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regional simplex dystrophy

Shashank Gupta, Souradip Chatterjee, Ashim Mukherjee, Mousumi Mutsuddi
Identification of causal genetic defects for human diseases took a significant leap when the first generation DNA sequencing technologies enabled biologists extract sequence-based genetic information from living beings. However, these sequencing methods had unavoidable constraints of throughput, scalability, rapidity, and resolution. In this direction, next-generation sequencing (NGS) since the time of its advent has revolutionized the process of gene discovery for both monogenic and multifactorial genetic diseases...
November 2017: Experimental Eye Research
Caroline Van Cauwenbergh, Kristof Van Schil, Robrecht Cannoodt, Miriam Bauwens, Thalia Van Laethem, Sarah De Jaegere, Wouter Steyaert, Tom Sante, Björn Menten, Bart P Leroy, Frauke Coppieters, Elfride De Baere
PURPOSE: Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina-expressed noncoding RNAs (ncRNAs). METHODS: arrEYE contains probes for the full genomic region of 106 known iRD genes, including those implicated in retinitis pigmentosa (RP) (the most frequent iRD), cone-rod dystrophies, macular dystrophies, and an additional 60 candidate iRD genes and 196 ncRNAs...
April 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Lilli Winter, Andrey V Kuznetsov, Michael Grimm, Anikó Zeöld, Irmgard Fischer, Gerhard Wiche
Plectin, a versatile 500-kDa cytolinker protein, is essential for muscle fiber integrity and function. The most common disease caused by mutations in the human plectin gene, epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), is characterized by severe skin blistering and progressive muscular dystrophy. Besides displaying pathological desmin-positive protein aggregates and degenerative changes in the myofibrillar apparatus, skeletal muscle specimens of EBS-MD patients and plectin-deficient mice are characterized by massive mitochondrial alterations...
August 15, 2015: Human Molecular Genetics
R Mukherjee, A G Robson, G E Holder, A Stockman, C A Egan, A T Moore, A R Webster
PURPOSE: The purpose of this study is to describe the phenotype of a family with de novo mutation in the GUCY2D. MATERIALS AND METHODS: Five subjects, including two monozygotic twins, underwent ophthalmic clinical examination while some had autofluorescence imaging (AF) and optical coherence tomography (OCT). Symptomatic individuals underwent electrophysiological testing. The youngest subject (21 years) was also evaluated psychophysically. DNA obtained from the individuals was screened for mutations in GUCY2D...
April 2014: Eye
Kari Branham, Mohammad Othman, Matthew Brumm, Athanasios J Karoukis, Pelin Atmaca-Sonmez, Beverly M Yashar, Sharon B Schwartz, Niamh B Stover, Karmen Trzupek, Dianna Wheaton, Barbara Jennings, Maria Laura Ciccarelli, K Thiran Jayasundera, Richard A Lewis, David Birch, Jean Bennett, Paul A Sieving, Sten Andreasson, Jacque L Duncan, Gerald A Fishman, Alessandro Iannaccone, Richard G Weleber, Samuel G Jacobson, John R Heckenlively, Anand Swaroop
PURPOSE: To determine the proportion of male patients presenting simplex retinal degenerative disease (RD: retinitis pigmentosa [RP] or cone/cone-rod dystrophy [COD/CORD]) with mutations in the X-linked retinal degeneration genes RPGR and RP2. METHODS: Simplex males were defined as patients with no known affected family members. Patients were excluded if they had a family history of parental consanguinity. Blood samples from a total of 214 simplex males with a diagnosis of retinal degeneration were collected for genetic analysis...
December 2012: Investigative Ophthalmology & Visual Science
J J A Buijsrogge, M C J M de Jong, G J Kloosterhuis, M H Vermeer, J Koster, A Sonnenberg, M F Jonkman, H H Pas
BACKGROUND: Hemidesmosomal proteins may become targets of autoimmunity in subepidermal blistering diseases. Well-known recognized autoantigens are the intracellular plaque protein BP230, the transmembrane BP180 and its shed ectodomain LAD-1. OBJECTIVES: To establish the prevalence of autoimmunity against plectin, another intracellular plaque protein, and to investigate its antigenic sites. METHODS: Two hundred and eighty-two patients with subepidermal blistering diseases, investigated by routine immunoblot analysis for possible antiplectin antibodies, were included in the study...
October 2009: British Journal of Dermatology
Yoshie Takahashi, Fatima Rouan, Jouni Uitto, Akemi Ishida-Yamamoto, Hajime Iizuka, Katsushi Owaribe, Mizuko Tanigawa, Norito Ishii, Shinichiro Yasumoto, Takashi Hashimoto
BACKGROUND: Epidermolysis bullosa simplex associated with muscular dystrophy is caused by plectin deficiency. OBJECTIVE: To report clinical, immunohistochemical, ultrastructural and molecular features of a 52-year-old Japanese patient affected with this disease, whose muscular disease had been followed-up for 27 years. METHODS: We performed histopathological study, immunofluorescence, electron microscopic study and mutation detection analysis for plectin...
February 2005: Journal of Dermatological Science
Martin J Tymms
INTRODUCTION: Mutations in tissue inhibitor of metalloproteinases-3 (TIMP3) gene result in the rare autosomal dominant disease Sorsby's fundus dystrophy (SFD), which shows striking similarities to age-related macular degeneration (ARMD). METHODS: Current research is reviewed and suggests that these mutations result in the accumulation of TIMP3 in Bruch's membrane resulting in decreased turnover of the extracellular matrix and consequent thickening of Bruch's membrane. DNA analysis of ARMD patients has failed to show any significant mutations in the coding-regions of TIMP3...
July 1999: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
E Negri, R Bettaglio, L Demartini, M Allegri, M Barbieri, D Miotti, L Paulin, M Buonocore, C Bonezzi
BACKGROUND: The Neuropathic Pain Scale is the first specific tool to measure and analyse pain due to a lesion in the nervous system; this kind of pain is usually difficult to describe for the patient because it is characterized by unusual qualities. Aim of this study is to evaluate a possible relation between pain descriptions and underlying pathogenetic mechanisms. METHODS: The Italian version of the Neuropathic Pain Scale has been administered to 145 patients with neuropathic pain due to chronic radiculopathy, diabetic neuropathy, post-traumatic neuropathy, Complex Regional Pain Syndrome or postherpetic neuralgia...
March 2002: Minerva Anestesiologica
Shigeru Sato, Miwa Nakamura, Diane H Cho, Stephen J Tapscott, Hidenori Ozaki, Kiyoshi Kawakami
Myotonic dystrophy 1 (DM1) is the most common inherited neuromuscular disease in adults. The disorder, characterized by myotonia, muscle wasting and weakness, cataract, insulin resistance, and mental impairment, is caused by the expansion of an unstable CTG repeat located in the 3' untranslated region of DMPK. The repeat expansion suppresses the expression of the homeobox gene SIX5. We describe here an experimental system to identify downstream transcriptional targets of mouse Six5 in order to elucidate the role of SIX5 in the pathogenesis of DM1 and development...
May 1, 2002: Human Molecular Genetics
Yaming Wang, Santwana Mukherjee, Cornel Fraefel, Xandra O Breakefield, Paul D Allen
Herpes simplex virus type 1 (HSV-1) amplicon vectors were evaluated for feasibility in gene therapy of Duchenne's muscular dystrophy (DMD). An amplicon vector expressing enhanced green fluorescent protein (eGFP) was examined for transduction efficiency and cytotoxicity in cultured muscle cells, and for transduction efficiency, duration of transgene expression, and immunogenicity in tibialis anterior (TA) muscles of neonatal mice. Transduction efficiencies in murine and human myoblasts were 60-90 and 50-60%, respectively, when myoblasts were transduced at multiplicities of infection (MOIs) of 1-5...
January 20, 2002: Human Gene Therapy
A C van de Vusse, V J Goossens, M A Kemler, W E Weber
OBJECTIVE: This study was designed to investigate whether Complex Regional Pain Syndrome type I (CRPS I) could be linked to any previous infection. PATIENTS: Fifty-two patients with CRPS I of one extremity were screened for the presence of antibodies against mostly neurotropic microorganisms. RESULTS: Of these 52 patients, none had antibodies against Treponema pallidum, Borrelia burgdorferi, or HTLV-1. Only four patients were positive for Campylobacter jejuni...
June 2001: Clinical Journal of Pain
C P Hamel, J M Griffoin, C Bazalgette, L Lasquellec, P A Duval, C Bareil, L Beaufrère, S Bonnet, C Eliaou, F Marlhens, C F Schmitt-Bernard, S Tuffery, M Claustres, B Arnaud
PURPOSE: To evaluate the occurrence and inheritance of various types of pigmentary retinopathy in patients followed at the outpatient clinic in the university hospital, Montpellier, France. To characterize genes and mutations causing these conditions. METHODS: Ophthalmic examination and various visual tests were performed. Mutations were sought from genomic DNA by PCR amplification of exons associated with single-strand conformation analysis and/or direct sequencing...
December 2000: Journal Français D'ophtalmologie
C Jomary, M J Neal, K Iwata, S E Jones
Tissue inhibitor of metalloproteinases-3 (TIMP-3) is one of a family of genes whose products are implicated in the regulation of remodelling of the extracellular matrix. The level of mRNA coding for TIMP-3 is increased in retinas affected by the photoreceptor degenerative disease, simplex retinitis pigmentosa (RP), and mutations in TIMP-3 are associated with an inherited form of macular dystrophy. Here we compare TIMP-3 protein expression in normal retina and in those affected by RP and by age-related macular degeneration...
July 7, 1997: Neuroreport
M M Sohocki, L S Sullivan, W R Harrison, E J Sodergren, F F Elder, G Weinstock, S Tanase, S P Daiger
Two frequent protein variants of glutamate pyruvate transminase (GPT) (E.C. have been used as genetic markers in humans for more than two decades, although chromosomal mapping of the GPT locus in the 1980s produced conflicting results. To resolve this conflict and develop useful DNA markers for this gene, we isolated and characterized cDNA and genomic clones of GPT. We have definitively mapped human GPT to the terminus of 8q using several methods. First, two cosmids shown to contain the GPT sequence were derived from a chromosome 8-specific library...
March 1, 1997: Genomics
F J Smith, R A Eady, I M Leigh, J R McMillan, E L Rugg, D P Kelsell, S P Bryant, N K Spurr, J F Geddes, G Kirtschig, G Milana, A G de Bono, K Owaribe, G Wiche, L Pulkkinen, J Uitto, W H McLean, E B Lane
We report that mutation in the gene for plectin, a cytoskeleton-membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, supportive genetic analysis (localization of the human plectin gene to chromosome 8q24.13-qter and evidence for disease segregation with markers in this region) and finally the identification of a homozygous frameshift mutation detected in plectin cDNA...
August 1996: Nature Genetics
K Yagasaki, S G Jacobson
Three patterns of visual dysfunction were identified in patients with autosomal recessive or simplex cone-rod dystrophy using rod and cone electroretinography and light- and dark-adapted static threshold perimetry. In the first pattern, there was a central rod and cone scotoma with eccentric fixation, mild peripheral retinal dysfunction equally affecting rod and cone systems, and slow progression. The second pattern, which was relatively more severe, also showed a central rod and cone scotoma and eccentric fixation; however, there was more cone than rod dysfunction detected by electroretinography, and function was lost in the peripheral visual field before it was lost in the midperipheral field...
May 1989: Archives of Ophthalmology
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