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Items: 1 to 20 of 41

1.
Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene
Julie Moyaert, Annick Gilles, Griet Mertens, Marc J. W. Lammers, Hanne Gommeren, Sebastien Janssens de Varebeke, Erik Fransen, Nicolas Verhaert, Sam Denys, Raymond van de Berg, Ronald Pennings, Olivier Vanderveken, Vincent Van Rompaey
Sci Rep. 2024; 14: 184. Published online 2024 Jan 2. doi: 10.1038/s41598-023-50583-6
PMCID:
PMC10762206
AbstractArticlePDF–1.9M
2.
Evaluation of hearing levels and vestibular function and the impact on cognitive performance in (pre)-symptomatic patients with DFNA9: protocol for a prospective longitudinal study (Rosetta study)
Hanne Gommeren, Julie Moyaert, Joyce Bosmans, Griet Mertens, Patrick Cras, Sebastiaan Engelborghs, Angelique Van Ombergen, Annick Gilles, Debby Van Dam, Vincent Van Rompaey
BMJ Open. 2023; 13(9): e075179. Published online 2023 Sep 13. doi: 10.1136/bmjopen-2023-075179
PMCID:
PMC10503361
AbstractArticlePDF–332K
3.
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment
Daphne J. Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A. A. Demmers, Dick H. W. Dekkers, Antonio Romito, Peter J. van der Spek, Tjakko J. van Ham, Aida M. Bertoli-Avella, Grazia M. S. Mancini
Hum Genet. 2023; 142(3): 379–397. Published online 2022 Dec 20. doi: 10.1007/s00439-022-02511-3
PMCID:
PMC9950183
AbstractArticlePDF–2.4M
4.
Inhibiting KCNMA1-AS1 promotes osteogenic differentiation of HBMSCs via miR-1303/cochlin axis
Yuan Lin, Hanhao Dai, Guoyu Yu, Chao Song, Jun Liu, Jie Xu
J Orthop Surg Res. 2023; 18: 73. Published online 2023 Jan 30. doi: 10.1186/s13018-023-03538-6
PMCID:
PMC9885668
AbstractArticlePDF–9.6M
5.
ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1
Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen
Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119
PMCID:
PMC9231623
AbstractArticlePDF–6.0M
6.
Physical and functional interactome atlas of human receptor tyrosine kinases
Kari Salokas, Xiaonan Liu, Tiina Öhman, Iftekhar Chowdhury, Lisa Gawriyski, Salla Keskitalo, Markku Varjosalo
EMBO Rep. 2022 Jun; 23(6): e54041. Published online 2022 Apr 5. doi: 10.15252/embr.202154041
PMCID:
PMC9171411
AbstractArticlePDF–1.9M
7.
Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis
Sybren M. M. Robijn, Jeroen J. Smits, Kadriye Sezer, Patrick L. M. Huygen, Andy J. Beynon, Erwin van Wijk, Hannie Kremer, Erik de Vrieze, Cornelis P. Lanting, Ronald J. E. Pennings
Biomolecules. 2022 Feb; 12(2): 220. Published online 2022 Jan 27. doi: 10.3390/biom12020220
PMCID:
PMC8961530
AbstractArticlePDF–1.8M
8.
SARS‐CoV‐2–host proteome interactions for antiviral drug discovery
Xiaonan Liu, Sini Huuskonen, Tuomo Laitinen, Taras Redchuk, Mariia Bogacheva, Kari Salokas, Ina Pöhner, Tiina Öhman, Arun Kumar Tonduru, Antti Hassinen, Lisa Gawriyski, Salla Keskitalo, Maria K Vartiainen, Vilja Pietiäinen, Antti Poso, Markku Varjosalo
Mol Syst Biol. 2021 Nov; 17(11): e10396. Published online 2021 Oct 28. doi: 10.15252/msb.202110396
PMCID:
PMC8552907
AbstractArticlePDF–3.9M
9.
Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I—A Cross-sectional Study of Hearing Function in 111 Carriers
Sebastien P. F. JanssensdeVarebeke, Julie Moyaert, Erik Fransen, Britt Bulen, Celine Neesen, Katrien Devroye, Raymond van de Berg, Ronald J. E. Pennings, Vedat Topsakal, Olivier Vanderveken, Guy Van Camp, Vincent Van Rompaey
Ear Hear. 2021 Nov-Dec; 42(6): 1508–1524. Published online 2021 Oct 22. doi: 10.1097/AUD.0000000000001099
PMCID:
PMC8542086
AbstractArticlePDF–1.4M
10.
Interactome analysis of Bag-1 isoforms reveals novel interaction partners in endoplasmic reticulum-associated degradation
Nisan Denizce Can, Ezgi Basturk, Tugba Kizilboga, Izzet Mehmet Akcay, Baran Dingiloglu, Ozge Tatli, Sevilay Acar, Pelin Ozfiliz Kilbas, Efe Elbeyli, Serena Muratcioglu, Ayse Tarbin Jannuzzi, Attila Gursoy, Ozlem Keskin, Hamdi Levent Doganay, Betul Karademir Yilmaz, Gizem Dinler Doganay
PLoS One. 2021; 16(8): e0256640. Published online 2021 Aug 24. doi: 10.1371/journal.pone.0256640
PMCID:
PMC8384158
AbstractArticlePDF–3.7M
11.
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
AbstractArticlePDF–2.2M
12.
Homozygote loss-of-function variants in the human COCH gene underlie hearing loss
Nada Danial-Farran, Elena Chervinsky, Prathamesh T Nadar-Ponniah, Eran Cohen Barak, Shahar Taiber, Morad Khayat, Karen B. Avraham, Stavit A. Shalev
Eur J Hum Genet. 2021 Feb; 29(2): 338–342. Published online 2020 Sep 16. doi: 10.1038/s41431-020-00724-6
PMCID:
PMC7868373
AbstractArticlePDF–737K
13.
Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Hearing Loss
Kevin T Booth, Amama Ghaffar, Muhammad Rashid, Luke T Hovey, Mureed Hussain, Kathy Frees, Erika M Renkes, Carla J Nishimura, Mohsin Shahzad, Richard J Smith, Zubair Ahmed, Hela Azaiez, Saima Riazuddin
Hum Genet. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Hum Genet. 2020 Dec; 139(12): 1565–1574. Published online 2020 Jun 19. doi: 10.1007/s00439-020-02197-5
PMCID:
PMC7572817
AbstractArticlePDF–1018K
14.
Cochlin-cleaved LCCL is a dual-armed regulator of the innate immune response in the cochlea during inflammation
Hyeong-Jun Rhyu, Seong Hoon Bae, Jinsei Jung, Young-Min Hyun
BMB Rep. 2020 Sep 30; 53(9): 449–452. Published online 2020 Sep 30. doi: 10.5483/BMBRep.2020.53.9.104
PMCID:
PMC7526977
AbstractArticlePDF–1.8M
15.
A protein-protein interaction map of the TNF-induced NF-κB signal transduction pathway
Emmy Van Quickelberghe, Delphine De Sutter, Geert van Loo, Sven Eyckerman, Kris Gevaert
Sci Data. 2018; 5: 180289. Published online 2018 Dec 18. doi: 10.1038/sdata.2018.289
PMCID:
PMC6298254
AbstractArticlePDF–1.4M
16.
Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment
Sebastien P. F. JanssensdeVarebeke, Guy Van Camp, Nils Peeters, Ellen Elinck, Josine Widdershoven, Tony Cox, Kristof Deben, Katrien Ketelslagers, Tom Crins, Wim Wuyts
Eur J Hum Genet. 2018 Apr; 26(4): 587–591. Published online 2018 Feb 15. doi: 10.1038/s41431-017-0066-2
PMCID:
PMC5891501
AbstractArticlePDF–500K
17.
Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa
Alexander Nyström, Olivier Bornert, Tobias Kühl, Christine Gretzmeier, Kerstin Thriene, Jörn Dengjel, Andrea Pfister-Wartha, Dimitra Kiritsi, Leena Bruckner-Tuderman
Proc Natl Acad Sci U S A. 2018 Jan 23; 115(4): E705–E714. Published online 2018 Jan 5. doi: 10.1073/pnas.1709111115
PMCID:
PMC5789908
AbstractArticlePDF–2.1M
18.
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
PMCID:
PMC5678581
AbstractArticlePDF–3.2M
19.
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
AbstractArticlePDF–2.7M
20.
Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9
Qi Wang, Peipei Fei, Hongbo Gu, Yanmei Zhang, Xiaomei Ke, Yuhe Liu
PLoS One. 2017; 12(1): e0170011. Published online 2017 Jan 18. doi: 10.1371/journal.pone.0170011
PMCID:
PMC5243127
AbstractArticlePDF–1.3M

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