Rett Syndrome

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"Rett Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)

Descriptor ID	D015518
MeSH Number(s)	C10.597.606.643.455.937 C16.320.322.500.937 C16.320.400.525.937
Concept/Terms	Rett Syndrome Rett Syndrome Syndrome, Rett Cerebroatrophic Hyperammonemia Cerebroatrophic Hyperammonemias Hyperammonemia, Cerebroatrophic Hyperammonemias, Cerebroatrophic Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use Rett's Disorder Rett's Syndrome Retts Syndrome Syndrome, Rett's Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome Rett Disorder

Below are MeSH descriptors whose meaning is more general than "Rett Syndrome".

Diseases [C]
Nervous System Diseases [C10]
Neurologic Manifestations [C10.597]
Neurobehavioral Manifestations [C10.597.606]
Intellectual Disability [C10.597.606.643]
Mental Retardation, X-Linked [C10.597.606.643.455]
Rett Syndrome [C10.597.606.643.455.937]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Genetic Diseases, X-Linked [C16.320.322]
Mental Retardation, X-Linked [C16.320.322.500]
Rett Syndrome [C16.320.322.500.937]
Heredodegenerative Disorders, Nervous System [C16.320.400]
Mental Retardation, X-Linked [C16.320.400.525]
Rett Syndrome [C16.320.400.525.937]

Below are MeSH descriptors whose meaning is related to "Rett Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Rett Syndrome".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Rett Syndrome" by people in this website by year, and whether "Rett Syndrome" was a major or minor topic of these publications.

Bar chart showing 7 publications over 7 distinct years, with a maximum of 1 publications in 2006 and 2008 and 2014 and 2015 and 2016 and 2017 and 2018

To see the data from this visualization as text, click here.

Year	Major Topic	Total
2006	1	1
2008	1	1
2014	1	1
2015	1	1
2016	1	1
2017	1	1
2018	1	1

Below are the most recent publications written about "Rett Syndrome" by people in Profiles.

Przanowski P, Wasko U, Zheng Z, Yu J, Sherman R, Zhu LJ, McConnell MJ, Tushir-Singh J, Green MR, Bhatnagar S. Pharmacological reactivation of inactive X-linked Mecp2 in cerebral cortical neurons of living mice. Proc Natl Acad Sci U S A. 2018 07 31; 115(31):7991-7996.

View in: PubMed
Pacheco NL, Heaven MR, Holt LM, Crossman DK, Boggio KJ, Shaffer SA, Flint DL, Olsen ML. RNA sequencing and proteomics approaches reveal novel deficits in the cortex of Mecp2-deficient mice, a model for Rett syndrome. Mol Autism. 2017; 8:56.

View in: PubMed
Schafer DP, Heller CT, Gunner G, Heller M, Gordon C, Hammond T, Wolf Y, Jung S, Stevens B. Microglia contribute to circuit defects in Mecp2 null mice independent of microglia-specific loss of Mecp2 expression. Elife. 2016 07 26; 5.

View in: PubMed
Schafer DP, Stevens B. Brains, Blood, and Guts: MeCP2 Regulates Microglia, Monocytes, and Peripheral Macrophages. Immunity. 2015 Apr 21; 42(4):600-2.

View in: PubMed
Cronk JC, Derecki NC, Ji E, Xu Y, Lampano AE, Smirnov I, Baker W, Norris GT, Marin I, Coddington N, Wolf Y, Turner SD, Aderem A, Klibanov AL, Harris TH, Jung S, Litvak V, Kipnis J. Methyl-CpG Binding Protein 2 Regulates Microglia and Macrophage Gene Expression in Response to Inflammatory Stimuli. Immunity. 2015 Apr 21; 42(4):679-91.

View in: PubMed
Bhatnagar S, Zhu X, Ou J, Lin L, Chamberlain L, Zhu LJ, Wajapeyee N, Green MR. Genetic and pharmacological reactivation of the mammalian inactive X chromosome. Proc Natl Acad Sci U S A. 2014 Sep 02; 111(35):12591-8.

View in: PubMed
Long SW, Ooi JY, Yau PM, Jones PL. A brain-derived MeCP2 complex supports a role for MeCP2 in RNA processing. Biosci Rep. 2011 Oct; 31(5):333-43.

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Forlani G, Giarda E, Ala U, Di Cunto F, Salani M, Tupler R, Kilstrup-Nielsen C, Landsberger N. The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. Hum Mol Genet. 2010 Aug 15; 19(16):3114-23.

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Ghosh RP, Horowitz-Scherer RA, Nikitina T, Gierasch LM, Woodcock CL. Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions. J Biol Chem. 2008 Jul 18; 283(29):20523-34.

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Akbarian S, Jiang Y, Laforet G. The molecular pathology of Rett syndrome: synopsis and update. Neuromolecular Med. 2006; 8(4):485-94.

View in: PubMed

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