Literature DB >> 21739587

Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.

Philip M Boone1, Russel J Reiter, Daniel G Glaze, Dun-Xian Tan, James R Lupski, Lorraine Potocki.   

Abstract

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Year:  2011        PMID： 21739587      PMCID： PMC3140606          DOI： 10.1002/ajmg.a.34098

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  34 in total

1.  Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

Authors:  Christine J Shaw; Weimin Bi; James R Lupski
Journal:  Am J Hum Genet       Date:  2002-10-09       Impact factor: 11.025

2.  Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome.

Authors:  H De Leersnyder; J L Bresson; M-C de Blois; J-C Souberbielle; A Mogenet; B Delhotal-Landes; F Salefranque; A Munnich
Journal:  J Med Genet       Date:  2003-01       Impact factor: 6.318

3.  Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

Authors:  Christopher N Vlangos; Dwight K C Yim; Sarah H Elsea
Journal:  Mol Genet Metab       Date:  2003-06       Impact factor: 4.797

4.  Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome.

Authors:  H De Leersnyder; M C De Blois; B Claustrat; S Romana; U Albrecht; J C Von Kleist-Retzow; B Delobel; G Viot; S Lyonnet; M Vekemans; A Munnich
Journal:  J Pediatr       Date:  2001-07       Impact factor: 4.406

5.  Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

Authors:  L Potocki; D Glaze; D X Tan; S S Park; C D Kashork; L G Shaffer; R J Reiter; J R Lupski
Journal:  J Med Genet       Date:  2000-06       Impact factor: 6.318

6.  Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.

Authors:  N Liburd; M Ghosh; S Riazuddin; S Naz; S Khan; Z Ahmed; S Riazuddin; Y Liang; P S Menon; T Smith; A C Smith; K S Chen; J R Lupski; E R Wilcox; L Potocki; T B Friedman
Journal:  Hum Genet       Date:  2001-10-03       Impact factor: 4.132

7.  Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.

Authors:  Weimin Bi; Jiong Yan; Pawe Stankiewicz; Sung-Sup Park; Katherina Walz; Cornelius F Boerkoel; Lorraine Potocki; Lisa G Shaffer; Koen Devriendt; Magorzata J M Nowaczyk; Ken Inoue; James R Lupski
Journal:  Genome Res       Date:  2002-05       Impact factor: 9.043

8.  beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome.

Authors:  H De Leersnyder; M C de Blois; M Vekemans; D Sidi; E Villain; C Kindermans; A Munnich
Journal:  J Med Genet       Date:  2001-09       Impact factor: 6.318

9.  Mutations in RAI1 associated with Smith-Magenis syndrome.

Authors:  Rebecca E Slager; Tiffany Lynn Newton; Christopher N Vlangos; Brenda Finucane; Sarah H Elsea
Journal:  Nat Genet       Date:  2003-03-24       Impact factor: 38.330

10.  Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.

Authors:  Guénola Ricard; Jessica Molina; Jacqueline Chrast; Wenli Gu; Nele Gheldof; Sylvain Pradervand; Frédéric Schütz; Juan I Young; James R Lupski; Alexandre Reymond; Katherina Walz
Journal:  PLoS Biol       Date:  2010-11-23       Impact factor: 8.029
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  15 in total

Review 1.  Yin-yang actions of histone methylation regulatory complexes in the brain.

Authors:  Patricia Marie Garay; Margarete Aryanka Wallner; Shigeki Iwase
Journal:  Epigenomics       Date:  2016-11-18       Impact factor: 4.778

Review 2.  Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes.

Authors:  Juanita Neira-Fresneda; Lorraine Potocki
Journal:  J Pediatr Genet       Date:  2015-09-28

3.  Objective measures of sleep disturbances in children with Potocki-Lupski syndrome.

Authors:  Kevin Kaplan; Caroline McCool; James R Lupski; Daniel Glaze; Lorraine Potocki
Journal:  Am J Med Genet A       Date:  2019-07-24       Impact factor: 2.802

4.  MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.

Authors:  Sureni V Mullegama; Loren Pugliesi; Brooke Burns; Zalak Shah; Raiha Tahir; Yanghong Gu; David L Nelson; Sarah H Elsea
Journal:  Eur J Hum Genet       Date:  2014-10-01       Impact factor: 4.246

Review 5.  Rhythms of life: circadian disruption and brain disorders across the lifespan.

Authors:  Ryan W Logan; Colleen A McClung
Journal:  Nat Rev Neurosci       Date:  2019-01       Impact factor: 34.870

6.  Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1.

Authors:  Melanie Lacaria; Wenli Gu; James R Lupski
Journal:  Am J Med Genet A       Date:  2013-05-23       Impact factor: 2.802

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

Authors:  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
Journal:  Am J Respir Cell Mol Biol       Date:  2018-03       Impact factor: 6.914

8.  Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.

Authors:  Stephen R Williams; Deborah Zies; Sureni V Mullegama; Michael S Grotewiel; Sarah H Elsea
Journal:  Am J Hum Genet       Date:  2012-05-10       Impact factor: 11.025

9.  N6-methyladenosine demethylase ALKBH5 suppresses malignancy of esophageal cancer by regulating microRNA biogenesis and RAI1 expression.

Authors:  Pengxiang Chen; Song Li; Ke Zhang; Renchang Zhao; Jianfeng Cui; Wei Zhou; Yuchen Liu; Lin Zhang; Yufeng Cheng
Journal:  Oncogene       Date:  2021-07-26       Impact factor: 9.867

10.  Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.

Authors:  Alice Poisson; Alain Nicolas; Pierre Cochat; Damien Sanlaville; Caroline Rigard; Hélène de Leersnyder; Patricia Franco; Vincent Des Portes; Patrick Edery; Caroline Demily
Journal:  Orphanet J Rare Dis       Date:  2015-09-04       Impact factor: 4.123
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