A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation-Reference-Cited by-同舟云学术

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation

Published:2018-05-24 Issue:2 Volume:7 Page:31
ISSN:2079-7737
Container-title:Biology
language:en
Short-container-title:Biology

Author:

Abad Clemer,Cook Melissa,Cao Lei,Jones Julie,Rao Nalini,Dukes-Rimsky Lynn,Pauly Rini,Skinner Cindy,Wang Yunsheng,Luo Feng,Stevenson Roger,Walz Katherina,Srivastava Anand

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

MDPI AG

Subject

General Agricultural and Biological Sciences,General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology

Link

http://www.mdpi.com/2079-7737/7/2/31/pdf

Reference42 articles.

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2. Overview of Smith-Magenis Syndrome;Smith;J. Assoc. Genet. Technol.,2005

3. Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

4. Neurologic and Developmental Features of the Smith-Magenis Syndrome (del 17p11.2)

5. Autism spectrum features in Smith-Magenis syndrome

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1. Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the RAI1 and FLII Genes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome;MOL SYNDROMOL;2024

2. Smith–Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling;eLife;2023-11-13

3. Smith–Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling;eLife;2023-11-13

4. Whole Exome Sequencing on a multiplex family of Indian origin identifies mutations at 17p11.2 in siblings with autism spectrum disorders: implications to understanding the pathophysiology from syndromic variants.;2023-10-16

5. Psychiatric and neurological manifestations in adults with Smith–Magenis syndrome: A scoping review;American Journal of Medical Genetics Part B: Neuropsychiatric Genetics;2023-08-16