Cargando…

Rare variant of TBL1XR1 in West syndrome: A case report

BACKGROUND: West syndrome (WS) is an epileptic encephalopathy (EE) that begins in children 4–7 months of age (in rare cases older than 2 years). To date, over 30 genes that have been reported to be related to WS. Reports involving the extremely rare pathogenic gene, transducin beta‐like 1‐X‐ linked...

Descripción completa

Detalles Bibliográficos
Autores principales:	Shen, Yajun, Yuan, Meng, Luo, Huan, Yang, Zuozhen, Liang, Mengmeng, Gan, Jing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266600/ https://www.ncbi.nlm.nih.gov/pubmed/35611576 http://dx.doi.org/10.1002/mgg3.1991

Ejemplares similares

A specific mutation in TBL1XR1 causes Pierpont syndrome
por: Heinen, Charlotte A, et al.
Publicado: (2016)

Correlations between TBL1XR1 and recurrence of colorectal cancer
por: Liu, Hongda, et al.
Publicado: (2017)

Erratum: A specific mutation in TBL1XR1 causes Pierpont syndrome
Publicado: (2016)

TBL1XR1 Is Highly Expressed in Gastric Cancer and Predicts Poor Prognosis
por: Liu, Fang, et al.
Publicado: (2016)

De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity
por: Nishi, Akira, et al.
Publicado: (2017)

A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report
por: Wu, Xiao-Hui, et al.
Publicado: (2023)

Case report: A rare case of TBL1XR1-RARB positive acute promyelocytic leukemia in child and review of the literature
por: Jiang, Mingyan, et al.
Publicado: (2022)

SLY regulates genes involved in chromatin remodeling and interacts with TBL1XR1 during sperm differentiation
por: Moretti, Charlotte, et al.
Publicado: (2017)

TBL1XR1 as a potential therapeutic target that promotes epithelial-mesenchymal transition in lung squamous cell carcinoma
por: Zhao, Yuehua, et al.
Publicado: (2019)

TBL1XR1 mutation predicts poor outcome in primary testicular diffuse large B-cell lymphoma patients
por: Wang, Xinfeng, et al.
Publicado: (2020)

Role of Long Noncoding RNA 799 in the Metastasis of Cervical Cancer through Upregulation of TBL1XR1 Expression
por: Liao, Ling-Min, et al.
Publicado: (2018)

TBL1XR1 Ensures Balanced Neural Development Through NCOR Complex-Mediated Regulation of the MAPK Pathway
por: Mastrototaro, Giuseppina, et al.
Publicado: (2021)

Fusion of the TBL1XR1 and HMGA1 genes in splenic hemangioma with t(3;6)(q26;p21)
por: PANAGOPOULOS, IOANNIS, et al.
Publicado: (2015)

TBL1XR1-RARB融合基因阳性儿童急性早幼粒细胞白血病1例
Publicado: (2022)

An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1(Y446C/Y446C) mutation
por: Hu, Yalan, et al.
Publicado: (2022)

3D CRISPR screen in prostate cancer cells reveals PARP inhibitor sensitization through TBL1XR1-SMC3 interaction
por: Zhang, Huan, et al.
Publicado: (2022)

The role of transducin β-like 1 X-linked receptor 1 (TBL1XR1) in thyroid hormone metabolism and action in mice
por: Hu, Yalan, et al.
Publicado: (2023)

The mutational landscape of ocular marginal zone lymphoma identifies frequent alterations in TNFAIP3 followed by mutations in TBL1XR1 and CREBBP
por: Jung, Hyunchul, et al.
Publicado: (2017)

TBL1XR1 induces cell proliferation and inhibit cell apoptosis by the PI3K/AKT pathway in pancreatic ductal adenocarcinoma
por: Gu, Jian-Feng, et al.
Publicado: (2020)

Pyridoxine‐responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review
por: Chen, Jun, et al.
Publicado: (2022)

Correction: The mutational landscape of ocular marginal zone lymphoma identifies frequent alterations in TNFAIP3 followed by mutations in TBL1XR1 and CREBBP
por: Jung, Hyunchul, et al.
Publicado: (2018)

HSP90AA1, ADRB2, TBL1XR1 and HSPB1 are chronic obstructive pulmonary disease-related genes that facilitate squamous cell lung cancer progression
por: Wang, Lijing, et al.
Publicado: (2020)

LINC01578 affects the radiation resistance of lung cancer cells through regulating microRNA-216b-5p/TBL1XR1 axis
por: Wang, Peirong, et al.
Publicado: (2022)

A de novo variant of BICRA results in Coffin–Siris syndrome 12
por: Tu, Youquan, et al.
Publicado: (2023)

Mutations of Arabidopsis TBL32 and TBL33 Affect Xylan Acetylation and Secondary Wall Deposition
por: Yuan, Youxi, et al.
Publicado: (2016)

Mutations in TBL1X Are Associated With Central Hypothyroidism
por: Heinen, Charlotte A., et al.
Publicado: (2016)

Size and Preparation Considerations in Online TBL
por: Chong, Jia Wen, et al.
Publicado: (2022)

TBL1 is required for the mesenchymal phenotype of transformed breast cancer cells
por: Rivero, Sabrina, et al.
Publicado: (2019)

Dosimetric evaluation of GAFCHROMIC® XR type T and XR type R films
por: Dini, Sharifeh A., et al.
Publicado: (2005)

Ultraviolet exposure of Gafchromic XR‐RV3 and XR‐SP2 films
por: Katsuda, Toshizo, et al.
Publicado: (2015)

Manufacturing and Testing of a TBL PETS Prototype
por: Toral, Fernando, et al.
Publicado: (2010)

Case Report: De novo Variants of KMT2E Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review
por: Li, Yang, et al.
Publicado: (2021)

Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X
por: García, Marta, et al.
Publicado: (2018)

GhTBL34 Is Associated with Verticillium Wilt Resistance in Cotton
por: Zhao, Yunlei, et al.
Publicado: (2021)

Tbl2KnownGene: A command-line program to convert NCBI.tbl to UCSC knownGene.txt data file
por: Bai, Yongsheng
Publicado: (2014)

SUMOylation of TBL1 and TBLR1 promotes androgen-independent prostate cancer cell growth
por: Park, Soo-Yeon, et al.
Publicado: (2016)

Anti-AQP4–IgG-positive Leigh syndrome: A case report and review of the literature
por: Chen, Jun, et al.
Publicado: (2023)

Cisco IOS XR fundamentals
por: Tahir, Mobeen
Publicado: (2009)

Comparing peer education with TBL workshop in (EBM) teaching
por: Ramezani, Ghobad, et al.
Publicado: (2020)

Team-based learning (TBL): a community of practice
por: Burgess, Annette, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_q87hdt1bbq0r41om9q29s26lov