Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis-Reference-Cited by-同舟云学术

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Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis

Published:2017-11-16 Issue:4 Volume:58 Page:145-146
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenit Anom

Author:

Enomoto Yumi¹^ORCID,Tsurusaki Yoshinori¹,Harada Noriaki²,Aida Noriko³,Kurosawa Kenji⁴

Affiliation:

1. Clinical Research Institute; Kanagawa Children's Medical Center; Yokohama Japan

2. Department of Clinical Laboratory; Kanagawa Children's Medical Center; Yokohama Japan

3. Department of Radiology; Kanagawa Children's Medical Center; Yokohama Japan

4. Division of Medical Genetics; Kanagawa Children's Medical Center; Yokohama Japan

Funder

The Yokohama Foundation for Advancement of Medical Science

Naito Foundation

Initiative on Rare and Undiagnosed Diseases (IRUD) from Japan Agency for Medical Research and Development (AMED)

Japan Science and Technology Corporation

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cga.12258/fullpdf

Reference7 articles.

1. A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma;Fujita;Am J Med Genet A,2014

2. AMER1 regulates the distribution of the tumor suppressor APC between microtubules and the plasma membrane;Grohmann;J Cell Sci,2007

3. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis;Jenkins;Nat Genet,2009

4. Wilms tumor suppressor WTX negatively regulates WNT/beta-catenin signaling;Major;Science,2007

5. Structural and functional characterization of the Wnt inhibitor APC membrane recruitment 1 (Amer1);Tanneberger;J Biol Chem,2011

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1. A Case of Osteopathia Striata With Cranial Sclerosis Presenting as Facial Palsy;Korean Journal of Otorhinolaryngology-Head and Neck Surgery;2024-08-25

2. Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1;Journal of Human Genetics;2023-11-10

3. Mosaicism of a Truncating Variant of <b><i>CASK</i></b> Causes Congenital Heart Disease and Neurodevelopmental Disorder;Molecular Syndromology;2022

4. Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis;Medicine;2021-10-08

5. Osteopathia striata in the mandible with cranial sclerosis: a case report and review of the literature;Journal of the Korean Association of Oral and Maxillofacial Surgeons;2021-04-30

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