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NATURE COMMUNICATIONS, ISSN 2041-1723, 06/2019, Volume 10, Issue 1, pp. 1 - 7
Hereditary retinal degenerations (HRDs) are Mendelian diseases characterized by progressive blindness and caused by ultra-rare mutations. In a genomic screen... 
RP1 | ALLELES | PROTEIN | GENE | MULTIDISCIPLINARY SCIENCES | DISEASE | RISK | MUTATIONS | IDENTIFICATION | RETINITIS-PIGMENTOSA | ASSOCIATION | Blindness | Alleles | Retinal degeneration | Insertion | Retina | Heredity | Mutation
Journal Article
08/2019, Volume 8, Issue 9
At the central region of the mammalian major histocompatibility complex (MHC) is a complement gene cluster that codes for constituents of complement C3... 
Index Medicus | NELF-E | SKI2W | antiviral immunity | NSDK | 3′→5′ mRNA turnover | melanoma | DOM3Z | STK19 | promoter-proximal transcriptional pause | 5′→3′ RNA decay | RP1 | miR1236 | interferon β | exosomes | Ski complex | RLR | DXO | SKIV2L | RNA quality control | nuclear kinase | hepatocellular carcinoma | SVA | trichohepatoenteric syndrome
Book Review
MALAYSIAN JOURNAL OF PATHOLOGY, ISSN 0126-8635, 04/2019, Volume 41, Issue 1, pp. 33 - 39
Introduction: Insulin-like growth factor binding protein-related protein 1 (IGFBP-rP1) is an important component of the IGF system that regulates insulin... 
FACTOR-BINDING PROTEIN-7 | T2DM | insulin | ovarian cancer | IHC | Breast cancer | MECHANISMS | PATHOLOGY | PROTEIN-RELATED PROTEIN-1 | IGFBP-rP1 | GENE | GROWTH-FACTORS | RESISTANCE | EXPERIENCE | EPIDEMIC | CARCINOMA | Insulin resistance | Insulin-like growth factors | Diabetes | Ovarian cancer
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 03/2019, Volume 60, Issue 4, pp. 1192 - 1203
PURPOSE. To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies. METHODS. In this multicenter case series, we included 22 patients... 
Phenotypic spectrum | RP1 | Retinitis pigmentosa | Cone-rod dystrophy | Macular dystrophy | PROTEIN | phenotypic spectrum | retinitis pigmentosa | RHODOPSIN | OPHTHALMOLOGY | cone-rod dystrophy | macular dystrophy | ISCEV STANDARD | RETINITIS | IDENTIFICATION
Journal Article
Conference Proceedings of the Society for Experimental Mechanics Series, ISSN 2191-5644, 2019, pp. 297 - 299
Conference Proceeding
Journal of Translational Medicine, ISSN 1479-5876, 05/2018, Volume 16, Issue 1, pp. 145 - 145
Journal Article
EMBO reports, ISSN 1469-221X, 12/2018, Volume 19, Issue 12, pp. e46433 - n/a
Vertebrate oocytes await fertilization arrested at metaphase of the second meiotic division. Fertilization triggers a transient calcium wave, which induces the... 
APC/C | rp1 | Meiosis | Calcineurin | Xenopus laevis | Cdc20 | XErp1 | PROTEIN | FERTILIZATION | PHOSPHORYLATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | ARREST | EMI2 | XENOPUS | INHIBITION | MEIOSIS-II | DEPHOSPHORYLATION | BINDING | Phosphorylation | Calcium | Fertilization | Destruction | Anaphase-promoting complex | Oocytes | Inhibitors | Cyclin B | Calcium-binding protein | Metaphase | Anaphase | Calmodulin | Ca2+/calmodulin-dependent protein kinase II | Index Medicus
Journal Article
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, ISSN 0023-2165, 03/2018, Volume 235, Issue 3, pp. 258 - 263
Within a few years, high-throughput sequencing (next-generation sequencing, NGS) has become a routine method in genetic diagnostics and has largely replaced... 
PROTEIN | next-generation sequencing | allelic disorders | PHENOTYPE | PREVALENCE | RP1 | genetics | MOLECULAR DIAGNOSIS | DYSTROPHY | DISEASE | GENES | OPHTHALMOLOGY | retinal dystrophies | MUTATIONS | RETINITIS-PIGMENTOSA
Journal Article
FRONTIERS IN PLANT SCIENCE, ISSN 1664-462X, 02/2018, Volume 9, pp. 110 - 110
Journal Article
Biomedical Research (India), ISSN 0970-938X, 2018, Volume 29, Issue 1, pp. 82 - 90
Journal Article
by Zafar, S and Ahmad, K and Ali, A and Baig, R
JOURNAL OF THE PAKISTAN MEDICAL ASSOCIATION, ISSN 0030-9982, 11/2017, Volume 67, Issue 11, pp. 1734 - 1739
Retinitis pigmentosais one of the most prevalent causes of inherited retinal dystrophies worldwide. The widespread custom of consanguineous marriages in South... 
MEDICINE, RESEARCH & EXPERIMENTAL | CONSANGUINEOUS PAKISTANI FAMILIES | Retinitis pigmentosa | ANDHRA-PRADESH | Genes | TULP1 | IDENTIFICATION | ROD PHOSPHODIESTERASE | South Asia | DEGENERATION | INDIAN FAMILY | MEDICINE, GENERAL & INTERNAL | RP1 | RETINAL DYSTROPHY | MISSENSE MUTATION | Disease susceptibility | Genetic aspects | Index Medicus
Journal Article
Frontiers in Microbiology, ISSN 1664-302X, 11/2017, Volume 8, pp. 2260 - 2260
Journal Article
Genes, ISSN 2073-4425, 11/2017, Volume 8, Issue 11, p. 304
There are an estimated 5000 people in Ireland who currently have an inherited retinal degeneration (IRD). It is the goal of this study, through genetic... 
Genetics | Retina | Ophthalmology | Retinitis pigmentosa | Genomics | RHODOPSIN GENE | ABCA4 | DOMINANT RETINITIS-PIGMENTOSA | genetics | retina | DEEP-INTRONIC VARIANTS | DISEASE | GENETICS & HEREDITY | retinitis pigmentosa | genomics | ophthalmology | BARDET-BIEDL SYNDROME | RP1 MUTATIONS | ASSOCIATION | DYSTROPHIES | REVEALS | Retinal degeneration | Mutation | Genotyping | Genetic screening
Journal Article
Plasmid, ISSN 0147-619X, 09/2017, Volume 93, pp. 17 - 23
Journal Article
Euromediterranean Biomedical Journal, ISSN 2279-7165, 05/2017, Volume 12, Issue 18, pp. 87 - 90
Rheumatoid Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy affecting peripheral visual field and usually culminates in complete... 
Sicily | RP1 | Retinitis Pigmentosa | polymorphisms
Journal Article