PMC Links for Gene (Select 85301) - PMC

Select item 76084411.

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Claudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, Alper Gezdirici, Yavuz Bayram, Kalyan C. Nannuru, Davut Pehlivan, Bo Yuan, Johanna Jimenez, Yavuz Sahin, Ingrid S. Paine, Zeynep Coban Akdemir, Saathyaki Rajamani, Jeffrey Staples, John Dronzek, Kristen Howell, Jawid M. Fatih, Silvia Smaldone, Alan E. Schlesinger, Norman Ramírez, Alberto S. Cornier, Melissa A. Kelly, Robert Haber, Shek Man Chim, Kristy Nieman, Nan Wu, Johnathon Walls, Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center, William Poueymirou, Chia-Jen Siao, V. Reid Sutton, Marc S. Williams, Jennifer E. Posey, Richard A. Gibbs, Simon Carlo, David H. Tegay, Aris N. Economides, James R. Lupski

Eur J Hum Genet. 2020 Sep; 28(9): 1243–1264. Published online 2020 May 6. doi: 10.1038/s41431-020-0632-x

PMCID:: PMC7608441

Abstract Article PDF–5.6M

Select item 45226692.

Support of positive association in family-based genetic analysis between COL27A1 and Tourette syndrome

Shiguo Liu, Xiaoxia Yu, Quanchen Xu, Jiajia Cui, Mingji Yi, Xinhua Zhang, Yinlin Ge, Xu Ma

Sci Rep. 2015; 5: 12687. Published online 2015 Aug 3. doi: 10.1038/srep12687

PMCID:: PMC4522669

Abstract Article PDF–240K

Select item 43267043.

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

Claudia Gonzaga-Jauregui, Candace N Gamble, Bo Yuan, Samantha Penney, Shalini Jhangiani, Donna M Muzny, Richard A Gibbs, James R Lupski, Jacqueline T Hecht

Eur J Hum Genet. 2015 Mar; 23(3): 342–346. Published online 2014 Jul 2. doi: 10.1038/ejhg.2014.107

PMCID:: PMC4326704

Abstract Article PDF–1.4M

Select item 67137254.

Genome-wide association study of knee pain identifies associations with GDF5 and COL27A1 in UK Biobank

Weihua Meng, Mark J. Adams, Colin N. A. Palmer, The 23andMe Research Team, Jingchunzi Shi, Adam Auton, Kathleen A. Ryan, Joanne M. Jordan, Braxton D. Mitchell, Rebecca D. Jackson, Michelle S. Yau, Andrew M. McIntosh, Blair H. Smith

Commun Biol. 2019; 2: 321. Published online 2019 Aug 28. doi: 10.1038/s42003-019-0568-2

Correction in:: Commun Biol. 2020; 3: 149.

PMCID:: PMC6713725

Abstract Article PDF–1.0M

Select item 62018905.

Defining the molecular signatures of Achilles tendinopathy and anterior cruciate ligament ruptures: A whole-exome sequencing approach

Andrea Gibbon, Colleen J. Saunders, Malcolm Collins, Junaid Gamieldien, Alison V. September

PLoS One. 2018; 13(10): e0205860. Published online 2018 Oct 25. doi: 10.1371/journal.pone.0205860

PMCID:: PMC6201890

Abstract Article PDF–2.0M

Select item 32059946.

The new collagen gene COL27A1 contains SOX9-responsive enhancer elements

Elizabeth Jenkins, Jennie B. Moss, James M. Pace, Laura C. Bridgewater

Matrix Biol. Author manuscript; available in PMC 2011 Nov 1.

Published in final edited form as: Matrix Biol. 2005 May; 24(3): 177–184. Published online 2005 Apr 22. doi: 10.1016/j.matbio.2005.02.004

PMCID:: PMC3205994

Abstract Article PDF–1.3M

Select item 36052247.

Genome-wide association study of Tourette Syndrome

Jeremiah M. Scharf, Dongmei Yu, Carol A. Mathews, Benjamin M. Neale, S. Evelyn Stewart, Jesen A Fagerness, Patrick Evans, Eric Gamazon, Christopher K. Edlund, Susan Service, Anna Tikhomirov, Lisa Osiecki, Cornelia Illmann, Anna Pluzhnikov, Anuar Konkashbaev, Lea K Davis, Buhm Han, Jacquelyn Crane, Priya Moorjani, Andrew T. Crenshaw, Melissa A. Parkin, Victor I. Reus, Thomas L. Lowe, Martha Rangel-Lugo, Sylvain Chouinard, Yves Dion, Simon Girard, Danielle C Cath, Jan H Smit, Robert A. King, Thomas Fernandez, James F. Leckman, Kenneth K. Kidd, Judith R. Kidd, Andrew J. Pakstis, Matthew State, Luis Diego Herrera, Roxana Romero, Eduardo Fournier, Paul Sandor, Cathy L Barr, Nam Phan, Varda Gross-Tsur, Fortu Benarroch, Yehuda Pollak, Cathy L. Budman, Ruth D. Bruun, Gerald Erenberg, Allan L Naarden, Paul C Lee, Nicholas Weiss, Barbara Kremeyer, Gabriel Bedoya Berrío, Desmond Campbell, Julio C. Cardona Silgado, William Cornejo Ochoa, Sandra C. Mesa Restrepo, Heike Muller, Ana V. Valencia Duarte, Gholson J Lyon, Mark Leppert, Jubel Morgan, Robert Weiss, Marco A. Grados, Kelley Anderson, Sarah Davarya, Harvey Singer, John Walkup, Joseph Jankovic, Jay A. Tischfield, Gary A. Heiman, Donald L. Gilbert, Pieter J. Hoekstra, Mary M. Robertson, Roger Kurlan, Chunyu Liu, J. Raphael Gibbs, Andrew Singleton, John Hardy, Eric Strengman, Roel Ophoff, Michael Wagner, Rainald Moessner, Daniel B. Mirel, Danielle Posthuma, Chiara Sabatti, Eleazar Eskin, David V. Conti, James A. Knowles, Andres Ruiz-Linares, Guy A. Rouleau, Shaun Purcell, Peter Heutink, Ben A. Oostra, William McMahon, Nelson Freimer, Nancy J. Cox, David L. Pauls

Mol Psychiatry. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: Mol Psychiatry. 2013 Jun; 18(6): 721–728. Published online 2012 Aug 14. doi: 10.1038/mp.2012.69

PMCID:: PMC3605224

Abstract Article PDF–1.0M

Select item 39407288.

Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence

Beate St Pourcain, David H Skuse, William P Mandy, Kai Wang, Hakon Hakonarson, Nicholas J Timpson, David M Evans, John P Kemp, Susan M Ring, Wendy L McArdle, Jean Golding, George Davey Smith

Mol Autism. 2014; 5: 18. Published online 2014 Feb 24. doi: 10.1186/2040-2392-5-18

PMCID:: PMC3940728

Abstract Article PDF–962K

Select item 57308899.

The E3 ubiquitin ligase APC/C^C^dh1 degrades MCPH1 after MCPH1‐βTrCP2‐Cdc25A‐mediated mitotic entry to ensure neurogenesis

Xiaoqian Liu, Wen Zong, Tangliang Li, Yujun Wang, Xingzhi Xu, Zhong‐Wei Zhou, Zhao‐Qi Wang

EMBO J. 2017 Dec 15; 36(24): 3666–3681. Published online 2017 Nov 17. doi: 10.15252/embj.201694443

PMCID:: PMC5730889

Abstract Article PDF–2.4M

Select item 273495410.

Candidate Gene/Loci Studies in Cleft Lip/Palate and Dental Anomalies Finds Novel Susceptibility Genes for Clefts

Alexandre R. Vieira, Toby G. McHenry, Sandra Daack-Hirsch, Jeffrey C. Murray, Mary L. Marazita

Genet Med. Author manuscript; available in PMC 2009 Aug 30.

Published in final edited form as: Genet Med. 2008 Sep; 10(9): 668–674. doi: 10.1097/GIM.0b013e3181833793

PMCID:: PMC2734954

Abstract Article PDF–50K

Select item 830719411.

Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation

Sun-Ok Kim, Kyoung Sang Cho, Bo Yeon Kim, Kyung Ho Lee

Int J Mol Sci. 2021 Jul; 22(14): 7572. Published online 2021 Jul 15. doi: 10.3390/ijms22147572

PMCID:: PMC8307194

Abstract Article PDF–2.8M

Select item 354626312.

Comparative analysis of virus-host interactomes with a mammalian high- throughput protein complementation assay based on Gaussia princeps luciferase

Grégory Neveu, Patricia Cassonnet, Pierre-Olivier Vidalain, Caroline Rolloy, José Mendoza, Louis Jones, Frédéric Tangy, Mandy Muller, Caroline Demeret, Lionel Tafforeau, Vincent Lotteau, Chantal Rabourdin-Combe, Gilles Travé, Amélie Dricot, David E. Hill, Marc Vidal, Michel Favre, Yves Jacob

Methods. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: Methods. 2012 Dec; 58(4): 349–359. Published online 2012 Aug 8. doi: 10.1016/j.ymeth.2012.07.029

PMCID:: PMC3546263

Abstract Article PDF–4.3M

Select item 801772013.

SLFN11 promotes CDT1 degradation by CUL4 in response to replicative DNA damage, while its absence leads to synthetic lethality with ATR/CHK1 inhibitors

Ukhyun Jo, Yasuhisa Murai, Sirisha Chakka, Lu Chen, Ken Cheng, Junko Murai, Liton Kumar Saha, Lisa M. Miller Jenkins, Yves Pommier

Proc Natl Acad Sci U S A. 2021 Feb 9; 118(6): e2015654118. Published online 2021 Feb 3. doi: 10.1073/pnas.2015654118

PMCID:: PMC8017720

Abstract Article PDF–1.9M

Select item 676324214.

Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development

Pu Wang, Feng Yan, Zhijun Li, Yanbao Yu, Scott E. Parnell, Yue Xiong

J Clin Invest. 2019 Oct 1; 129(10): 4393–4407. Published online 2019 Sep 9. doi: 10.1172/JCI129107

PMCID:: PMC6763242

Abstract Article PDF–12M

Select item 1015161515.

Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein–protein interactions in the human cell

Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low

Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120