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Select item 107622061.

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

Abstract Article PDF–1.9M

Select item 105033612.

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

Abstract Article PDF–332K

Select item 99501833.

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

Abstract Article PDF–2.4M

Select item 98856684.

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

Abstract Article PDF–9.6M

Select item 92316235.

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

Abstract Article PDF–6.0M

Select item 91714116.

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

Abstract Article PDF–1.9M

Select item 89615307.

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

Abstract Article PDF–1.8M

Select item 85529078.

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

Abstract Article PDF–3.9M

Select item 85420869.

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

Abstract Article PDF–1.4M

Select item 838415810.

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

Abstract Article PDF–3.7M

Select item 816503011.

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 786837312.

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

Abstract Article PDF–737K

Select item 757281713.

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

Abstract Article PDF–1018K

Select item 752697714.

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

Abstract Article PDF–1.8M

Select item 629825415.

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

Abstract Article PDF–1.4M

Select item 589150116.

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

Abstract Article PDF–500K

Select item 578990817.

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

Abstract Article PDF–2.1M

Select item 567858118.

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

Abstract Article PDF–3.2M

Select item 553161119.

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 524312720.

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

Abstract Article PDF–1.3M

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PMC Links for GEO Profiles (Select 75497377) (41)
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Organophosphorus compound VX effect on hepatocytes: dose response
Organophosphorus compound VX effect on hepatocytes: dose response
Accession: GDS3998

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Related DataSets for GEO Profiles (Select 75492937) (1)
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8764[uid] AND (alive[prop]) (1)
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TNFRSF14 TNF receptor superfamily member 14 [Homo sapiens]
TNFRSF14 TNF receptor superfamily member 14 [Homo sapiens]
Gene ID:8764

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