Rett-Like Phenotype in a Patient with a Novel Pathogenic FBXW7 Variant

Rett-Like Phenotype in a Patient with a Novel Pathogenic FBXW7 Variant

Saved in:

Bibliographic Details
Main Authors:	Jee Min Kim, Byung Chan Lim
Format:	Article
Language:	English
Published:	Korean Child Neurology Society 2025-04-01
Series:	Annals of Child Neurology
Online Access:	http://annchildneurol.org/upload/pdf/acn-2024-00724.pdf
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Loss of CDC4/FBXW7 in Gastric Carinoma
by: A. N. Milne, et al.
Published: (2010-01-01)

Fbxw7 controls angiogenesis by regulating endothelial Notch activity.
by: Nanae Izumi, et al.
Published: (2012-01-01)

Analysis of the Phenotypes in the Rett Networked Database
by: Elisa Frullanti, et al.
Published: (2019-01-01)

FBXW7 in gastrointestinal cancers: from molecular mechanisms to therapeutic prospects
by: Wanqing Wang, et al.
Published: (2024-12-01)

FBXW7 promotes autophagy and inhibits proliferation of oral squamous cell carcinoma
by: Bo Qiu, et al.
Published: (2023-05-01)

Activation of the integrated stress response is a vulnerability for multidrug‐resistant FBXW7‐deficient cells
by: Laura Sanchez‐Burgos, et al.
Published: (2022-07-01)

Síndrome de rett relato de 7 casos
by: Isac Bruck, et al.
Published: (1990-12-01)

A novel cardiomyopathy phenotype linked to a CHD7 missense variant
by: In Young Park, et al.
Published: (2025-06-01)

FBXW7 regulates MYRF levels to control myelin capacity and homeostasis in the adult central nervous system
by: Hannah Y. Collins, et al.
Published: (2025-08-01)

The Diagnostic Value of circFBXW7, circABCB10, and circ0103552 Levels in Breast Cancer
by: Burak İlhan, et al.
Published: (2024-12-01)

Genomic insights into Rett syndrome-like features in Bangladeshi participants
by: Hosneara Akter, et al.
Published: (2025-01-01)

Genotype-phenotype correlation in Brazillian Rett syndrome patients Correlação genótipo-fenótipo em pacientes brasileiras com síndrome de Rett
by: Fernanda T. de Lima, et al.
Published: (2009-09-01)

Pivotal Role of FBXW4 in Glioma Progression and Prognosis
by: Kun Chen, et al.
Published: (2024-01-01)

The CRL7FBXW8 Complex Controls the Mammary Stem Cell Compartment through Regulation of NUMB Levels
by: Simone Sabbioni, et al.
Published: (2025-07-01)

MiR-25 regulates Wwp2 and Fbxw7 and promotes reprogramming of mouse fibroblast cells to iPSCs.
by: Dong Lu, et al.
Published: (2012-01-01)

FBXW7 metabolic reprogramming inhibits the development of colon cancer by down-regulating the activity of arginine/mToR pathways.
by: Qing Li, et al.
Published: (2025-01-01)

Phenotype variation of hypertrophic cardiomyopathy in carriers of the p.Arg870His pathogenic variant in the MYH7 gene
by: A. N. Kucher, et al.
Published: (2022-10-01)

Clinical features and novel pathogenic variants of patients with Behçet’s disease like trisomy 8
by: Xingru Ding, et al.
Published: (2025-07-01)

Síndrome de rett
Published: (2007-06-01)

Rom og rett
by: Beate Ellingsen
Published: (1995-11-01)

Polysomnography in Rett Syndrome
by: J Gordon Millichap
Published: (1994-09-01)

Når retten ikke gir rett, eller ikke gir rett nok
by: May-Len Skilbrei
Published: (2020-03-01)

Ginsenoside Rg1 inhibits angiogenesis in diabetic retinopathy through the miR‐100‐3p/FBXW7/c‐MYC molecular axis
by: Liping Xue, et al.
Published: (2025-05-01)

Targeting microRNA-dependent control of X chromosome inactivation improves the Rett Syndrome phenotype
by: Song Lou, et al.
Published: (2025-07-01)

Resveratrol protects against uremic serum-induced endothelial cell injury by activating the FUS/KLF2/FBXW7 signaling pathway
by: Danjun Wang, et al.
Published: (2025-05-01)

Spectrum of Pathogenic Variants of the ATP7B Gene and Genotype–Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson’s Disease
by: Mikhail Garbuz, et al.
Published: (2024-12-01)

A Case Report on Rett's Syndrome
by: Soumitra Ghosh, et al.
Published: (2024-01-01)

FBXW7 expression affects the response to chemoradiotherapy and overall survival among patients with oral squamous cell carcinoma: A single-center retrospective study
by: Hidetaka Arita, et al.
Published: (2017-10-01)

Developmental Dynamics of Rett Syndrome
by: Danielle Feldman, et al.
Published: (2016-01-01)

Hand Stereotypies in Rett Syndrome
by: Matheus G Ferreira, et al.
Published: (2020-02-01)

Novel Pathogenic Variants in IFT140 and IFT172 Genes in Three Patients with Similar Retinal Dystrophy Phenotypes
by: Jennifer Adeghate, et al.
Published: (2025-03-01)

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes
by: Tobias Brünger, et al.
Published: (2025-07-01)

Proteomic Changes Associated With Endogenous FBXW7 Mutations in Moderately Differentiated Endometrial Cancer Cells Include Increased TROP2 and Galectin‐3 Levels
by: Mary Ellen Urick, et al.
Published: (2025-03-01)

Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene
by: Setila Dalili, et al.
Published: (2024-12-01)

Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding
by: Ibrahim M. Abdelrazek, et al.
Published: (2024-10-01)

Assessing the performance of 28 pathogenicity prediction methods on rare single nucleotide variants in coding regions
by: Jee Yeon Heo, et al.
Published: (2025-07-01)

Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis
by: Yusuke Goto, et al.
Published: (2025-04-01)

The quality of life in girls with Rett syndrome
by: Lucia Parisi, et al.
Published: (2016-05-01)

Sleep Disorders in Children with Rett Syndrome
by: Christopher Harner, et al.
Published: (2025-06-01)

Rett Syndrome: From Bed to Bench
by: Shih-Ming Weng, et al.
Published: (2011-12-01)