Cargando…

Case report: Expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease

RhoGTPase regulators play a key role in the development of the nervous system, and their dysfunction can result in brain malformation and associated disorders. Several guanine nucleotide exchange factors (GEF) have been linked to neurodevelopmental disorders. In line with this, ARHGEF17 has been rec...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ravindran, Ethiraj, Ullah, Noor, Mani, Shyamala, Chew, Elaine Guo Yan, Tandiono, Moses, Foo, Jia Nee, Khor, Chiea Chuen, Kaindl, Angela M., Siddiqi, Saima
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9630465/ https://www.ncbi.nlm.nih.gov/pubmed/36341116 http://dx.doi.org/10.3389/fneur.2022.1017654

Ejemplares similares

A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family
por: Kausar, Mehran, et al.
Publicado: (2019)

Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta
por: Kausar, Mehran, et al.
Publicado: (2018)

Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta
por: Kausar, Mehran, et al.
Publicado: (2019)

Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family
por: Ajmal, Muhammad, et al.
Publicado: (2017)

Novel Alternative Splice Variants of Mouse Cdk5rap2
por: Kraemer, Nadine, et al.
Publicado: (2015)

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation
por: Ravindran, Ethiraj, et al.
Publicado: (2017)

Arhgef2 regulates neural differentiation in the cerebral cortex through mRNA m(6)A-methylation of Npdc1 and Cend1
por: Zhou, Pei, et al.
Publicado: (2021)

PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients
por: Picker-Minh, Sylvie, et al.
Publicado: (2022)

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds
por: Kausar, Mehran, et al.
Publicado: (2022)

The Interaction between Serotonin Transporter Allelic Variation and Maternal Care Modulates Instagram Sociability in a Sample of Singaporean Users
por: Bonassi, Andrea, et al.
Publicado: (2022)

Monoallelic CRMP1 gene variants cause neurodevelopmental disorder
por: Ravindran, Ethiraj, et al.
Publicado: (2022)

A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias
por: Siddiqi, Saima, et al.
Publicado: (2014)

The relation between oxytocin receptor gene polymorphisms, adult attachment and Instagram sociability: An exploratory analysis
por: Carollo, Alessandro, et al.
Publicado: (2021)

Modulation of Instagram Number of Followings by Avoidance in Close Relationships in Young Adults under a Gene x Environment Perspective
por: Bonassi, Andrea, et al.
Publicado: (2021)

Examining the common and specific grey matter abnormalities in childhood maltreatment and peer victimisation
por: Lim, Lena, et al.
Publicado: (2022)

Gene–Environment Interactions in Face Categorization: Oxytocin Receptor Genotype x Childcare Experience Shortens Reaction Time
por: Neoh, Michelle Jin Yee, et al.
Publicado: (2022)

Revealing the molecular signatures of host-pathogen interactions
por: Khor, Chiea-Chuen, et al.
Publicado: (2011)

Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly
por: Ravindran, Ethiraj, et al.
Publicado: (2023)

Impairment of social behaviors in Arhgef10 knockout mice
por: Lu, Dai-Hua, et al.
Publicado: (2018)

High Diagnostic Utility Incorporating a Targeted Neurodegeneration Gene Panel With MRI Brain Diagnostic Algorithms in Patients With Young-Onset Cognitive Impairment With Leukodystrophy
por: Chen, Zhiyong, et al.
Publicado: (2021)

ARHGEF17 sets the timer for retention of Mps1 at kinetochores
por: Marquardt, Joseph R., et al.
Publicado: (2016)

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation
por: Alber, Michael, et al.
Publicado: (2017)

ARHGEF3 Associated with Invasion, Metastasis, and Proliferation in Human Osteosarcoma
por: Gong, Jie, et al.
Publicado: (2021)

ARHGEF26 enhances Salmonella invasion and inflammation in cells and mice
por: Bourgeois, Jeffrey S., et al.
Publicado: (2021)

SNP in human ARHGEF3 promoter is associated with DNase hypersensitivity, transcript level and platelet function, and Arhgef3 KO mice have increased mean platelet volume
por: Zou, Siying, et al.
Publicado: (2017)

An Evaluation of DNA Methyltransferase 1 (DNMT1) Single Nucleotide Polymorphisms and Chemotherapy-Associated Cognitive Impairment: A Prospective, Longitudinal Study
por: Chan, Alexandre, et al.
Publicado: (2019)

ARHGEF11, a regulator of junction-associated actomyosin in epithelial cells
por: Itoh, Masahiko
Publicado: (2013)

Arhgef1 Plays a Vital Role in Platelet Function and Thrombogenesis
por: Qasim, Hanan, et al.
Publicado: (2019)

ARHGEF38 as a novel biomarker to predict aggressive prostate cancer
por: Liu, Kun, et al.
Publicado: (2019)

Role of ARHGEF3 as a GEF and mTORC2 Regulator
por: Khaliq, Sana Abdul, et al.
Publicado: (2022)

ARHGEF3 regulates the stability of ACLY to promote the proliferation of lung cancer
por: Zhou, Feifei, et al.
Publicado: (2022)

ARHGEF3 Regulates Skeletal Muscle Regeneration and Strength through Autophagy
por: You, Jae-Sung, et al.
Publicado: (2021)

Phosphorylation of LRRK2 by casein kinase 1α regulates trans-Golgi clustering via differential interaction with ARHGEF7
por: Chia, Ruth, et al.
Publicado: (2014)

ARHGEF7 promotes metastasis of colorectal adenocarcinoma by regulating the motility of cancer cells
por: Lei, Xiong, et al.
Publicado: (2018)

ArhGEF37 assists dynamin 2 during clathrin-mediated endocytosis
por: Viplav, Abhiyan, et al.
Publicado: (2019)

FYN is required for ARHGEF16 to promote proliferation and migration in colon cancer cells
por: Yu, Bei, et al.
Publicado: (2020)

Arhgef5 Binds α-Dystrobrevin 1 and Regulates Neuromuscular Junction Integrity
por: Bernadzki, Krzysztof M., et al.
Publicado: (2020)

Transgenerational Obesity and Alteration of ARHGEF11 in the Rat Liver Induced by Intrauterine Hyperglycemia
por: Zhang, Wanyi, et al.
Publicado: (2019)

Response to entrectinib in a malignant glioneuronal tumor with ARHGEF2-NTRK fusion
por: Kurozumi, Kazuhiko, et al.
Publicado: (2022)

Androgen deprivation restores ARHGEF2 to promote neuroendocrine differentiation of prostate cancer
por: Chen, Xuanrong, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_kn9fghm15c2p2stjsq9g5kr16u