De novo loss‐of‐function variant in <scp> <i>PTDSS1</i> </scp> is associated with developmental delay-Reference-Cited by-同舟云学术

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De novo loss‐of‐function variant in PTDSS1 is associated with developmental delay

Published:2022-02-27 Issue:6 Volume:188 Page:1739-1745
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Gracie Sara¹,Sengupta Nivedita²,Ferreira Carlos³,Pemberton Joshua²,Anderson Ilse⁴,Wang Xin⁵,Rhodes Lindsay⁵,Brown Kathleen¹,Balla Tamas²,Larson Austin¹^ORCID

Affiliation:

1. Department of Pediatrics, Section of Genetics and Children's Hospital Colorado University of Colorado School of Medicine Aurora Colorado USA

2. Section on Molecular Signal Transduction Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health Bethesda Maryland USA

3. Medical Genomics and Metabolic Genetics Branch National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA

4. University of Tennessee Graduate School of Medicine Knoxville Tennessee USA

5. GeneDx Gaithersburg Maryland USA

Funder

National Institute of Child Health and Human Development

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62695

Reference22 articles.

1. Defining the Importance of Phosphatidylserine Synthase-1 (PSS1)

2. Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014

3. Oxidative stress in autism

4. Alteration in amino-glycerophospholipids levels in the plasma of children with autism: A potential biochemical diagnostic marker

5. PI4P/phosphatidylserine countertransport at ORP5- and ORP8-mediated ER–plasma membrane contacts

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Loss of function of phosphatidylserine synthase causes muscle atrophy in Drosophila;Developmental Biology;2024-07

2. Microglial Dysfunction in Autism Spectrum Disorder;The Neuroscientist;2024-05-07

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