PMC Links for Gene (Select 57465) - PMC

Links from Gene

Items: 1 to 20 of 33

<< First< Prev

Page of 2

Next >Last >>

Select item 108992261.

Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss

Peiliang Lei, Qingwen Zhu, Wenrong Dong

Sci Rep. 2024; 14: 4734. Published online 2024 Feb 27. doi: 10.1038/s41598-024-55435-5

PMCID:: PMC10899226

Abstract Article PDF–3.0M

Select item 81194872.

TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss

Dominika Oziębło, Marcin L. Leja, Michal Lazniewski, Anna Sarosiak, Grażyna Tacikowska, Krzysztof Kochanek, Dariusz Plewczynski, Henryk Skarżyński, Monika Ołdak

Sci Rep. 2021; 11: 10300. Published online 2021 May 13. doi: 10.1038/s41598-021-89645-y

PMCID:: PMC8119487

Abstract Article PDF–3.6M

Select item 68891773.

TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons

Davide Aprile, Floriana Fruscione, Simona Baldassari, Manuela Fadda, Daniele Ferrante, Antonio Falace, Emmanuelle Buhler, Jacopo Sartorelli, Alfonso Represa, Pietro Baldelli, Fabio Benfenati, Federico Zara, Anna Fassio

Cell Death Differ. 2019 Nov; 26(11): 2464–2478. Published online 2019 Mar 11. doi: 10.1038/s41418-019-0313-x

PMCID:: PMC6889177

Abstract Article PDF–3.4M

Select item 61132264.

TBC1d24-ephrinB2 interaction regulates contact inhibition of locomotion in neural crest cell migration

Jaeho Yoon, Yoo-Seok Hwang, Moonsup Lee, Jian Sun, Hee Jun Cho, Laura Knapik, Ira O. Daar

Nat Commun. 2018; 9: 3491. Published online 2018 Aug 28. doi: 10.1038/s41467-018-05924-9

PMCID:: PMC6113226

Abstract Article PDF–2.7M

Select item 60295145.

Downregulation of TBC1 Domain Family Member 24 (BC1D24) Inhibits Breast Carcinoma Growth via IGF1R/PI3K/AKT Pathway

Xiusheng Qu, Bin Zhao, Min Hu, Zhiwu Ji, Jian Xu, Weibin Xia, Yikun Qu

Med Sci Monit. 2018; 24: 3987–3996. Published online 2018 Jun 12. doi: 10.12659/MSM.906736

PMCID:: PMC6029514

Abstract Article PDF–2.7M

Select item 49322316.

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Kevin Lüthy, Mattea J. Finelli, Patrik Verstreken, Aaron Cardon, Barbara Gnidovec Stražišar, J. Lloyd Holder, Jr, Gaetan Lesca, Maria M. Mancardi, Anne L. Poulat, Gabriela M. Repetto, Siddharth Banka, Leonilda Bilo, Laura E. Birkeland, Friedrich Bosch, Knut Brockmann, J. Helen Cross, Diane Doummar, Temis M. Félix, Fabienne Giuliano, Mutsuki Hori, Irina Hüning, Hulia Kayserili, Usha Kini, Melissa M. Lees, Girish Meenakshi, Leena Mewasingh, Alistair T. Pagnamenta, Silvio Peluso, Antje Mey, Gregory M. Rice, Jill A. Rosenfeld, Jenny C. Taylor, Matthew M. Troester, Christine M. Stanley, Dorothee Ville, Magdalena Walkiewicz, Antonio Falace, Anna Fassio, Johannes R. Lemke, Saskia Biskup, Jessica Tardif, Norbert F. Ajeawung, Aslihan Tolun, Mark Corbett, Jozef Gecz, Zaid Afawi, Katherine B. Howell, Karen L. Oliver, Samuel F. Berkovic, Ingrid E. Scheffer, Fabrizio A. de Falco, Peter L. Oliver, Pasquale Striano, Federico Zara, Phillipe M. Campeau, S.M. Sisodiya

Neurology. 2016 Jul 5; 87(1): 77–85. doi: 10.1212/WNL.0000000000002807

PMCID:: PMC4932231

Abstract Article PDF–748K

Select item 38953247.

The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M Campeau, Dalia Kasperaviciute, James T Lu, Lindsay C Burrage, Choel Kim, Mutsuki Hori, Berkley R Powell, Fiona Stewart, Têmis Maria Félix, Jenneke van den Ende, Marzena Wisniewska, Hülya Kayserili, Patrick Rump, Sheela Nampoothiri, Salim Aftimos, Antje Mey, Lal D V Nair, Michael L Begleiter, Isabelle De Bie, Girish Meenakshi, Mitzi L Murray, Gabriela M Repetto, Mahin Golabi, Edward Blair, Alison Male, Fabienne Giuliano, Ariana Kariminejad, William G Newman, Sanjeev S Bhaskar, Jonathan E Dickerson, Bronwyn Kerr, Siddharth Banka, Jacques C Giltay, Dagmar Wieczorek, Anna Tostevin, Joanna Wiszniewska, Sau Wai Cheung, Raoul C Hennekam, Richard A Gibbs, Brendan H Lee, Sanjay M Sisodiya

Lancet Neurol. 2014 Jan; 13(1): 44–58. doi: 10.1016/S1474-4422(13)70265-5

PMCID:: PMC3895324

Abstract Article

Select item 38829118.

Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86

Atteeq U. Rehman, Regie Lyn P. Santos-Cortez, Robert J. Morell, Meghan C. Drummond, Taku Ito, Kwanghyuk Lee, Asma A. Khan, Muhammad Asim R. Basra, Naveed Wasif, Muhammad Ayub, Rana A. Ali, Syed I. Raza, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Jay Shendure, Michael Bamshad, Saima Riazuddin, Neil Billington, Shaheen N. Khan, Penelope L. Friedman, Andrew J. Griffith, Wasim Ahmad, Sheikh Riazuddin, Suzanne M. Leal, Thomas B. Friedman

Am J Hum Genet. 2014 Jan 2; 94(1): 144–152. doi: 10.1016/j.ajhg.2013.12.004

PMCID:: PMC3882911

Abstract Article PDF–1.4M

Select item 33206889.

DFNB86, a novel autosomal recessive nonsyndromic deafness locus on chromosome 16p13.3

Rana A. Ali, Atteeq U. Rehman, Shaheen N. Khan, Tayyab Husnain, Sheikh Riazuddin, Thomas B. Friedman, Zubair M. Ahmed, Saima Riazuddin

Clin Genet. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Clin Genet. 2012 May; 81(5): 498–500. Published online 2011 Dec 28. doi: 10.1111/j.1399-0004.2011.01729.x

PMCID:: PMC3320688

Article PDF–567K

Select item 137800710.

Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.

F Zara, E Gennaro, M Stabile, I Carbone, M Malacarne, L Majello, R Santangelo, F A de Falco, F D Bricarelli

Am J Hum Genet. 2000 May; 66(5): 1552–1557. Published online 2000 Mar 30. doi: 10.1086/302876

PMCID:: PMC1378007

Summary PDF–192K

Select item 457077411.

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

Amina Bakhchane, Majida Charif, Sara Salime, Redouane Boulouiz, Halima Nahili, Rachida Roky, Guy Lenaers, Abdelhamid Barakat

PLoS One. 2015; 10(9): e0138072. Published online 2015 Sep 15. doi: 10.1371/journal.pone.0138072

PMCID:: PMC4570774

Abstract Article PDF–941K

Select item 426768512.

TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss

Hela Azaiez, Kevin T. Booth, Fengxiao Bu, Patrick Huygen, Seiji Shibata, A. Eliot Shearer, Diana Kolbe, Nicole Meyer, E. Ann Black-Ziegelbein, Richard J.H. Smith

Hum Mutat. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Hum Mutat. 2014 Jul; 35(7): 819–823. Published online 2014 May 6. doi: 10.1002/humu.22557

PMCID:: PMC4267685

Abstract Article PDF–218K

Select item 759872013.

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness

Risa Tona, Ivan A. Lopez, Cristina Fenollar-Ferrer, Rabia Faridi, Claudio Anselmi, Asma A. Khan, Mohsin Shahzad, Robert J. Morell, Shoujun Gu, Michael Hoa, Lijin Dong, Akira Ishiyama, Inna A. Belyantseva, Sheikh Riazuddin, Thomas B. Friedman

Genes (Basel) 2020 Oct; 11(10): 1122. Published online 2020 Sep 24. doi: 10.3390/genes11101122

PMCID:: PMC7598720

Abstract Article PDF–6.3M

Select item 293334214.

A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

Mark A. Corbett, Melanie Bahlo, Lachlan Jolly, Zaid Afawi, Alison E. Gardner, Karen L. Oliver, Stanley Tan, Amy Coffey, John C. Mulley, Leanne M. Dibbens, Walid Simri, Adel Shalata, Sara Kivity, Graeme D. Jackson, Samuel F. Berkovic, Jozef Gecz

Am J Hum Genet. 2010 Sep 10; 87(3): 371–375. doi: 10.1016/j.ajhg.2010.08.001

PMCID:: PMC2933342

Abstract Article PDF–618K

Select item 293333515.

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

Antonio Falace, Fabia Filipello, Veronica La Padula, Nicola Vanni, Francesca Madia, Davide De Pietri Tonelli, Fabrizio A. de Falco, Pasquale Striano, Franca Dagna Bricarelli, Carlo Minetti, Fabio Benfenati, Anna Fassio, Federico Zara

Am J Hum Genet. 2010 Sep 10; 87(3): 365–370. doi: 10.1016/j.ajhg.2010.07.020

PMCID:: PMC2933335

Abstract Article PDF–835K

Select item 636027316.

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

Mattéa J Finelli, Davide Aprile, Enrico Castroflorio, Alexander Jeans, Matteo Moschetta, Lauren Chessum, Matteo T Degiacomi, Julia Grasegger, Alexis Lupien-Meilleur, Andrew Bassett, Elsa Rossignol, Philippe M Campeau, Michael R Bowl, Fabio Benfenati, Anna Fassio, Peter L Oliver

Hum Mol Genet. 2019 Feb 15; 28(4): 584–597. Published online 2018 Oct 17. doi: 10.1093/hmg/ddy370

PMCID:: PMC6360273

Abstract Article PDF–21M

Select item 206485417.

Functional dissection of Rab GTPases involved in primary cilium formation

Shin-ichiro Yoshimura, Johannes Egerer, Evelyn Fuchs, Alexander K. Haas, Francis A. Barr

J Cell Biol. 2007 Jul 30; 178(3): 363–369. doi: 10.1083/jcb.200703047

PMCID:: PMC2064854

Abstract Article PDF–3.8M

Select item 352727618.

A Synthetic Interaction Screen Identifies Factors Selectively Required for Proliferation and TERT Transcription in p53-Deficient Human Cancer Cells

Li Xie, Claude Gazin, Sung Mi Park, Lihua J. Zhu, Marie-anne Debily, Ellen L. W. Kittler, Maria L. Zapp, David Lapointe, Stephane Gobeil, Ching-Man Virbasius, Michael R. Green

PLoS Genet. 2012 Dec; 8(12): e1003151. Published online 2012 Dec 20. doi: 10.1371/journal.pgen.1003151

PMCID:: PMC3527276

Abstract Article PDF–1.8M

Select item 596587219.

Alterations in the brain interactome of the intrinsically disordered N-terminal domain of the cellular prion protein (PrP^C) in Alzheimer’s disease

Sarah Ulbrich, Petra Janning, Ralf Seidel, Jakob Matschke, Anika Gonsberg, Sebastian Jung, Markus Glatzel, Martin Engelhard, Konstanze F. Winklhofer, Jörg Tatzelt

PLoS One. 2018; 13(5): e0197659. Published online 2018 May 23. doi: 10.1371/journal.pone.0197659

PMCID:: PMC5965872

Abstract Article PDF–2.4M

Select item 638658820.

The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2

Joanna R. Kovalski, Aparna Bhaduri, Ashley M. Zehnder, Poornima H. Neela, Yonglu Che, Glenn G. Wozniak, Paul A. Khavari

Mol Cell. Author manuscript; available in PMC 2020 Feb 21.

Published in final edited form as: Mol Cell. 2019 Feb 21; 73(4): 830–844.e12. Published online 2019 Jan 10. doi: 10.1016/j.molcel.2018.12.001

PMCID:: PMC6386588

Abstract Article PDF–1.7M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 33

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity