HECW2 ‐related disorder in four Japanese patients-Reference-Cited by-同舟云学术

HECW2 ‐related disorder in four Japanese patients

Published:2021-05-28 Issue:10 Volume:185 Page:2895-2902
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Yanagishita Tomoe¹²,Hirade Takuya³^ORCID,Shimojima Yamamoto Keiko²⁴^ORCID,Funatsuka Makoto¹,Miyamoto Yusaku⁵,Maeda Makiko⁶,Yanagi Kumiko⁷,Kaname Tadashi⁷^ORCID,Nagata Satoru¹,Nagata Miho⁸,Ishihara Yasuki⁸,Miyashita Yohei⁸⁹,Asano Yoshihiro⁸,Sakata Yasushi⁸,Kosaki Kenjiro¹⁰,Yamamoto Toshiyuki²^ORCID

Affiliation:

1. Department of Pediatrics Tokyo Women's Medical University Tokyo Japan

2. Institute of Medical Genetics Tokyo Women's Medical University Tokyo Japan

3. Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan

4. Department of Transfusion Medicine and Cell Processing Tokyo Women's Medical University Tokyo Japan

5. Department of Pediatrics St. Marianna University School of Medicine Kawasaki Japan

6. Department of Pediatrics Saga Medical and Welfare Center for the Challenged Saga Japan

7. Department of Genome Medicine National Center for Child Health and Development Tokyo Japan

8. Department of Cardiovascular Medicine Osaka University Graduate School of Medicine Suita Japan

9. Department of Legal Medicine Osaka University Graduate School of Medicine Suita Japan

10. Center for Medical Genetics Keio University School of Medicine Tokyo Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62363

Reference17 articles.

1. Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP)

2. De novo missense variants inHECW2are associated with neurodevelopmental delay and hypotonia

3. The endothelial E3 ligase HECW2 promotes endothelial cell junctions by increasing AMOTL1 protein stability via K63-linked ubiquitination

4. Ubiquitin and Ubiquitin-Like Proteins in the Critical Equilibrium between Synapse Physiology and Intellectual Disability

5. Mutations inHECW2are associated with intellectual disability and epilepsy

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3. First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL;Human Mutation;2022-07

4. A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability;European Journal of Medical Genetics;2022-06

5. Disruption of the Ubiquitin-Proteasome System and Elevated Endoplasmic Reticulum Stress in Epilepsy;Biomedicines;2022-03-11