Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies-Reference-Cited by-同舟云学术

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Published:2021-09 Issue:9 Volume:23 Page:1715-1725
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Dworschak Gabriel C.^ORCID,Punetha Jaya,Kalanithy Jeshurun C.,Mingardo Enrico,Erdem Haktan B.,Akdemir Zeynep C.,Karaca Ender,Mitani Tadahiro,Marafi Dana,Fatih Jawid M.,Jhangiani Shalini N.,Hunter Jill V.,Dakal Tikam Chand,Dhabhai Bhanupriya,Dabbagh Omar,Alsaif Hessa S.,Alkuraya Fowzan S.,Maroofian Reza,Houlden Henry,Efthymiou Stephanie,Dominik Natalia,Salpietro Vincenzo,Sultan Tipu,Haider Shahzad,Bibi Farah,Thiele Holger,Hoefele Julia,Riedhammer Korbinian M.,Wagner Matias,Guella Ilaria,Demos Michelle,Keren Boris,Buratti Julien,Charles Perrine,Nava Caroline,Héron Delphine,Heide Solveig,Valkanas Elise,Waddell Leigh B.,Jones Kristi J.,Oates Emily C.,Cooper Sandra T.,MacArthur Daniel,Syrbe Steffen,Ziegler Andreas,Platzer Konrad,Okur Volkan,Chung Wendy K.,O’Shea Sarah A.,Alcalay Roy,Fahn Stanley,Mark Paul R.,Guerrini Renzo,Vetro Annalisa,Hudson Beth,Schnur Rhonda E.,Hoganson George E.,Burton Jennifer E.,McEntagart Meriel,Lindenberg Tobias,Yilmaz Öznur,Odermatt Benjamin,Pehlivan Davut,Posey Jennifer E.,Lupski James R.,Reutter Heiko

Funder

Deutsche Forschungsgemeinschaft

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

https://www.nature.com/articles/s41436-021-01196-9.pdf

Reference40 articles.

1. 4.Wang, N., Dhumale, P., Chiang, J. & Püschel, A. W. The Sema3A receptor Plexin-A1 suppresses supernumerary axons through Rap1 GTPases. Sci Rep. https://doi.org/10.1038/s41598-018-34092-5 (2018).

Cited by 28 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. PLXNA1 confers enzalutamide resistance in prostate cancer via AKT signaling pathway;Neoplasia;2024-11

2. Exploring the promise of regulator of G Protein Signaling 20: insights into potential mechanisms and prospects across solid cancers and hematological malignancies;Cancer Cell International;2024-09-03

3. Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder;Neurology Genetics;2024-06

4. Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders;Frontiers in Molecular Neuroscience;2024-04-08

5. Biallelic variants in Plexin B2 ( PLXNB2 ) cause amelogenesis imperfecta, hearing loss and intellectual disability;Journal of Medical Genetics;2024-03-08