*  p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy | Disease Models & Mechanisms
2). In each case, the set of genes annotated as DUX4 targets was found to be strongly upregulated. By contrast, the set of ... 2007). Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology 68, 569-577. ... 2010). Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet. 6, e1001181. doi:10.1371/ ... 2011). DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann. Neurol. ...
  http://dmm.biologists.org/content/10/10/1211?rss=1
*  Facioscapulohumeral Muscular Dystrophy: Genetics
... the exact identity of the FSHD gene remains elusive ... Correlation of age of onset in new mutation cases and probands ... Facioscapulohumeral muscular dystrophy (FSHD) isan enigmatic inherited disorder, while the disease locus for this condition was ... 2007) Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology 68: 569-577. ... It encodes the DUX4 gene. The position of the GC and TACAA boxes in the promoter‐like sequence of DUX4 gene is indicated. ...
  http://www.els.net/WileyCDA/ElsArticle/refId-a0005915.html
*  Endothelial Cdkn1a (p21) Overexpression and Accelerated Senescence in a Mouse Model of Fuchs Endothelial Corneal Dystrophy |...
... difference was noted in nine genes. (B) Validation of gene array data was performed by real-time PCR analysis of selected genes ... Zhang C Bell WR Sundin OH Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases ... Yu AL Fuchshofer R Kook D Kampik A Bloemendal H Welge-Lussen U. Subtoxic oxidative stress induces senescence in retinal pigment ... difference was noted in nine genes. (B) Validation of gene array data was performed by real-time PCR analysis of selected genes ...
  http://iovs.arvojournals.org/article.aspx?articleid=2128214
*  Sara J. Bowne HomePage
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to ... North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene. Mol. Vis. 22:1239-1247, 2016 ... Autosomal dominant retinal dystrophies caused by a founder splice site mutation, c.828+3A>T, in PRPH2 and protein haplotypes in ... Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2 on chromosome ...
  https://sph.uth.edu/RETNET/sbowne.htm
*  NBAS Gene - GeneCards | NBAS Protein | NBAS Antibody
Complete information for NBAS gene (Protein Coding), Neuroblastoma Amplified Sequence, including: function, proteins, disorders ... and in some cases retinal dystrophy and optic atrophy. {ECO:0000269 PubMed:26286438}. ... Summaries for NBAS Gene Entrez Gene Summary for NBAS Gene. * This gene encodes a protein with two leucine zipper domains, a ... Domains & Families for NBAS Gene Gene Families for NBAS Gene. Human Protein Atlas (HPA):. *Disease related genes ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBAS
*  FDA Panel Endorses Gene Therapy For A Form Of Childhood Blindness | KSMU Radio
Gene therapy, which has had a roller-coaster history of high hopes and devastating disappointments, took an important step ... The gene therapy endorsed by the committee Thursday was developed for RPE65-mutation associated retinal dystrophy, which is ... That was the case of Allison Corona, who's now 25 and lives in Glen Head, N.Y. She underwent the treatment five years ago as ... STEIN: Yeah, it's called retinal dystrophy. And it's a genetic disorder that causes progressive damage to the retina in the eye ...
  http://ksmu.org/post/fda-panel-endorses-gene-therapy-form-childhood-blindness
*  Case report of optic atrophy in Dentatorubropallidoluysian Atrophy (DRPLA) | BMC Neurology | Full Text
Nuclear receptor TLX prevents retinal dystrophy and recruits the corepressor atrophin1. Genes Dev. 2006;20:1308-20.PubMed ... Case presentation. A 47 year-old African-American man presented to an ophthalmologist for progressive worsening in his vision. ... Case presentation. A 47 year-old man presented complaining of progressive visual loss associated with optic atrophy on ... In this case, we described an African-American man who presented with optic atrophy, ataxia and leukoencephalopathy. ...
  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-015-0520-0
*  The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies-the clinical phenotype of...
Molecular diagnosis confirms the clinical diagnosis and provides the basis for possible future gene therapy. A strict ... in some cases, the utilisation of newer diagnostic modalities such as optical coherence tomography. ... definition of early-onset childhood retinal dystrophies (EOCRDs) does not exist, but inherited retinal dystrophies that are ... The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies-the clinical phenotype of ...
  http://bjo.bmj.com/content/early/2010/06/08/bjo.2009.165654
*  Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation
In some cases, the data were obtained from medical records. Results: The majority of patients showed subnormal visual acuity ... in the PITPNM3 gene. Methods: The study included 35 individuals from two different families of Swedish origin, all heterozygous ... Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation. Reinis, Ainars ... cone-rod dystrophy, CORD5, electroretinography, mutation, optical coherence tomography, PITPNM3 National Category Medical and ...
  http://umu.diva-portal.org/smash/record.jsf?pid=diva2:625804
*  The Spectrum of Subclinical Best Vitelliform Macular Dystrophy in Subjects with Mutations in BEST1 Gene | IOVS | ARVO Journals
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog Retin Eye Res. 2008;27:213-235. [ ... BEST1 (chromosome 11q12-q13) 2 is the only gene virtually involved in all Best VMD cases. It encodes a 68 kDa protein called ... Retinal degenerations and dystrophies. In: Saxena S Meredith TA eds. Optical Coherence Tomography in Retinal Diseases. New ... Renner AB Tillack H Kraus H . Late onset is common in best macular dystrophy associated with VMD2 gene mutations. Ophthalmology ...
  http://iovs.arvojournals.org/article.aspx?articleid=2188294
*  Gene Editing in Adult Hematopoietic Stem Cells | IntechOpen
Gene Editing in Adult Hematopoietic Stem Cells , IntechOpen, Published on: 2016-05-18. Authors: Sergio López-Manzaneda, Sara ... and retinal dystrophies to cancer and other malignancies (36). In the case of blood-related diseases, HSCs have long been the ... In case of performing a gene addition/gene correction strategy, we should also consider the delivery of the DNA molecule ... Gene editing describes the new technology able to accurately modify genes, either by knocking out these genes or by inserting ...
  https://www.intechopen.com/books/modern-tools-for-genetic-engineering/gene-editing-in-adult-hematopoietic-stem-cells/
*  BBSome - Wikipedia
... presenting in most cases by retinal dystrophy, obesity, renal anomalies, post-axial polydactyly, and developmental delay. The ... Mutation in each of this eight BBSome genes (as well as other 14 BBS genes identified to date ) causes a severe multiorganic ...
  https://en.wikipedia.org/wiki/BBSome
*  The Utility of Parallel Genotyping With DNA Arrays in the Molecular Diagnosis of Early-Onset Retinal Dystrophy | IOVS | ARVO...
9 identified genes being responsible for approximately 50% of cases. This complexity hinders efficient molecular diagnosis. One ... Purpose: : Early onset retinal dystrophy (EORD), in which patients present with reduced retinal function before the age of 5 ... The Utility of Parallel Genotyping With DNA Arrays in the Molecular Diagnosis of Early-Onset Retinal Dystrophy ... The Utility of Parallel Genotyping With DNA Arrays in the Molecular Diagnosis of Early-Onset Retinal Dystrophy ...
  http://iovs.arvojournals.org/article.aspx?articleid=2391552
*  PRPH2 gene - Genetics Home Reference
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog Retin Eye Res. 2008 Mar;27(2):213-35. ... Mutations in the PRPH2 gene are responsible for some cases of adult-onset vitelliform macular dystrophy. Several mutations have ... Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat ... PRPH2 mutations also cause a group of retinal disorders called pattern dystrophies of the retinal pigment epithelium. These ...
  https://ghr.nlm.nih.gov/gene/PRPH2
*  Human Genetics Research - Uni Oldenburg
... retinal dystrophies and hearing deficits. Retinal dystrophies and hearing deficits are among the most heterogeneous diseases ... Only about 60% of the cases can be explained by the known disease-associated genes, implicating that additional genetic causes ... retinal diseases include more than 20 different clinical diagnoses and are caused by mutations in over 200 genes. ... To overcome these obstacles, Next Generation Sequencing is the method of choice and enables the analysis of all genes in ...
  https://www.uni-oldenburg.de/en/humanmedicine/human-genetics/research-and-clinical-collaborations/human-genetics-research/
*  Meet Steve Rose - Eye on the Cure
There are gene therapy studies ongoing for other retinal diseases linked to GUCY2D. There has also been some work on RDS gene ... It appears that several cases of CACD are linked to defects in a gene called RDS (or PRPH2). Some are linked to mutations in ... From the research literature, it appears that CACD - also known as central areolar choroidal dystrophy - can look in some ways ... The other mutations may be for other genes (for other proteins). It may be useful for you to speak with a retinal disease ...
  http://www.blindness.org/blog/index.php/steve-bio/?replytocom=286742
*  Taking the long view | Iowa Now
... answers about the retinal condition that has left him legally blind. ... a retinal condition caused by many different gene mutations, but he did not know which gene was affected in his case. ... In 2003, he was told he had cone rod dystrophy, ... Several hundred genes can cause retinal degeneration, which ... Michael Stone notes that successful gene therapies developed for retinal diseases-such trials currently are under way-might ...
  https://now.uiowa.edu/2014/02/taking-long-view
*  Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways...
We propose that BMP4 is a major gene for AM and/or retinal dystrophy and brain anomalies and may be a candidate gene for myopia ... We also identified four cases, some of whom had retinal dystrophy, with 'low-penetrant' mutations in both BMP4 and HH signaling ... gene and identified a frameshift mutation (c.226del2, p.S76fs104X) that segregated with AM, retinal dystrophy, myopia, brain ... Because BMP4 interacts with HH signaling genes in animals, we evaluated gene expression in human embryos and demonstrate ...
  https://www.ndcn.ox.ac.uk/publications/186522
*  Hypophosphatemic bone disease | definition of hypophosphatemic bone disease by Medical dictionary
Syn. Best's macular dystrophy; juvenile vitelliform macular dystrophy; vitelliform macular dystrophy. Mutation in the VMD2 gene ... although in some cases the retinal lesion may be eccentric, with very little effect on vision. The electrooculogram is abnormal ... Syn. Stargardt's macular dystrophy. See macular dysrophy; fundus flavi-maculatus.. Steinert's disease See myotonic dystrophy.. ... The disease can be caused by mutation in the arrestin gene (SAG) or the rhodopsin kinase gene (GRK1).ophthalmic Graves' d. See ...
  https://medical-dictionary.thefreedictionary.com/hypophosphatemic+bone+disease
*  Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients |...
Gene discovery and prevalence in inherited retinal dystrophies. C R Biol. 2014; 337: 160-166. ... Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa. Mol Vis. 2014; 20: 843-851 ... GUCA1B gene) in patients with autosomal dominant retinal dystrophies. Graefes Arch Clin Exp Ophthalmol. 2005; 243: 235-242. ... were selected for application of a NGS-based approach with a custom panel for 73 genes related to retinal dystrophies. ...
  http://iovs.arvojournals.org/article.aspx?articleid=2245717
*  Evolutionarily Conserved ELOVL4 Gene Expression in the Vertebrate Retina | IOVS | ARVO Journals
... to have deleterious effects and may account for the pathogenesis observed in cases of STGD3/adMD and other retinal dystrophies ... 2000) Retinal pigment epithelial-expressed genes as putative candidates for inherited retinal dystrophies mapping to chromosome ... This finding resembles the expression profile of other retinal genes 39 40 and indicates that retina-specific gene function may ... Retinal expression of the ELOVL4 gene has already been demonstrated in human tissue samples. 19 23 To investigate the ...
  http://iovs.arvojournals.org/article.aspx?articleid=2181735
*  Best Vitelliform Macular Dystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Retinal structure in young patients aged 10A years or less with Best vitelliform macular dystrophy. ( 25940553 ) ... the condition is typically caused by mutations in the best1 gene; in a few cases the cause is unknown. treatment is symptomatic ... ClinVar genetic disease variations for Best Vitelliform Macular Dystrophy:. 6 (show all 16) id. Gene. Variation. Type. ... Cellular components related to Best Vitelliform Macular Dystrophy according to GeneCards Suite gene sharing:. id. Name. GO ID. ...
  http://www.malacards.org/card/best_vitelliform_macular_dystrophy
*  Vitelline Macular Dystrophy
... (also known as Best disease) is a progressive, chronic disease of the macula (central retina) at ... There are two main types of this disease: Best disease, which is seen in juvenile cases, and adult‐onset macular dystrophy. ... VMD2 gene, also known as the BEST1 gene, codes for a protein called bestrophin. This protein functions as a chloride ion ... Daniele S, Carbonara A, Daniele C, Restagno G and Orcidi F (1996) Pattern dystrophies of the retinal pigment epithelium. Acta ...
  http://www.els.net/WileyCDA/ElsArticle/refId-a0025491.html
*  Cone dystrophy - Wikipedia
However, the retinal pigment epithelium (RPE) rapidly becomes involved, leading to a retinal dystrophy primarily involving the ... At least one type of autosomal dominant cone-rod dystrophy is caused by mutations in the guanylate cyclase 2D gene (GUCY2D) on ... As expected, visual field testing in cone dystrophy usually reveals a central scotoma. In cases with the typical bull's-eye ... In more severe or longer standing cases, the dystrophy involves a greater proportion of rods with resultant subnormal scotopic ...
  https://en.wikipedia.org/wiki/Cone_dystrophy
*  Vitelliform macular dystrophy - Wikipedia
... fewer than a quarter of cases result from mutations in these two genes. In most cases, the cause of the adult-onset form is ... The retinal pigment epithelium also degenerates. Over time, the abnormal accumulation of this substance can damage the cells ... Mutations in the RDS and VMD2 genes cause vitelliform macular dystrophy. Mutations in the VMD2 gene are responsible for Best ... Changes in either the VMD2 or RDS gene can cause the adult-onset form of vitelliform macular dystrophy; however, ...
  https://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy