina, Nadezhda A. Evtushenko, Elena B. Zhigmitova, Aleksandra A. Martynova, Nadya G. Gurskaya, Denis V. Rebrikov

Int J Mol Sci. 2024 Mar; 25(5): 2989. Published online 2024 Mar 4. doi: 10.3390/ijms25052989

PMCID:: PMC10931735

Abstract Article PDF–2.9M

Select item 104607322.

The RNA binding protein MEX3A promotes tumor progression of breast cancer by post-transcriptional regulation of IGFBP4

Wenhu Chen, Liqiang Hu, Xuemei Lu, Xiaofei Wang, Changan Zhao, Chen Guo, Xiaoyan Li, Yuqin Ding, Hongguang Zhao, Dongdong Tong, Lifang Wang, Chen Huang

Breast Cancer Res Treat. 2023; 201(3): 353–366. Published online 2023 Jul 11. doi: 10.1007/s10549-023-07028-5

PMCID:: PMC10460732

Abstract Article PDF–5.6M

Select item 103719873.

A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development

Anthony J. Asmar, Shaun R. Abrams, Jenny Hsin, Jason C. Collins, Rita M. Yazejian, Youmei Wu, Jean Cho, Andrew D. Doyle, Samhitha Cinthala, Marleen Simon, Richard H. van Jaarsveld, David B. Beck, Laura Kerosuo, Achim Werner

Nat Commun. 2023; 14: 4499. Published online 2023 Jul 26. doi: 10.1038/s41467-023-40223-y

PMCID:: PMC10371987

Abstract Article PDF–3.9M

Select item 100878124.

A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation

Mathilde C.S.C. Vermeer, Mohammad Al‐Shinnag, Herman H.W. Silljé, Antonio Esquivel Gaytan, Dedee F. Murrell, Julie McGaughran, Wei Melbourne, Timothy Cowan, Peter C. van den Akker, Karin Y. van Spaendonck‐Zwarts, Peter van der Meer, Maria C. Bolling

Br J Dermatol. 2022 Dec; 187(6): 1045–1048. Published online 2022 Sep 9. doi: 10.1111/bjd.21832

PMCID:: PMC10087812

Abstract Article PDF–4.4M

Select item 91052355.

Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling

Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser

Int J Mol Sci. 2022 May; 23(9): 5151. Published online 2022 May 5. doi: 10.3390/ijms23095151

PMCID:: PMC9105235

Abstract Article PDF–5.8M

Select item 90292376.

Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy

Elena Logli, Elisa Marzuolo, Marco D’Agostino, Libenzio Adrian Conti, Anna Maria Lena, Andrea Diociaiuti, Elena Dellambra, Cristina Has, Valentina Cianfanelli, Giovanna Zambruno, May El Hachem, Alessandra Magenta, Eleonora Candi, Angelo Giuseppe Condorelli

Hum Mol Genet. 2022 Apr 15; 31(8): 1308–1324. Published online 2021 Nov 5. doi: 10.1093/hmg/ddab318

PMCID:: PMC9029237

Abstract Article PDF–2.3M

Select item 87690727.

Proteome‐scale mapping of binding sites in the unstructured regions of the human proteome

Caroline Benz, Muhammad Ali, Izabella Krystkowiak, Leandro Simonetti, Ahmed Sayadi, Filip Mihalic, Johanna Kliche, Eva Andersson, Per Jemth, Norman E Davey, Ylva Ivarsson

Mol Syst Biol. 2022 Jan; 18(1): e10584. Published online 2022 Jan 19. doi: 10.15252/msb.202110584

PMCID:: PMC8769072

Abstract Article PDF–2.9M

Select item 86671868.

A Novel CUL3 Variant causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase activity

Harish E. Chatrathi, Jason C. Collins, Lynne A. Wolfe, Thomas C. Markello, David R. Adams, William A. Gahl, Achim Werner, Prashant Sharma

Hypertension. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: Hypertension. 2022 Jan; 79(1): 60–75. Published online 2021 Dec 2. doi: 10.1161/HYPERTENSIONAHA.121.17624

PMCID:: PMC8667186

Abstract Article PDF–1.6M

Select item 81650309.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 716998310.

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

Abstract Article PDF–5.4M

Select item 681204511.

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24

Carola Hedberg-Oldfors, Alexandra Abramsson, Daniel P S Osborn, Olof Danielsson, Afsoon Fazlinezhad, Yalda Nilipour, Laila Hübbert, Inger Nennesmo, Kittichate Visuttijai, Jaipreet Bharj, Evmorfia Petropoulou, Azza Shoreim, Barbara Vona, Najmeh Ahangari, Marcela Dávila López, Mohammad Doosti, Rakesh Kumar Banote, Reza Maroofian, Malin Edling, Mehdi Taherpour, Henrik Zetterberg, Ehsan Ghayoor Karimiani, Anders Oldfors, Yalda Jamshidi

Hum Mol Genet. 2019 Jun 1; 28(11): 1919–1929. Published online 2019 Feb 1. doi: 10.1093/hmg/ddz032

PMCID:: PMC6812045

Abstract Article PDF–226M

Select item 582692612.

VIRMA mediates preferential m⁶A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation

Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu

Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0

PMCID:: PMC5826926

Abstract Article PDF–2.3M

Select item 553161113.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 514211114.

Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility

Yinghong He, Kristin Maier, Juna Leppert, Ingrid Hausser, Agnes Schwieger-Briel, Lisa Weibel, Martin Theiler, Dimitra Kiritsi, Hauke Busch, Melanie Boerries, Katariina Hannula-Jouppi, Hannele Heikkilä, Kaisa Tasanen, Daniele Castiglia, Giovanna Zambruno, Cristina Has

Am J Hum Genet. 2016 Dec 1; 99(6): 1395–1404. Published online 2016 Nov 23. doi: 10.1016/j.ajhg.2016.11.005

PMCID:: PMC5142111

Abstract Article PDF–2.2M

Select item 461721115.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043