Cargando…

Otological Features of Patients with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14)

Musculocontractural Ehlers–Danlos syndrome (EDS) caused by pathogenic variants in CHST14 (mcEDS-CHST14) is a subtype of EDS characterized by multisystem malformations and progressive fragility-related manifestations. A recent international collaborative study showed that 55% of mcEDS-CHST14 patients...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kawakita, Masayuki, Iwasaki, Satoshi, Moteki, Hideaki, Nishio, Shin-ya, Kosho, Tomoki, Usami, Shin-ichi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379827/ https://www.ncbi.nlm.nih.gov/pubmed/37510254 http://dx.doi.org/10.3390/genes14071350

Ejemplares similares

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
por: Minatogawa, Mari, et al.
Publicado: (2022)

Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)
por: Kobayashi, Tomoko, et al.
Publicado: (2023)

Mouse Models of Musculocontractural Ehlers-Danlos Syndrome
por: Yoshizawa, Takahiro, et al.
Publicado: (2023)

Spinal Deformity in Ehlers–Danlos Syndrome: Focus on Musculocontractural Type
por: Uehara, Masashi, et al.
Publicado: (2023)

Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome
por: Kosho, Tomoki, et al.
Publicado: (2019)

Clinical Presentation and Characteristics of the Upper Extremity in Patients with Musculocontractural Ehlers–Danlos Syndrome
por: Isobe, Fumihiro, et al.
Publicado: (2022)

Collagen Network Formation in In Vitro Models of Musculocontractural Ehlers–Danlos Syndrome
por: Hashimoto, Ayana, et al.
Publicado: (2023)

Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers–Danlos Syndrome Using Induced Pluripotent Stem Cells
por: Yue, Fengming, et al.
Publicado: (2023)

Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency
por: Lautrup, Charlotte K., et al.
Publicado: (2020)

Myopathy Associated With Dermatan Sulfate-Deficient Decorin and Myostatin in Musculocontractural Ehlers-Danlos Syndrome: A Mouse Model Investigation
por: Nitahara-Kasahara, Yuko, et al.
Publicado: (2021)

Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6
por: Yaylacioglu Tuncay, Fulya, et al.
Publicado: (2016)

Anesthetic management of a patient with musculocontractural Ehlers-Danlos syndrome undergoing scoliosis surgery
por: Wakabayashi, Ryo, et al.
Publicado: (2020)

CHST4 might promote the malignancy of cholangiocarcinoma
por: Zhang, Guanran, et al.
Publicado: (2022)

Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities
por: Zhou, Yuan-Yuan, et al.
Publicado: (2022)

In Vivo Regulation of Steroid Hormones by the Chst10 Sulfotransferase in Mouse
por: Suzuki-Anekoji, Misa, et al.
Publicado: (2013)

CHST11 gene expression and DNA methylation in breast cancer
por: HERMAN, DAMIR, et al.
Publicado: (2015)

Case report: Multiple gastrointestinal perforations in a rare musculocontractural Ehlers–Danlos syndrome with multiple organ dysfunction
por: Qian, Huitao, et al.
Publicado: (2022)

Musculocontractural Ehlers–Danlos syndrome and neurocristopathies: dermatan sulfate is required for Xenopus neural crest cells to migrate and adhere to fibronectin
por: Gouignard, Nadège, et al.
Publicado: (2016)

Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6
por: Sultana, Afia, et al.
Publicado: (2009)

Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy
por: Birgani, Shiva Akbari, et al.
Publicado: (2009)

CHST7 Methylation Status Related to the Proliferation and Differentiation of Pituitary Adenomas
por: Dong, Wei, et al.
Publicado: (2022)

Impaired Cognitive Function and Altered Hippocampal Synaptic Plasticity in Mice Lacking Dermatan Sulfotransferase Chst14/D4st1
por: Li, Qifa, et al.
Publicado: (2019)

Histories of Dermatan Sulfate Epimerase and Dermatan 4-O-Sulfotransferase from Discovery of Their Enzymes and Genes to Musculocontractural Ehlers-Danlos Syndrome
por: Mizumoto, Shuji, et al.
Publicado: (2023)

Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers–Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate Epimerase
por: Yoshikawa, Yuji, et al.
Publicado: (2023)

CHST6 mutation screening and endoplasmatic reticulum stress in macular corneal dystrophy
por: Wang, Liyuan, et al.
Publicado: (2017)

Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6
por: Dang, Xiuhong, et al.
Publicado: (2009)

Functional Characterization of the Osteoarthritis Susceptibility Mapping to CHST11—A Bioinformatics and Molecular Study
por: Reynard, Louise N., et al.
Publicado: (2016)

Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations
por: Park, Shin Hae, et al.
Publicado: (2015)

CHST9 rs1436904 genetic variant contributes to prognosis of triple-negative breast cancer
por: Yuan, Jupeng, et al.
Publicado: (2017)

A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy
por: Zhang, Jing, et al.
Publicado: (2019)

CHST15 promotes the proliferation of TE-1 cells via multiple pathways in esophageal cancer
por: Wang, Xin, et al.
Publicado: (2020)

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

ACAN, MDFI, and CHST1 as Candidate Genes in Gastric Cancer: A Comprehensive Insilco Analysis
por: Vafaeie, Farzane, et al.
Publicado: (2022)

Aging-Associated Changes in Cognition, Expression and Epigenetic Regulation of Chondroitin 6-Sulfotransferase Chst3
por: Baidoe-Ansah, David, et al.
Publicado: (2022)

Whole‐exome sequencing facilitates the differential diagnosis of Ehlers–Danlos syndrome (EDS)
por: Yang, Fang, et al.
Publicado: (2022)

Case report: further delineation of AEBP1-related Ehlers–Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature
por: Yamaguchi, Tomomi, et al.
Publicado: (2023)

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants
por: Hiramatsu, Ken, et al.
Publicado: (2021)

Ehlers-Danlos syndrome
por: Taj, Farhana Tahseen, et al.
Publicado: (2014)

A Case of Korean Patient with Macular Corneal Dystrophy Associated with Novel Mutation in the CHST6 Gene
por: Lee, You Kyung, et al.
Publicado: (2013)

CHST15 gene germline mutation is associated with the development of familial myeloproliferative neoplasms and higher transformation risk
por: Chen, Yi, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_6m79odfd83rhmvj0ghovbd8mg8