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Lattice dystrophy

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https://www.readbyqxmd.com/read/27829782/genetic-analysis-of-chst6-and-tgfbi-in-turkish-patients-with-corneal-dystrophies-five-novel-variations-in-chst6
#1
Fulya Yaylacioglu Tuncay, Gülsüm Kayman Kurekci, Sezen Guntekin Ergun, Ozge Tugce Pasaoglu, Rustu Fikret Akata, Pervin Rukiye Dincer
PURPOSE: To identify pathogenic variations in carbohydrate sulfotransferase 6 (CHST6) and transforming growth factor, beta-induced (TGFBI) genes in Turkish patients with corneal dystrophy (CD). METHODS: In this study, patients with macular corneal dystrophy (MCD; n = 18), granular corneal dystrophy type 1 (GCD1; n = 12), and lattice corneal dystrophy type 1 (LCD1; n = 4), as well as 50 healthy controls, were subjected to clinical and genetic examinations. The level of antigenic keratan sulfate (AgKS) in the serum samples of patients with MCD was determined with enzyme-linked immunosorbent assay (ELISA) to immunophenotypically subtype the patients as MCD type I and MCD type II...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27737463/genotype-phenotype-correlation-for-tgfbi-corneal-dystrophies-identifies-p-g623d-as-a-novel-cause-of-epithelial-basement-membrane-dystrophy
#2
Cerys J Evans, Alice E Davidson, Nicole Carnt, Karla E Rojas López, Neyme Veli, Caroline M Thaung, Stephen J Tuft, Alison J Hardcastle
Purpose: The majority of anterior corneal dystrophies are caused by dominant mutations in TGFBI (transforming growth factor β-induced) collectively known as the epithelial-stromal TGFBI dystrophies. Most cases of epithelial basement membrane dystrophy (EBMD) are thought to result from a degenerative (nongenetic) process; however, a minority of cases are associated with specific TGFBI mutations. We evaluated the spectrum of TGFBI mutations and associated phenotypes in a United Kingdom cohort with typical epithelial-stromal TGFBI dystrophies and an EBMD cohort...
October 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27638889/independent-variability-of-microtubule-perturbations-associated-with-dystrophinopathy
#3
Joseph J Belanto, John T Olthoff, Tara L Mader, Christopher M Chamberlain, D'anna M Nelson, Preston M McCourt, Dana M Talsness, Gregg G Gunderson, Dawn A Lowe, James M Ervasti
Absence of the protein dystrophin causes Duchenne muscular dystrophy. Dystrophin directly binds to microtubules in vitro, and its absence in vivo correlates with disorganization of the subsarcolemmal microtubule lattice, increased detyrosination of α-tubulin, and altered redox signaling. We previously demonstrated that the dystrophin homologue utrophin neither binds microtubules in vitro nor rescues microtubule lattice organization when overexpressed in muscles of dystrophin-deficient mdx mice. Here, we fine-mapped the dystrophin domain necessary for microtubule binding to spectrin-like repeats 20-22...
September 16, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27600896/-objective-method-to-recognize-warning-signs-in-peripheral-vitreoretinal-dystrophies
#4
M V Pshenichnov, V V Egorov, O V Kolenko, E L Sorokin
AIM: to compare the effectiveness of biomicroscopy (BMS) and optical coherence tomography (OCT) in recognizing prognostically unfavorable signs in peripheral vitreoretinal dystrophy (PVRD) patients. MATERIAL AND METHODS: A total of 131 cases of equatorial PVRD (91 eyes of 56 patients) were assessed. The mean patient's age was 24.7 years. The length of the anterior-posterior axis of the eyeball averaged 25.36±1.12 mm. Prevalence of particular warning signs in PVRD patients at BMS or OCT was comparatively analyzed...
July 2016: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/27536778/corneal-higher-order-aberrations-in-granular-lattice-and-macular-corneal-dystrophies
#5
Yukari Yagi-Yaguchi, Takefumi Yamaguchi, Yumi Okuyama, Yoshiyuki Satake, Kazuo Tsubota, Jun Shimazaki
PURPOSE: To evaluate the corneal higher-order aberrations (HOAs) in granular, lattice and macular corneal dystrophies. METHODS: This retrospective study includes consecutive patients who were diagnosed as granular corneal dystrophy type2 (GCD2; 121 eyes), lattice corneal dystrophies type 1, type 3A (LCDI; 20 eyes, LCDIIIA; 32 eyes) and macular corneal dystrophies (MCD; 13 eyes), and 18 healthy control eyes. Corneal HOAs were calculated using anterior segment optical coherence tomography, and the correlations between HOAs and visual acuity were analyzed...
2016: PloS One
https://www.readbyqxmd.com/read/27402970/variant-lattice-corneal-dystrophy-associated-with-compound-heterozygous-mutations-in-the-tgfbi-gene
#6
Lydia Bai-Tsin Ann, Alessandro Abbouda, Ricardo F Frausto, Samira Huseynli, Kishan Gupta, Jorge L Alió, Anthony J Aldave
BACKGROUND/AIMS: To report the clinical, histopathological and genetic features of a variant of lattice corneal dystrophy (LCD) associated with two pathogenic mutations in the transforming growth factor-B-induced (TGFBI) gene. METHODS: Clinical characterisation was performed by slit lamp examination and in vivo confocal microscopic imaging (IVCM). Histopathological characterisation was performed with light microscopic examination of an excised corneal button and a peripheral blood samples were collected for TGFBI screening...
July 11, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27348782/tgfbi-gene-mutation-analysis-in-chinese-families-with-corneal-dystrophies
#7
Jianqiu Cai, Leru Zhu, Yi Zha, Qianyan Kang
AIMS: To identify transforming growth factor beta-induced (TGFBI) gene mutations in four Chinese families affected by corneal dystrophies. METHODS: In this study, three families (21 patients and 18 normal relatives), respectively, with Reis-Bücklers corneal dystrophy (RBCD), classic lattice corneal dystrophy (LCDI), and variant LCD (LCDI/IIIA) were assessed. All subjects underwent a complete ophthalmological evaluation, including biomicroscopic inspection and dilated fundus examination...
July 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27315290/the-oskar-fehr-lecture
#8
J S Weiss
PURPOSE: The first Oskar Fehr lecture is given in honour of Professor Fehr, a well respected ophthalmologist, who was head physician of the Department of Eye Diseases at the Rudolf Virchow Hospital from 1918. He practiced there until 1938, when he was forbidden to enter the clinic because he was Jewish and subject to the anti-Semitic laws that were instituted after the rise of the Nazi party. Dr. Fehr escaped to Great Britain, where he practiced ophthalmology into his eighties. He was the first to distinguish between granular corneal dystrophy, lattice corneal dystrophy and macular corneal dystrophy...
June 2016: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/27042751/epigallocatechin-gallate-remodels-fibrils-of-lattice-corneal-dystrophy-protein-facilitating-proteolytic-degradation-and-preventing-formation-of-membrane-permeabilizing-species
#9
Marcel Stenvang, Gunna Christiansen, Daniel E Otzen
Lattice corneal dystrophy is associated with painful recurrent corneal erosions and amyloid corneal opacities induced by transforming growth factor β-induced protein (TGFBIp) that impairs vision. The exact mechanism of amyloid fibril formation in corneal dystrophy is unknown but has been associated with destabilizing mutations in the fourth fasciclin 1 (Fas1-4) domain of TGFBIp. The green tea compound epigallocatechin gallate (EGCG) has been found to inhibit fibril formation of various amyloidogenic proteins in vitro...
April 26, 2016: Biochemistry
https://www.readbyqxmd.com/read/27028151/novel-tgfbi-mutation-p-leu558arg-in-a-lattice-corneal-dystrophy-patient
#10
Lubica Dudakova, Michalis Palos, Katerina Jirsova, Pavlina Skalicka, Pavel Dundr, Petra Liskova
No abstract text is available yet for this article.
March 30, 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/26949635/uncovering-the-profile-of-mutations-of-transforming-growth-factor-beta-induced-gene-in-chinese-corneal-dystrophy-patients
#11
Xiao-Dan Hao, Yang-Yang Zhang, Peng Chen, Su-Xia Li, Ye Wang
AIM: To uncover the mutations profile of transforming growth factor beta-induced (TGFBI) gene in Chinese corneal dystrophy patients and further investigate the characteristics of genotype-phenotype correlations. METHODS: Forty-two subjects (6 unrelated families including 15 patients and 8 unaffected members, and 19 sporadic patients) of Chinese origin were subjected to phenotypic and genotypic characterization. The corneal phenotypes of patients were documented by slit lamp photography...
2016: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/26915616/the-first-korean-family-with-hereditary-gelsolin-amyloidosis-caused-by-p-d214y-mutation-in-the-gsn-gene
#12
Kyoung Jin Park, Jong Ho Park, June Hee Park, Eun Bin Cho, Byoung Joon Kim, Jong Won Kim
Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported. A 58-yr-old man presented with involuntary facial twitching, progressive bilateral facial weakness, and tongue atrophy. His mother, maternal uncle, two sisters, and son suffered from the same symptoms. Electrophysiological studies revealed signs of chronic denervation in the cervical and lumbar regions, mild sympathetic autonomic dysfunction, and bilateral facial nerve dysfunction...
May 2016: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/26805765/gender-differences-in-the-clinical-course-of-finnish-gelsolin-amyloidosis
#13
Sari Atula, Tuuli Nikoskinen, Aleksi Saastamoinen, Daniel Strbian, Eeva-Kaisa Schmidt, Sari Kiuru-Enari
PURPOSE: To investigate gender differences in Finnish gelsolin amyloidosis (AGel amyloidosis). PATIENTS AND METHODS: AGel amyloidosis patients, who were members of Finnish Amyloidosis Association (SAMY), filled in a questionnaire compiling known and suspected aspects of their disease. Telephone interviews and hospital medical records, when available, complemented the questionnaire. The data were entered to the database in order to create a national AGel amyloidosis patient registry (FIN-GAR)...
2016: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/26612778/pathogenesis-and-treatments-of-tgfbi-corneal-dystrophies
#14
REVIEW
Kyung Eun Han, Seung-il Choi, Tae-im Kim, Yong-sun Maeng, R Doyle Stulting, Yong Woo Ji, Eung Kweon Kim
Transforming growth factor beta-induced (TGFBI) corneal dystrophies are a group of inherited progressive corneal diseases. Accumulation of transforming growth factor beta-induced protein (TGFBIp) is involved in the pathogenesis of TGFBI corneal dystrophies; however, the exact molecular mechanisms are not fully elucidated. In this review article, we summarize the current knowledge of TGFBI corneal dystrophies including clinical manifestations, epidemiology, most common and recently reported associated mutations for each disease, and treatment modalities...
January 2016: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/26509759/femtosecond-laser-assisted-lamellar-keratectomy-for-corneal-opacities-secondary-to-anterior-corneal-dystrophies-an-interventional-case-series
#15
Bernhard Steger, Vito Romano, Simon Biddolph, Colin E Willoughby, Mark Batterbury, Stephen B Kaye
PURPOSE: To report results of femtosecond laser-assisted lamellar keratectomy (FLK) for corneal opacities secondary to anterior corneal dystrophies. METHODS: Patients with a clinical diagnosis of Reis-Bücklers corneal dystrophy, granular corneal dystrophy, lattice corneal dystrophy, and macular corneal dystrophy were treated. FLK was performed to remove a central corneal free cap of 9.5 mm in diameter at a depth of 110 to 140 μm on which histological analysis was undertaken...
January 2016: Cornea
https://www.readbyqxmd.com/read/26457303/comparative-study-of-anterior-eye-segment-measurements-with-spectral-swept-source-and-time-domain-optical-coherence-tomography-in-eyes-with-corneal-dystrophies
#16
COMPARATIVE STUDY
Anna K Nowinska, Sławomir J Teper, Dominika A Janiszewska, Anita Lyssek-Boron, Dariusz Dobrowolski, Robert Koprowski, Edward Wylegala
PURPOSE: To compare anterior eye segment measurements and morphology obtained with two optical coherence tomography systems (TD OCT, SS OCT) in eyes with corneal dystrophies (CDs). METHODS: Fifty healthy volunteers (50 eyes) and 54 patients (96 eyes) diagnosed with CD (epithelial basement membrane dystrophy, EBMD = 12 eyes; Thiel-Behnke CD = 6 eyes; lattice CD TGFBI type = 15 eyes; granular CD type 1 = 7 eyes, granular CD type 2 = 2 eyes; macular CD = 23 eyes; and Fuchs endothelial CD = 31 eyes) were recruited for the study...
2015: BioMed Research International
https://www.readbyqxmd.com/read/26339870/natural-course-of-finnish-gelsolin-amyloidosis
#17
Tuuli Nikoskinen, Eeva-Kaisa Schmidt, Daniel Strbian, Sari Kiuru-Enari, Sari Atula
BACKGROUND: Finnish type of hereditary gelsolin amyloidosis (FGA) is one of the most common diseases of Finnish disease heritage. Existing FGA knowledge is based only on smaller patient series, so our aim was to elucidate the natural course of the disease in a comprehensive sample of patients and to build up a national FGA patient registry. METHODS: An inquiry about the known and suspected signs of FGA, sent to the members of Finnish Amyloidosis Association, telephone contacts, and hospital records were utilized to create the registry...
2015: Annals of Medicine
https://www.readbyqxmd.com/read/26305369/early-events-in-the-amyloid-formation-of-the-a546t-mutant-of-transforming-growth-factor-%C3%AE-induced-protein-in-corneal-dystrophies-compared-to-the-nonfibrillating-r555w-and-r555q-mutants
#18
Heidi Koldsø, Ole Juul Andersen, Camilla Lund Nikolajsen, Carsten Scavenius, Charlotte S Sørensen, Jarl Underhaug, Kasper Runager, Niels Chr Nielsen, Jan J Enghild, Birgit Schiøtt
The human transforming growth factor β-induced protein (TGFBIp) is involved in several types of corneal dystrophies where protein aggregation and amyloid fibril formation severely impair vision. Most disease-causing mutations are located in the last of four homologous fasciclin-1 (FAS1) domains of the protein, and it has been shown that when isolated, the fourth FAS1 domain (FAS1-4) mimics the behavior of full-length TGFBIp. In this study, we use molecular dynamics simulations and principal component analysis to study the wild-type FAS1-4 domain along with three disease-causing mutations (R555W, R555Q, and A546T) to decipher any internal difference in dynamical properties of the domains that may explain their varied stabilities and aggregation properties...
September 15, 2015: Biochemistry
https://www.readbyqxmd.com/read/26275916/near-complete-1h-13c-15n-resonance-assignments-of-dimethylsulfoxide-denatured-tgfbip-fas1-4-a546t
#19
Natalia V Kulminskaya, Yuichi Yoshimura, Kasper Runager, Charlotte S Sørensen, Morten Bjerring, Maria Andreasen, Daniel E Otzen, Jan J Enghild, Niels Chr Nielsen, Frans A A Mulder
The transforming growth factor beta induced protein (TGFBIp) is a major protein component of the human cornea. Mutations occurring in TGFBIp may cause corneal dystrophies, which ultimately lead to loss of vision. The majority of the disease-causing mutations are located in the C-terminal domain of TGFBIp, referred as the fourth fascilin-1 (FAS1-4) domain. In the present study the FAS1-4 Ala546Thr, a mutation that causes lattice corneal dystrophy, was investigated in dimethylsulfoxide using liquid-state NMR spectroscopy, to enable H/D exchange strategies for identification of the core formed in mature fibrils...
April 2016: Biomolecular NMR Assignments
https://www.readbyqxmd.com/read/26207300/protein-composition-of-tgfbi-r124c-and-tgfbi-r555w-associated-aggregates-suggests-multiple-mechanisms-leading-to-lattice-and-granular-corneal-dystrophy
#20
David G Courtney, Ebbe Toftgaard Poulsen, Susan Kennedy, Johnny E Moore, Sarah D Atkinson, Eleonora Maurizi, M Andrew Nesbit, C B Tara Moore, Jan J Enghild
PURPOSE: Transforming growth factor beta-induced (TGFBI)-related dystrophies constitute the most common heritable forms of corneal dystrophy worldwide. However, other than the underlying genotypes of these conditions, a limited knowledge exists of the exact pathomechanisms of these disorders. This study expands on our previous research investigating dystrophic stromal aggregates, with the aim of better elucidating the pathomechanism of two conditions arising from the most common TGFBI mutations: granular corneal dystrophy type 1 (GCD1; R555W) and lattice corneal dystrophy type 1 (LCD1; R124C)...
July 2015: Investigative Ophthalmology & Visual Science
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