PMC Links for Gene (Select 91147) - PMC

Links from Gene

Items: 1 to 20 of 30

<< First< Prev

Page of 2

Next >Last >>

Select item 69935221.

Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report

Thi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, Hoai-Nghia Nguyen, Thi Thanh Ha Ly, Huy Duong Do, Minh-Tuan Huynh

BMC Med Genet. 2020; 21: 18. Published online 2020 Jan 30. doi: 10.1186/s12881-020-0962-0

PMCID:: PMC6993522

Abstract Article PDF–1.0M

Select item 61173432.

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

Francesco Brancati, Letizia Camerota, Emma Colao, Virginia Vega-Warner, Xiangzhong Zhao, Ruixiao Zhang, Irene Bottillo, Marco Castori, Alfredo Caglioti, Federica Sangiuolo, Giuseppe Novelli, Nicola Perrotti, Edgar A. Otto, Undiagnosed Disease Network Italy

Eur J Hum Genet. 2018 Sep; 26(9): 1266–1271. Published online 2018 Jun 11. doi: 10.1038/s41431-018-0183-6

PMCID:: PMC6117343

Abstract Article PDF–1.4M

Select item 29187813.

Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies

Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Céline Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltshauser, Pierangela Castorina, Stefano D'Arrigo, Rita Fischetto, Brigitte Leroy, Philippe Loget, Maryse Bonnière, Lena Starck, Julia Tantau, Barbara Gentilin, Silvia Majore, Dominika Swistun, Elizabeth Flori, Faustina Lalatta, Chiara Pantaleoni, Johannes.Penzien, Paola Grammatico, the International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson, Tania Attie-Bitach, Enza Maria Valente

Hum Mutat. Author manuscript; available in PMC 2011 May 1.

Published in final edited form as: Hum Mutat. 2010 May; 31(5): E1319–E1331. doi: 10.1002/humu.21239

PMCID:: PMC2918781

Abstract Article PDF–166K

Select item 85659054.

Structure of the human Meckel-Gruber protein Meckelin

Dongliang Liu, Dandan Qian, Huaizong Shen, Deshun Gong

Sci Adv. 2021 Nov; 7(45): eabj9748. Published online 2021 Nov 3. doi: 10.1126/sciadv.abj9748

PMCID:: PMC8565905

Abstract Article PDF–1.1M

Select item 26354285.

MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement

Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D’Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi, Mattia Gentile, Damir Loncarevic, Vlatka Mejaski-Bosnjak, Chiara Pantaleoni, Luciana Rigoli, Carmelo D. Salpietro, Sabrina Signorini, Gilda Rita Stringini, Alain Verloes, Dominika Zabloka, Bruno Dallapiccola, Joseph G. Gleeson, Enza Maria Valente

Hum Mutat. Author manuscript; available in PMC 2010 Feb 1.

Published in final edited form as: Hum Mutat. 2009 Feb; 30(2): E432–E442. doi: 10.1002/humu.20924

PMCID:: PMC2635428

Abstract Article PDF–347K

Select item 17853136.

The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

Lekbir Baala, Stéphane Romano, Rana Khaddour, Sophie Saunier, Ursula M. Smith, Sophie Audollent, Catherine Ozilou, Laurence Faivre, Nicole Laurent, Bernard Foliguet, Arnold Munnich, Stanislas Lyonnet, Rémi Salomon, Férechté Encha-Razavi, Marie-Claire Gubler, Nathalie Boddaert, Pascale de Lonlay, Colin A. Johnson, Michel Vekemans, Corinne Antignac, Tania Attié-Bitach

Am J Hum Genet. 2007 Jan; 80(1): 186–194. Published online 2006 Nov 15. doi: 10.1086/510499

PMCID:: PMC1785313

Abstract Article PDF–2.0M

Select item 91226507.

Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans

Karen I Lange, Sunayna Best, Sofia Tsiropoulou, Ian Berry, Colin A Johnson, Oliver E Blacque

Hum Mol Genet. 2022 May 15; 31(10): 1574–1587. Published online 2021 Nov 20. doi: 10.1093/hmg/ddab344

PMCID:: PMC9122650

Abstract Article PDF–1.8M

Select item 35019598.

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

D Doherty, M A Parisi, L S Finn, M Gunay-Aygun, M Al-Mateen, D Bates, C Clericuzio, H Demir, M Dorschner, A J van Essen, W A Gahl, M Gentile, N T Gorden, A Hikida, D Knutzen, H Özyurek, I Phelps, P Rosenthal, A Verloes, H Weigand, P F Chance, W B Dobyns, I A Glass

J Med Genet. Author manuscript; available in PMC 2012 Nov 20.

Published in final edited form as: J Med Genet. 2010 Jan; 47(1): 8–21. Published online 2009 Jul 1. doi: 10.1136/jmg.2009.067249

PMCID:: PMC3501959

Abstract Article PDF–1.1M

Select item 57182739.

Prospective Evaluation of Kidney Disease in Joubert Syndrome

Leah R. Fleming, Daniel A. Doherty, Melissa A. Parisi, Ian A. Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter Choyke, Kailash Daryanani, Meghana Vemulapalli, James C. Mullikin, May Christine Malicdan, Thierry Vilboux, John A. Sayer, William A. Gahl, Meral Gunay-Aygun

Clin J Am Soc Nephrol. 2017 Dec 7; 12(12): 1962–1973. Published online 2017 Nov 16. doi: 10.2215/CJN.05660517

PMCID:: PMC5718273

Abstract Article

Select item 369564910.

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity

Amanda C. Leightner, Cynthia J. Hommerding, Ying Peng, Jeffrey L. Salisbury, Vladimir G. Gainullin, Peter G. Czarnecki, Caroline R. Sussman, Peter C. Harris

Hum Mol Genet. 2013 May 15; 22(10): 2024–2040. Published online 2013 Feb 7. doi: 10.1093/hmg/ddt054

PMCID:: PMC3695649

Abstract Article PDF–1.2M

Select item 273382111.

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

Rachaneekorn Tammachote, Cynthia J. Hommerding, Rachel M. Sinders, Caroline A. Miller, Peter G. Czarnecki, Amanda C. Leightner, Jeffrey L. Salisbury, Christopher J. Ward, Vicente E. Torres, Vincent H. Gattone, II, Peter C. Harris

Hum Mol Genet. 2009 Sep 1; 18(17): 3311–3323. Published online 2009 Jun 10. doi: 10.1093/hmg/ddp272

PMCID:: PMC2733821

Abstract Article PDF–757K

Select item 557902012.

Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome

So-Hyun Lee, Tai-Seung Nam, Wenting Li, Jung Ha Kim, Woong Yoon, Yoo-Duk Choi, Kun-Hee Kim, Hua Cai, Min Jung Kim, Changsoo Kim, Hyon E. Choy, Nacksung Kim, Kee Oh Chay, Myeong-Kyu Kim, Seok-Yong Choi

Sci Rep. 2017; 7: 10222. Published online 2017 Aug 31. doi: 10.1038/s41598-017-10652-z

PMCID:: PMC5579020

Abstract Article PDF–2.7M

Select item 290931813.

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

Helen R. Dawe, Matthew Adams, Gabrielle Wheway, Katarzyna Szymanska, Clare V. Logan, Angelika A. Noegel, Keith Gull, Colin A. Johnson

J Cell Sci. 2009 Aug 1; 122(15): 2716–2726. Published online 2009 Jul 13. doi: 10.1242/jcs.043794

PMCID:: PMC2909318

Abstract Article

Select item 328411714.

A meckelin–filamin A interaction mediates ciliogenesis

Matthew Adams, Roslyn J. Simms, Zakia Abdelhamed, Helen R. Dawe, Katarzyna Szymanska, Clare V. Logan, Gabrielle Wheway, Eva Pitt, Keith Gull, Margaret A. Knowles, Edward Blair, Sally H. Cross, John A. Sayer, Colin A. Johnson

Hum Mol Genet. 2012 Mar 15; 21(6): 1272–1286. Published online 2011 Nov 25. doi: 10.1093/hmg/ddr557

PMCID:: PMC3284117

Abstract Article PDF–722K

Select item 278518115.

Meckel-Gruber Syndrome Protein MKS3 Is Required for Endoplasmic Reticulum-associated Degradation of Surfactant Protein C

Mei Wang, James P. Bridges, Cheng-Lun Na, Yan Xu, Timothy E. Weaver

J Biol Chem. 2009 Nov 27; 284(48): 33377–33383. Published online 2009 Oct 8. doi: 10.1074/jbc.M109.034371

PMCID:: PMC2785181

Abstract Article PDF–1.3M

Select item 445703316.

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

Zakia A. Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, Christopher F. Inglehearn, Carmel Toomes, Colin A. Johnson, Daniel J. Jagger

Dis Model Mech. 2015 Jun 1; 8(6): 527–541. doi: 10.1242/dmm.019083

PMCID:: PMC4457033

Abstract Article

Select item 391304317.

Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy

Edgar A. Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J. Allen, Weibin Zhou, Rannar Airik, Toby W. Hurd, Amiya K. Ghosh, Matthias T. Wolf, Bernd Hoppe, Thomas J. Neuhaus, Detlef Bockenhauer, David V. Milford, Neveen A. Soliman, the GPN Study Group, Corinne Antignac, Sophie Saunier, Colin A. Johnson, Friedhelm Hildebrandt

J Med Genet. Author manuscript; available in PMC 2014 Feb 4.

Published in final edited form as: J Med Genet. 2011 Feb; 48(2): 105–116. Published online 2010 Nov 10. doi: 10.1136/jmg.2010.082552

Correction in:: J Med Genet. 2015 Dec; 52(12): 866.

PMCID:: PMC3913043

Abstract Article PDF–3.0M

Select item 558080018.

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

Nils J. Lambacher, Ange-Line Bruel, Teunis J. P. van Dam, Katarzyna Szymańska, Gisela G. Slaats, Stefanie Kuhns, Gavin J. McManus, Julie E. Kennedy, Karl Gaff, Ka Man Wu, Robin van der Lee, Lydie Burglen, Diane Doummar, Jean-Baptiste Rivière, Laurence Faivre, Tania Attié-Bitach, Sophie Saunier, Alistair Curd, Michelle Peckham, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Christel Thauvin-Robinet, Oliver E. Blacque

Nat Cell Biol. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Nat Cell Biol. 2016 Jan; 18(1): 122–131. Published online 2015 Nov 23. doi: 10.1038/ncb3273

PMCID:: PMC5580800

Abstract Article PDF–2.4M

Select item 488219019.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Abstract Article PDF–1.9M

Select item 923162320.

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

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 30

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity