PMC Links for Gene (Select 10743) - PMC

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Select item 110498811.

Allele-Specific Regulation of the Candidate Autism Liability Gene RAI1 by the Enhancer Variant rs4925102 (C/G)

Xi Yuan, Li Chen, David Saffen

Genes (Basel) 2024 Apr; 15(4): 460. Published online 2024 Apr 6. doi: 10.3390/genes15040460

PMCID:: PMC11049881

Abstract Article PDF–1.8M

Select item 104539042.

Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant

Cathelijne C. Linders, Agnies M. van Eeghen, Janneke R. Zinkstok, Marie-José van den Boogaard, Erik Boot

Genes (Basel) 2023 Aug; 14(8): 1514. Published online 2023 Jul 25. doi: 10.3390/genes14081514

PMCID:: PMC10453904

Abstract Article PDF–666K

Select item 85190853.

Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome

Erik Boot, Cathelijne C. Linders, Sterre H. Tromp, Marie‐José van den Boogaard, Agnies M. van Eeghen

Am J Med Genet A. 2021 Oct; 185(10): 3167–3169. Published online 2021 Jun 4. doi: 10.1002/ajmg.a.62380

PMCID:: PMC8519085

Article PDF–420K

Select item 66991564.

Twenty-four-Hour Motor Activity and Body Temperature Patterns Suggest Altered Central Circadian Timekeeping in Smith-Magenis Syndrome, a Neurodevelopmental Disorder

Ann C.M. Smith, Rebecca S. Morse, Wendy Introne, Wallace C. Duncan, Jr

Am J Med Genet A. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: Am J Med Genet A. 2019 Feb; 179(2): 224–236. doi: 10.1002/ajmg.a.61003

PMCID:: PMC6699156

Abstract Article PDF–1.2M

Select item 58549575.

Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea–related Quantitative Trait Locus in Men

Han Chen, Brian E. Cade, Kevin J. Gleason, Andrew C. Bjonnes, Adrienne M. Stilp, Tamar Sofer, Matthew P. Conomos, Sonia Ancoli-Israel, Raanan Arens, Ali Azarbarzin, Graeme I. Bell, Jennifer E. Below, Sung Chun, Daniel S. Evans, Ralf Ewert, Alexis C. Frazier-Wood, Sina A. Gharib, José Haba-Rubio, Erika W. Hagen, Raphael Heinzer, David R. Hillman, W. Craig Johnson, Zoltan Kutalik, Jacqueline M. Lane, Emma K. Larkin, Seung Ku Lee, Jingjing Liang, Jose S. Loredo, Sutapa Mukherjee, Lyle J. Palmer, George J. Papanicolaou, Thomas Penzel, Paul E. Peppard, Wendy S. Post, Alberto R. Ramos, Ken Rice, Jerome I. Rotter, Scott A. Sands, Neomi A. Shah, Chol Shin, Katie L. Stone, Beate Stubbe, Jae Hoon Sul, Mehdi Tafti, Kent D. Taylor, Alexander Teumer, Timothy A. Thornton, Gregory J. Tranah, Chaolong Wang, Heming Wang, Simon C. Warby, D. Andrew Wellman, Phyllis C. Zee, Craig L. Hanis, Cathy C. Laurie, Daniel J. Gottlieb, Sanjay R. Patel, Xiaofeng Zhu, Shamil R. Sunyaev, Richa Saxena, Xihong Lin, Susan Redline

Am J Respir Cell Mol Biol. 2018 Mar; 58(3): 391–401. doi: 10.1165/rcmb.2017-0237OC

PMCID:: PMC5854957

Abstract Article PDF–846K

Select item 43410046.

Expression in the human brain of retinoic acid induced 1, a protein associated with neurobehavioural disorders

Yara Dadalti Fragoso, Patrick N. Stoney, Kirsty D. Shearer, Angelo Sementilli, Sonia E. Nanescu, Pietro Sementilli, Peter McCaffery

Brain Struct Funct. 2015; 220(2): 1195–1203. Published online 2014 Feb 12. doi: 10.1007/s00429-014-0712-1

PMCID:: PMC4341004

Abstract Article PDF–6.8M

Select item 34455747.

RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome

Paulina Carmona-Mora, Cesar P. Canales, Lei Cao, Irene C. Perez, Anand K. Srivastava, Juan I. Young, Katherina Walz

PLoS One. 2012; 7(9): e45155. Published online 2012 Sep 18. doi: 10.1371/journal.pone.0045155

PMCID:: PMC3445574

Abstract Article PDF–1.0M

Select item 32609318.

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome

Gustavo H Vieira, Jayson D Rodriguez, Paulina Carmona-Mora, Lei Cao, Bruno F Gamba, Daniel R Carvalho, Andréa de Rezende Duarte, Suely R Santos, Deise H de Souza, Barbara R DuPont, Katherina Walz, Danilo Moretti-Ferreira, Anand K Srivastava

Eur J Hum Genet. 2012 Feb; 20(2): 148–154. Published online 2011 Sep 7. doi: 10.1038/ejhg.2011.167

PMCID:: PMC3260931

Abstract Article PDF–511K

Select item 31525589.

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

Thierry Vilboux, Carla Ciccone, Jan K. Blancato, Gerald F. Cox, Charu Deshpande, Wendy J. Introne, William A. Gahl, Ann C. M. Smith, Marjan Huizing

PLoS One. 2011; 6(8): e22861. Published online 2011 Aug 8. doi: 10.1371/journal.pone.0022861

PMCID:: PMC3152558

Abstract Article PDF–683K

Select item 314060610.

Abnormal Circadian Rhythm of Melatonin in Smith-Magenis Syndrome Patients with RAI1 Point Mutations

Philip M. Boone, Russel J. Reiter, Daniel G. Glaze, Dun-Xian Tan, James R. Lupski, Lorraine Potocki

Am J Med Genet A. Author manuscript; available in PMC 2012 Aug 1.

Published in final edited form as: Am J Med Genet A. 2011 Aug; 155(8): 2024–2027. Published online 2011 Jul 7. doi: 10.1002/ajmg.a.34098

PMCID:: PMC3140606

Article PDF–122K

Select item 296453311.

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

Hoa T Truong, Tracy Dudding, Christopher L Blanchard, Sarah H Elsea

BMC Med Genet. 2010; 11: 142. Published online 2010 Oct 8. doi: 10.1186/1471-2350-11-142

PMCID:: PMC2964533

Abstract Article PDF–238K

Select item 293950412.

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome

Paulina Carmona-Mora, Carolina A Encina, Cesar P Canales, Lei Cao, Jessica Molina, Pamela Kairath, Juan I Young, Katherina Walz

BMC Mol Biol. 2010; 11: 63. Published online 2010 Aug 25. doi: 10.1186/1471-2199-11-63

PMCID:: PMC2939504

Abstract Article PDF–1.6M

Select item 259792913.

Genotype–phenotype correlation of 30 patients with Smith‐Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions

J Andrieux, C Villenet, S Quief, S Lignon, S Geffroy, C Roumier, H de Leersnyder, M‐C de Blois, S Manouvrier, B Delobel, B Benzacken, P Bitoun, T Attie‐Bitach, S Thomas, S Lyonnet, M Vekemans, J‐P Kerckaert

J Med Genet. 2007 Aug; 44(8): 537–540. Published online 2007 May 11. doi: 10.1136/jmg.2006.048736

PMCID:: PMC2597929

Abstract Article PDF–291K

Select item 173595014.

RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

S Girirajan, L Elsas, K Devriendt, S Elsea

J Med Genet. 2005 Nov; 42(11): 820–828. Published online 2005 Mar 23. doi: 10.1136/jmg.2005.031211

PMCID:: PMC1735950

Summary PDF–825K

Select item 502158915.

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy

Bo Yuan, Juanita Neira, Shen Gu, Tamar Harel, Pengfei Liu, Ignacio Briceño, Sarah H. Elsea, Alberto Gómez, Lorraine Potocki, James R. Lupski

Hum Genet. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Hum Genet. 2016 Oct; 135(10): 1161–1174. Published online 2016 Jul 7. doi: 10.1007/s00439-016-1703-5

PMCID:: PMC5021589

Abstract Article PDF–716K

Select item 466713116.

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

Bo Yuan, Tamar Harel, Shen Gu, Pengfei Liu, Lydie Burglen, Sandra Chantot-Bastaraud, Violet Gelowani, Christine R. Beck, Claudia M.B. Carvalho, Sau Wai Cheung, Andrew Coe, Valérie Malan, Arnold Munnich, Pilar L. Magoulas, Lorraine Potocki, James R. Lupski

Am J Hum Genet. 2015 Nov 5; 97(5): 691–707. Published online 2015 Nov 5. doi: 10.1016/j.ajhg.2015.10.003