A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2-Reference-Cited by-同舟云学术

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A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2

Published:2020-01-05 Issue:2 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Feng Jincai¹,Lan Xiaoping¹,Shen Jun²,Song Xiaozhen¹^ORCID,Tang Xiaojun¹,Xu Wuhen¹,Ren Xiang¹,Zhang Hong¹,Yu Guangjun¹,Wu Shengnan¹^ORCID

Affiliation:

1. Department of Shanghai Children's Hospital Shanghai Jiaotong University Shanghai China

2. Department of Pathology Brigham and Women's Hospital Harvard Medical School Boston MA USA

Funder

Shanghai Municipal Commission of Health and Family Planning

Joint Research Initiative Shanghai Jiaotong University School of Medicine

The Shanghai Municipal Science and Technology Committee

Shanghai Children's Hospital

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1096

Reference12 articles.

1. New Syndrome of Congenital Circumferential Skin Folds Associated with Multiple Congenital Anomalies

2. Multiple circumferential skin folds and other anomalies

3. Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene

4. New syndrome?: MCA/MR syndrome with multiple circumferential skin creases

5. The microtubule end-binding protein EB2 is a central regulator of microtubule reorganisation in apico-basal epithelial differentiation

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1. The Role of MAPRE2 and Microtubules in Maintaining Normal Ventricular Conduction;Circulation Research;2024-01-05

2. JUND facilitates proliferation and angiogenesis of esophageal squamous cell carcinoma cell via MAPRE2 up-regulation;Tissue and Cell;2023-04

3. Diaphragmatic paralysis in a neonate with circumferential skin creases Kunze type;Molecular Genetics & Genomic Medicine;2022-06-23

4. Identification of 3’-UTR single nucleotide variants and prediction of select protein imbalance in mesial temporal lobe epilepsy patients;PLOS ONE;2021-06-04

5. Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence (NBAS) Gene Mutations;Frontiers in Pediatrics;2021-01-13

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