Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Shiwali Goyal"'
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-9 (2024)
Abstract Background To identify the underlying genetic defects in autosomal dominant (ADCC) and autosomal recessive (ARCC) congenital cataract families from North India. Methods Detailed family histories were collected, pedigrees drawn followed by sl
Externí odkaz:
https://doaj.org/article/2bb5930dbce944fc9783068fb6ee4418
Publikováno v:
BMC Ophthalmology, Vol 23, Iss 1, Pp 1-8 (2023)
Abstract Objective This study aimed at identifying the underlying genetic defect in a consanguineous autosomal recessive retinitis pigmentosa (arRP) (RP-1175) family having RP with early macular degeneration, cataract, and myopia. Methods Whole-exome
Externí odkaz:
https://doaj.org/article/d534ba96397d4cf38131d497105cdd99
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
AimsThe study aims to detect the underlying genetic defect in two autosomal dominant congenital cataract (ADCC) families.MethodsA detailed family history was collected, pedigrees were drawn, and slit-lamp examination and lens photography were perform
Externí odkaz:
https://doaj.org/article/1feef237f1b2432db8c6d3d498bcf536
Autor:
Shiwali Goyal, Yosuke Tanigawa, Weihua Zhang, Jin-Fang Chai, Marcio Almeida, Xueling Sim, Megan Lerner, Juliane Chainakul, Jonathan Garcia Ramiu, Chanel Seraphin, Blair Apple, April Vaughan, James Muniu, Juan Peralta, Donna M. Lehman, Sarju Ralhan, Gurpreet S. Wander, Jai Rup Singh, Narinder K. Mehra, Evgeny Sidorov, Marvin D. Peyton, Piers R. Blackett, Joanne E. Curran, E. Shyong Tai, Rob van Dam, Ching-Yu Cheng, Ravindranath Duggirala, John Blangero, John C. Chambers, Charumathi Sabanayagam, Jaspal S. Kooner, Manuel A. Rivas, Christopher E. Aston, Dharambir K. Sanghera
Publikováno v:
Lipids in Health and Disease, Vol 20, Iss 1, Pp 1-14 (2021)
Abstract Background Hypertriglyceridemia has emerged as a critical coronary artery disease (CAD) risk factor. Rare loss-of-function (LoF) variants in apolipoprotein C-III have been reported to reduce triglycerides (TG) and are cardioprotective in Ame
Externí odkaz:
https://doaj.org/article/cb0d2359ee2d4faa9045bf0461cacde7
Autor:
Cynthia A. Bejar, Shiwali Goyal, Shoaib Afzal, Massimo Mangino, Ang Zhou, Peter J. van der Most, Yanchun Bao, Vipin Gupta, Melissa C. Smart, Gagandeep K. Walia, Niek Verweij, Christine Power, Dorairaj Prabhakaran, Jai Rup Singh, Narinder K. Mehra, Gurpreet S. Wander, Sarju Ralhan, Sanjay Kinra, Meena Kumari, Martin H. de Borst, Elina Hyppönen, Tim D. Spector, Børge G. Nordestgaard, Piers R. Blackett, Dharambir K. Sanghera
Publikováno v:
Nutrition Journal, Vol 20, Iss 1, Pp 1-11 (2021)
Abstract Context Multiple observational studies have reported an inverse relationship between 25-hydroxyvitamin D concentrations (25(OH)D) and type 2 diabetes (T2D). However, the results of short- and long-term interventional trials concerning the re
Externí odkaz:
https://doaj.org/article/daf238c4abc64152b37a9c6ec799737d
Background To investigate the underlying genetic defects in two autosomal dominant (ADCC) and an autosomal recessive (ARCC) congenital cataract families from North India. Methods Detailed family history was collected, and pedigrees drawn followed by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e482664cb6287ef99031e796d0e9ff96
https://doi.org/10.21203/rs.3.rs-2065275/v1
https://doi.org/10.21203/rs.3.rs-2065275/v1
Publikováno v:
The Pharma Innovation. 10:679-682
Clusterbean (Cyamopsis tetragonoloba L.) is an important crop of Rajasthan. Insect pests are the major constraints in the production and productivity of clusterbean. On this basis, an experiment was laid out with the view to find out the possibility
Autor:
Shiwali Goyal, Vanita Vanita
Publikováno v:
Molecular genetics and genomics : MGG. 297(5)
Splicing disruption is one type of mutation mechanism for disease-predisposing alleles. To date, less than 30 mutations in TTC8/BBS8 have been reported; however, mutations affecting the splice site are rare. Generally missense mutations are assumed t
Publikováno v:
Gene. 709:25-35
Background Tumor Necrosis Factor-alpha (TNF-α) a pleuripotent pro-inflammatory cytokine, is involved in retinal ganglion cells apoptosis in glaucoma. Thus present study aimed to analyze the association of TNF-α promoter region alterations (c.-238G>
Publikováno v:
Biochemical genetics. 60(6)
Nitric oxide (NO) a potent vasodilator synthesized by endothelial cells has anti-atherosclerotic properties and maintains vascular tone. It has been documented that its reduced bioavailability in vascular endothelium plays an important role in the de