Autism spectrum disorder: signaling pathways and prospective therapeutic targets
J Baranova, G Dragunas, MCS Botellho… - Cellular and molecular …, 2021 - Springer
Abstract The Autism Spectrum Disorder (ASD) consists of a prevalent and heterogeneous
group of neurodevelopmental diseases representing a severe burden to affected individuals …
group of neurodevelopmental diseases representing a severe burden to affected individuals …
RAI1 gene mutations: mechanisms of Smith–Magenis syndrome
M Falco, S Amabile, F Acquaviva - The application of clinical …, 2017 - Taylor & Francis
Smith–Magenis syndrome (SMS; OMIM# 182290) is a complex genetic disorder
characterized by distinctive physical features, developmental delay, cognitive impairment …
characterized by distinctive physical features, developmental delay, cognitive impairment …
What's retinoic acid got to do with it? Retinoic acid regulation of the neural crest in craniofacial and ocular development
AL Williams, BL Bohnsack - Genesis, 2019 - Wiley Online Library
Retinoic acid (RA), the active derivative of vitamin A (retinol), is an essential morphogen
signaling molecule and major regulator of embryonic development. The dysregulation of RA …
signaling molecule and major regulator of embryonic development. The dysregulation of RA …
Insights into retinoic acid deficiency and the induction of craniofacial malformations and microcephaly in fetal alcohol spectrum disorder
B Petrelli, L Bendelac, GG Hicks, A Fainsod - Genesis, 2019 - Wiley Online Library
Summary Fetal Alcohol Spectrum Disorder (FASD) is a set of neurodevelopmental
malformations caused by maternal consumption of alcohol during pregnancy. FASD sentinel …
malformations caused by maternal consumption of alcohol during pregnancy. FASD sentinel …
Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants
SI Berger, C Ciccone, KL Simon, MC Malicdan… - Human genetics, 2017 - Springer
Abstract Smith–Magenis syndrome (SMS), a neurodevelopmental disorder characterized by
dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a …
dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a …
Smith-Magenis syndrome: molecular basis of a genetic-driven melatonin circadian secretion disorder
A Poisson, A Nicolas, I Bousquet, V Raverot… - International Journal of …, 2019 - mdpi.com
Smith-Magenis syndrome (SMS), linked to Retinoic Acid Induced (RAI1) haploinsufficiency,
is a unique model of the inversion of circadian melatonin secretion. In this regard, this model …
is a unique model of the inversion of circadian melatonin secretion. In this regard, this model …
Allele-Specific Regulation of the Candidate Autism Liability Gene RAI1 by the Enhancer Variant rs4925102 (C/G)
X Yuan, L Chen, D Saffen - Genes, 2024 - mdpi.com
Retinoic acid-induced 1 (RAI1) is a dosage-sensitive gene that causes autistic phenotypes
when deleted or duplicated. Observations from clinical cases and animal models also …
when deleted or duplicated. Observations from clinical cases and animal models also …
Prenatal Diagnosis of 17p11. 2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses
M Cai, X Fu, L Xu, N Lin, H Huang - Frontiers in Genetics, 2021 - frontiersin.org
Smith-Magenis syndrome and Potocki-Lupski syndrome are rare autosomal dominant
diseases. Although clinical phenotypes of adults and children have been reported, fetal …
diseases. Although clinical phenotypes of adults and children have been reported, fetal …
A multiple coefficient of determination-based method for parsing SNPs that correlate with mRNA expression
F Song, Y Tao, Y Sun, D Saffen - Scientific reports, 2019 - nature.com
In this study, we present a novel, multiple coefficient of determination (R2M)-based method
for parsing SNPs located within the chromosomal neighborhood of a gene into semi …
for parsing SNPs located within the chromosomal neighborhood of a gene into semi …
Investigations on molecular determinants of durable molecular response in chronic myeloid leukemia patients
Z Iqbal - Advancements in Life Sciences, 2022 - submission.als-journal.com
Background: Chronic myeloid leukemia (CML), a blood cancer, is caused by translocation
between chromosomes 22 and 9 that gives rises to fusion oncogene BCR-ABL. In 20 th …
between chromosomes 22 and 9 that gives rises to fusion oncogene BCR-ABL. In 20 th …