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The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant.
Ophthalmol Retina
March 2024
Department of Ophthalmology, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy.
Purpose: To describe the retinal phenotype associated with the p.Pro101Thr BEST1 variant.
Design: Retrospective, observational case series.
Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the Gene.
Int J Mol Sci
December 2020
Zentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Europaplatz 3, 53721 Siegburg, Germany.
Autosomal recessive bestrophinopathy (ARB) has been reported as clinically heterogeneous. Eighteen patients (mean age: 22.5 years; 15 unrelated families) underwent ophthalmological examination, fundus photography, fundus autofluorescence, and optical coherence tomography (OCT).
View Article and Find Full Text PDFIdentification of two novel mutations in the cornea-specific TGFBI gene causing unique phenotypes in patients with corneal dystrophies.
Int Ophthalmol
December 2016
Ophthalmic Surgery, Augenärzte am Markt, Halle, Germany.
The purpose of this study was to report on two novel missense mutations of the cornea-specific TGFBI gene in one single patient and in two generations of a family diagnosed with unique corneal dystrophy (CD) phenotypes. Ophthalmologic examination, in several cases ocular coherence tomography of the anterior segment (AS-OCT), was performed in 21 affected patients and in two unaffected members of one affected family. Coding regions of the TGFBI gene were direct sequenced in all 23 individuals.
View Article and Find Full Text PDFA series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.
Neuropathol Appl Neurobiol
April 2011
Department of Neurology, Peking University First Hospital, Beijing Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Aims: Desminopathy is a hereditary cardiac and skeletal myopathy caused by mutations in the desmin gene. This study summarizes the clinical, myopathological and genetic features of a series of Chinese patients with desminopathy.
Methods: Thirty-nine cases from five families with autosomal dominant inheritance and two sporadic cases were investigated.
Gene therapy prevents disruption of dystrophin-related proteins in a model of hereditary dilated cardiomyopathy in hamsters.
Heart Lung Circ
January 2006
Department of Organ Pathophysiology and Internal Medicine, University of Tokyo, Tokyo, Japan.
Background: The TO-2 hamster is an animal model of dilated cardiomyopathy (DCM). It has genetic and clinical features in common with humans who carry the gene deletion or mutation of the delta-sarcoglycan (SG) gene, a component in dystrophin-related proteins (DRP). DRP stabilise the sarcolemma during cardiac contraction.
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