Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.

Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.

PURPOSE: Macular corneal dystrophy (MCD) is a rare corneal dystrophy that is characterized by abnormal deposits in the corneal stroma, keratocytes, Descemet's membrane, and endothelium, accompanied by progressive clouding. It has been classified into three immunophenotypes--MCD types I, IA, an...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak:	El-Ashry, M, El-Aziz, A, Wilkins, S, Cheetham, M, Wilkie, SE, Hardcastle, A, Halford, S, Bayoumi, A, Ficker, L, Tuft, S, Bhattacharya, S, Ebenezer, N
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2002

Antzeko izenburuak

Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty
nork: Dewei Li, et al.
Argitaratua: (2021-10-01)

PPARγ regulates expression of carbohydrate sulfotransferase 11 (CHST11/C4ST1), a regulator of LPL cell surface binding.
nork: Ismayil Tasdelen, et al.
Argitaratua: (2013-01-01)

Aging-Associated Changes in Cognition, Expression and Epigenetic Regulation of Chondroitin 6-Sulfotransferase <i>Chst3</i>
nork: David Baidoe-Ansah, et al.
Argitaratua: (2022-06-01)

Corneal macular dystrophy. Case Presentation.
nork: Leopoldo Garduño-Vieyra, et al.
Argitaratua: (2022-12-01)

Outcomes of Penetrating Keratoplasty for Macular Corneal Dystrophy
nork: Farid Karimian, et al.
Argitaratua: (2009-01-01)

Bilateral coexistence of keratoconus and macular corneal dystrophy
nork: Ghazi Al-Hamdan, et al.
Argitaratua: (2009-01-01)

Corneal Higher Order Aberrations in Granular, Lattice and Macular Corneal Dystrophies.
nork: Yukari Yagi-Yaguchi, et al.
Argitaratua: (2016-01-01)

Corneal microstructural changes of precise CHST6 gene mutation: a case series
nork: Durga Murugan, et al.
Argitaratua: (2024-09-01)

Establishment of a non-integrate iPS cell line CSUASOi002-A, from urine-derived cells of a female patient with macular corneal dystrophy carrying compound heterozygous CHST6 mutations
nork: Yutong Jing, et al.
Argitaratua: (2019-12-01)

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene
nork: Cerys J. Evans, et al.
Argitaratua: (2018-09-01)

Macular corneal dystrophy with isolated peripheral Descemet membrane deposits
nork: Wenlin Zhang, et al.
Argitaratua: (2019-12-01)

Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.
nork: Halford, S, et al.
Argitaratua: (2012)

Detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy - case report
nork: Anna Nowińska, et al.
Argitaratua: (2021-07-01)

Genetic insights into carbohydrate sulfotransferase 8 and its impact on the immunotherapy efficacy of cancer
nork: Wen-Cheng Chou, et al.
Argitaratua: (2024-01-01)

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat
nork: Hafford-Tear, N, et al.
Argitaratua: (2019)

CHST4 might promote the malignancy of cholangiocarcinoma.
nork: Guanran Zhang, et al.
Argitaratua: (2022-01-01)

CHST4 might promote the malignancy of cholangiocarcinoma
nork: Guanran Zhang, et al.
Argitaratua: (2022-01-01)

Roles of matrix metalloproteinases in the cornea: A special focus on macular corneal dystrophy
nork: Saniye Gul Kaya, et al.
Argitaratua: (2021-09-01)

Histological findings of corneal tissue after failed phototherapeutic keratectomy in macular corneal dystrophy – a case report
nork: Caroline Julia Gassel, et al.
Argitaratua: (2022-05-01)

Highly expressed carbohydrate sulfotransferase 11 correlates with unfavorable prognosis and immune evasion of hepatocellular carcinoma
nork: Dan‐dan Xiong, et al.
Argitaratua: (2023-02-01)

Autosomal-dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2
nork: Davidson, A, et al.
Argitaratua: (2015)

Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family
nork: Farhad Nejat, et al.
Argitaratua: (2018-03-01)

Phylogeny of algal sequences encoding carbohydrate sulfotransferases, formylglycine-dependent sulfatases, and putative sulfatase modifying factors
nork: Ling, Ho Chai
Argitaratua: (2015)

Medium-Term Clinical Outcomes of Deep Anterior Lamellar Keratoplasty versus Penetrating Keratoplasty for Macular Corneal Dystrophy
nork: AlAraj A, et al.
Argitaratua: (2021-07-01)

High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.
nork: Petra Liskova, et al.
Argitaratua: (2012-01-01)

Bilateral corneal dystrophy
nork: Uhlig, C, et al.
Argitaratua: (2009)

[Bilateral corneal dystrophy].
nork: Uhlig, C, et al.
Argitaratua: (2009)

Characterization of CDH3-related congenital hypotrichosis with juvenile macular dystrophy
nork: Hull, S, et al.
Argitaratua: (2016)

First Identification of a Triple Corneal Dystrophy Association: Keratoconus, Epithelial Basement Membrane Corneal Dystrophy and Fuchs' Endothelial Corneal Dystrophy
nork: Cosimo Mazzotta, et al.
Argitaratua: (2014-09-01)

A macular dystrophy?
nork: Muskan Garg, et al.
Argitaratua: (2024-06-01)

Occult Macular Dystrophy
nork: Işıl Sayman Muslubaş, et al.
Argitaratua: (2016-04-01)

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).
nork: Johnson, S, et al.
Argitaratua: (2003)

Dystrophie Grillagée Type 1 «Lattice Corneal Dystrophy» : En Images A Propos D’un Cas
nork: A. El Ouafi, et al.
Argitaratua: (2017-05-01)

Genomic organization of human CDS2 and evaluation as a candidate gene for corneal hereditary endothelial dystrophy 2 on chromosome 20p13.
nork: Halford, S, et al.
Argitaratua: (2002)

Potential role of extracellular granzyme B in wet age-related macular degeneration and fuchs endothelial corneal dystrophy
nork: Eden Dubchak, et al.
Argitaratua: (2022-09-01)

Tissue-specific expression of carbohydrate sulfotransferases drives keratan sulfate biosynthesis in the notochord and otic vesicles of Xenopus embryos
nork: Yuuri Yasuoka, et al.
Argitaratua: (2023-03-01)

Inhibition of Cell Proliferation and Growth of Pancreatic Cancer by Silencing of Carbohydrate Sulfotransferase 15 In Vitro and in a Xenograft Model.
nork: Kazuki Takakura, et al.
Argitaratua: (2015-01-01)

Surgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case report
nork: Yuta Shioya, et al.
Argitaratua: (2025-02-01)

Long-term Outcomes of Deep Anterior Lamellar Keratoplasty in Macular Corneal Dystrophy—A Retrospective Analysis
nork: Shreesha K. Kodavoor, et al.
Argitaratua: (2024-06-01)

Palmar dermatoglyphics in corneal dystrophy
nork: Padma T, et al.
Argitaratua: (1980-01-01)