Shomi Shanker BhattacharyaShow email address
NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom | UCL‐Institute of Ophthalmology, London, UK | UCL ...
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Shomi Shanker Bhattacharya:Expert Impact
Concepts for whichShomi Shanker Bhattacharyahas direct influence:Retinitis pigmentosa,Female genes,Human pair,Autosomal dominant,Retinal degeneration,New locus,Dominant retinitis,Genetic linkage.
Shomi Shanker Bhattacharya:KOL impact
Concepts related to the work of other authors for whichfor which Shomi Shanker Bhattacharya has influence:Retinitis pigmentosa,Gene therapy,Mitochondrial dynamics,Leber congenital amaurosis,Photoreceptor cells,Congenital cataract,Optic atrophy.
KOL Resume for Shomi Shanker Bhattacharya
NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom
UCL‐Institute of Ophthalmology, London, UK
Department of Genetics, Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France
UCL Institute of Ophthalmology, London, United Kingdom
Andalusian Molecular Biology and Regenerative Medicine Centre – CABIMER, Seville, Spain
Institute of Ophthalmology, UCL, London, UK, View further author information
Department of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Seville, Spain
Department of Genetics, UCL Institute of Ophthalmology, London, UK
CABIMER (Centro Andaluz de Biología Molecular y Medicina Regenerativa), Avda. Americo Vespucio s/n, Parque Científico y Tecnológico Cartuja, Sevilla, Spain
UCL Institute of Ophthalmology Department of Genetics London UK
Medical Genome Project, Genomics and Bioinformatics Platform of Andalusia (GBPA), Sevilla, Spain Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Sevilla, Spain.
Department of Cell Therapy and Regenerative Medicine, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Seville, Spain
UCL-Institute of Ophthalmology, London, United Kingdom
Institute of Ophthalmology, University College London, London, UK
Cell Therapy and Regenerative Medicine Department, Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER), Seville, Spain
CABIMER (Centro Andaluz de Biología Molecular y Medicina Regenerativa), Avda. Americo Vespucio s/n, Parque Científico y Tecnológico Cartuja Sevilla Spain
Department of Genetics, UCL-Institute of Ophthalmology, Bath Street, London EC1V 9EL, UK,
Vision Institute, INSERM, U968, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, CNRS, UMR_7210, Paris, France
UCL Institute of Ophthalmology, London EC1V 9EL, UK
Institute of Ophthalmology, University College London, London, United Kingdom
University College London, London, UK
Andalusian Center of Molecular Biology and Regenerative Medicine, Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER), Avda. Americo Vespucio s/n, Parque Cientifico y Tecnologico, Isla de la Cartuja 41092, Sevilla, Spain; E-Mails:, (P.D.G.);, (A.K.);, (M.L.B.D.)
Centre de Recherche Institut de la Vision, Université Pierre et Marie Curie-Paris 6, 17 rue Moreau, Paris F-75012, France
Department of Genetics, UCL Institute of Ophthalmology, London, United Kingdom
CABIMER (Centro Andaluz de Biología Molecular y Medicina Regenerativa), Seville, Spain, .
Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER), Isla de Cartuja, Seville, Spain
CNRS, UMR_7210, Paris, F-75012, France
Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK
Department of Cellular Therapy and Regenerative Medicine, Andalusian Centre for Molecular Biology and Regenerative Medicine (CABIMER), Isla Cartuja, Seville, Spain
INSERM, UMRS968, Paris, F‐75012, France
From the Institute of Ophthalmology, University College London, London, United Kingdom;
UCL‐Institute of Ophthalmology, London, United Kingdom
Institute of Ophthalmology, University College London (UCL), 11–43 Bath St, London EC1V 9EL, UK
|cone–rod retinal dystrophy||#1|
|cdna pde beta||#1|
|markers mapping 19q||#1|
|rp linkage analysis||#1|
|mertk cleavage pos||#1|
|fam46a frequency genes||#1|
|mutations spata13 asef2||#1|
|hmg20a hmg20adepleted cells||#1|
|diffuse severe disease||#1|
|12bp aipl1 deletion||#1|
|genetic disorders retina||#1|
|“linked transacting epistasis||#1|
|9 deletion study||#1|
|fam46a rp25 locus||#1|
|microphthalmia phenotype locus||#1|
|foxc1 forkhead gene||#1|
|7 spanish families||#1|
|wildtype prpf31 allele||#1|
|prpf31 chromosome 19||#1|
|vax2 cone dystrophy||#1|
|study corneal phenotype||#1|
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Prominent publications by Shomi Shanker Bhattacharya
Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.
[ PUBLICATION ]
PURPOSE: To screen for possible disease-causing mutations in rhodopsin (RHO), pre-mRNA processing factor 31 (PRPF31), retinitis pigmentosa 1 (RP1), and inosine monophosphate dehydrogenase 1 (IMPDH1) genes in Indian patients with isolated and autosomal dominant forms of retinitis pigmentosa (adRP). Information on such data is not available in India and hence this study was undertaken.
METHODS: Blood samples were obtained from 48 isolated and 53 adRP patients, who were recruited for the ...
|Known for Retinitis Pigmentosa | Mutation Analysis | Impdh1 Genes | Blood Samples | Adrp Patients|
Mediterranean Diet and Incidence of Advanced Age-Related Macular Degeneration The EYE-RISK Consortium
[ PUBLICATION ]
PURPOSE: To investigate associations of adherence to the Mediterranean diet (MeDi) with incidence of advanced age-related macular degeneration (AMD; the symptomatic form of AMD) in 2 European population-based prospective cohorts.
DESIGN: Prospective cohort study of the Rotterdam Study I (RS-I) and the Antioxydants, Lipides Essentiels, Nutrition et Maladies Oculaires (Alienor) Study populations.
PARTICIPANTS: Four thousand four hundred forty-six participants 55 years of age or older from ...
|Known for Mediterranean Diet | Alienor Study | Macular Degeneration | Advanced Age | Incident Amd|
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy and the most frequent cause of inherited blindness in children. LCA is usually inherited in an autosomal recessive fashion, although rare dominant cases have been reported. One form of LCA, LCA4, maps to chromosome 17p13 and is genetically distinct from other forms of LCA. We recently identified the gene associated with LCA4, AIPL1 (aryl-hydrocarbon interacting protein-like 1) and identified three ...
|Known for Aipl1 Mutations | Inherited Retinal | Vertebrate Polymorphism | Proteins Dna | Severe Form|
Retinitis pigmentosa is a genetically heterogeneous form of retinal degeneration that affects approximately 1 in 3500 people worldwide. Recently we identified the gene responsible for the RP1 form of autosomal dominant retinitis pigmentosa (adRP) at 8q11-12 and found two different nonsense mutations in three families previously mapped to 8q. The RP1 gene is an unusually large protein, 2156 amino acids in length, but is comprised of four exons only. To determine the frequency and range of ...
|Known for Rp1 Gene | Retinitis Pigmentosa | Autosomal Dominant | Nonsense Mutations | Disease Adrp|
Clinical Features and Course of Patients with Glaucoma with the E50K Mutation in the Optineurin Gene
[ PUBLICATION ]
PURPOSE: To investigate the clinical features of subjects with glaucoma with the E50K mutation in the optineurin (OPTN) gene and to compare the onset, severity, and clinical course of these patients with a control group of subjects with glaucoma without this mutation.
METHODS: The phenotype of well-characterized subjects from Moorfields Eye Hospital, London, who had been identified as carrying the OPTN E50K mutation was examined. A wide range of structural, psychophysical, and ...
|Known for E50k Mutation | Optineurin Gene | Patients Control | Openangle Humans | Glaucoma E50|
IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome
[ PUBLICATION ]
The Jervell and Lange-Nielsen syndrome (JLNS) comprises profound congenital sensorineural deafness associated with syncopal episodes. These are caused by ventricular arrhythmias secondary to abnormal repolarisation, manifested by a prolonged QT interval on the electrocardiogram. Recently, in families with JLNS, Neyroud et al. reported homozygosity for a single mutation in KVLQT1 , a gene which has previously been shown to be mutated in families with dominantly inherited isolated long QT ...
|Known for Slow Component | Delayed Rectifier | Kvlqt1 Gene | Potassium Channel | Families Jlns|
A Mutation in Guanylate Cyclase Activator 1A (GUCA1A) in an Autosomal Dominant Cone Dystrophy Pedigree Mapping to a New Locus on Chromosome 6p21.1
[ PUBLICATION ]
We report a mutation (Y99C) in guanylate cyclase activator 1A (GUCA1A), the gene for guanylate cyclase activating protein (GCAP1), in a family with autosomal dominant cone dystrophy. Linkage analysis excluded all the known cone and cone-rod dystrophy loci, except the chromosome 6p21.1 region. This is known to contain the RDS gene, which is associated with dominant cone-rod dystrophy. Screening of the RDS gene by heteroduplex analysis and direct sequencing failed to demonstrate sequence ...
|Known for Autosomal Dominant | Guanylate Cyclase | Cone Dystrophy | New Locus | Protein Gcap1|
Three Gene-Targeted Mouse Models of RNA Splicing Factor RP Show Late-Onset RPE and Retinal Degeneration
[ PUBLICATION ]
PURPOSE: Mutations in genes that produce proteins involved in mRNA splicing, including pre-mRNA processing factors 3, 8, and 31 (PRPF3, 8, and 31), RP9, and SNRNP200 are common causes of the late-onset inherited blinding disorder retinitis pigmentosa (RP). It is not known how mutations in these ubiquitously expressed genes lead to retina-specific disease. To investigate the pathogenesis of the RNA splicing factor forms of RP, the authors generated and characterized the retinal phenotypes ...
|Known for Rna Splicing | Mouse Models | Retinal Degeneration | Rp Mutations | Pigmentosa Ribonucleoprotein|
Macular Dystrophy Associated with Mutations at Codon 172 in the Human Retinal Degeneration Slow Gene
[ PUBLICATION ]
BACKGROUND: Recently, mutations in the retinal degeneration slow (rds) gene which codes for peripherin-rds have been implicated as a cause of autosomal dominant retinitis pigmentosa. Because this gene is expressed in both rods and cones, mutations in the rds gene might be expected to cause degeneration affecting either the scotopic or photopic systems. Mutations at codon 172 of the rds gene have been identified in three families with autosomal dominantly inherited, progressive macular ...
|Known for Macular Dystrophy | Rds Gene | Mutations Codon | Fundus Oculi | Contrast Sensitivity|
An Assessment of the Apex Microarray Technology in Genotyping Patients with Leber Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy
[ PUBLICATION ]
PURPOSE: Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are genetically heterogeneous, with 11 genes currently implicated. The LCA chip may be used to interrogate many variants in one hybridization reaction. The purpose of this study was to assess the utility of this technology.
METHODS: One hundred fifty-three patients with LCA and EOSRD were screened using an array (Asper Ophthalmics, Tartu, Estonia) containing 344 published disease-causing variants ...
|Known for Leber Congenital Amaurosis | Lca Mutations | Retinal Dystrophy | Direct Sequencing | Onset Severe|
[ PUBLICATION ]
Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5 million people worldwide. Affected individuals suffer from a progressive degeneration of the photoreceptors, eventually resulting in severe visual impairment. To isolate candidate genes for chorioretinal diseases, we cloned cDNAs specifically or preferentially expressed in the human retina and the retinal pigment epithelium (RPE) through a novel suppression ...
|Known for Drosophila Crumbs | Retinitis Pigmentosa | Human Homologue | Crb Crb1 | Sequence Analysis|