A Novel NYX Mutation Associated with X-Linked Congenital Stationary Night Blindness in a New Zealand Family

Pradhan, Monika; Sharp, Dianne; Mora, Justin; Wittmer, Mariana; Berger, Wolfgang; Vincent, Andrea L.

doi:10.4172/2155-9570.1000147

Cited by 3 publications

(3 citation statements)

References 12 publications

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“…Excision biopsy of the right eye's lesion showed neutrophilic infiltration without vasculitis, the same histopathologic feature of Sweet's syndrome. Conversely, the one in the left eye was responsive to local corticosteroids [56,62,70]. This is the first reported case of bilateral conjunctival nodules in Sweet's syndrome.…”

Section: Introductionmentioning

confidence: 69%

New Understanding of Ophthalmology Disease Process

Shalini¹

2011

J Clin Exp Ophthalmol

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that necessitates the use of thermal energy should be instructed as well to remove any eye makeup, especially mascara before the procedure [15]. A case of surgical flash fire causing thermal burn of eye lashes, eyelid skin and eye brow hair in a patient who had some residual mascara on her lashes while cautery was applied for an eyelid lesion. It is a clinical set up and is done in the absence of oxygen-rich environment [16]. High myopia is known to be associated with cataract, and a relationship between myopia and cataract have been suggested [17,18]in this review. Although the deprivation of form vision due to cataracts in childhood leads to increase in axial length, and myopia had been reported [19,20] but if the cataract may affect the axial length in adults is still unknown. Many factors can affect the axial length and lead to myopia [23]. Lid closure in early ocular and visual development is well recognized to cause ocular developmental abnormalities [19,21]. Central dense corneal opacities in early childhood may lead to visual deprivation and amblyopia and was shown to increase the ocular axial length [22,23]. Subconjunctival gentamicin inadvertently injected into the vitreous cavity can induce cataract and retinal toxicity [24]. Expectedly, the need for cataract surgery has increased dramatically because of an increased proportion of old aged and the tendency & awareness towards surgery earlier in the disease process [25]. Amblyopia means reduced visual acuity, which is not even improved by corrective glasses, in an eye that is otherwise normal. It is responsible for diminished vision in 1% to 2% of the childhood population, and it is most often associated with strabismus or anisometropia [26]. Occlusion therapy remains the mainstay of amblyopia treatment. Opinions, however, vary on the number of hours of daily patching

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Section: Introductionmentioning

confidence: 69%

New Understanding of Ophthalmology Disease Process

Shalini¹

2011

J Clin Exp Ophthalmol

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“…There are type 1A (CSNB1A) and type 1F (CSNB1F) (Tsang and Sharma 2018, review). CSNB1A is caused by the mutations of nyctalopin (Bech‐Hansen et al 2000; Pusch et al 2000; Zhou et al 2015; Leroy et al 2009; Dai et al 2015; Pradhan et al 2011; Wang et al 2012; Xiao et al 2006; Zeitz et al 2005; Sui et al 2008; Ivanova et al 2019) as well as CSNB1F by those of LRIT3 (Zeitz et al 2013, 2015; Dan et al 2017), CACNA1F, TRPM1 (Abdelkader et al 2018), RPM1 (AlTalbishi et al 2019), and GNAT1 (Marmor and Zeitz 2018).…”

Section: Human Diseases Associated With Mutationsmentioning

confidence: 99%

Sequence features, structure, ligand interaction, and diseases in small leucine rich repeat proteoglycans

Matsushima

Miyashita²,

Kretsinger

2021

J. Cell Commun. Signal.

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Small leucine rich repeat proteoglycans (SLRPs) are a group of active components of the extracellular matrix in all tissues. SLRPs bind to collagens and regulate collagen fibril growth and fibril organization. SLRPs also interact with various cytokines and extracellular compounds, which lead to various biological functions such cell adhesion and signaling, proliferation, and differentiation. Mutations in SLRP genes are associated with human diseases. Now crystal structures of five SLRPs are available. We describe some features of amino acid sequence and structures of SLRPs. We also review ligand interactions and then discuss the interaction surfaces. Furthermore, we map mutations associated with human diseases and discuss possible effects on structures by the mutations.

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“…Biological computers used to produce input; output and "software" are all composed of DNA, the material of genes [11], while DNA-manipulating enzymes are used as "hardware. " The newest version's input apparatus is designed to assess concentrations of specific RNA molecules, [12] which may be overproduced or under produced, depending on the type of cancer.…”

Section: Introductionmentioning

confidence: 99%

Biological Computers -Their Mechanism & Applications

Jeevani¹

2011

J Biotechnol Biomaterial

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A Novel NYX Mutation Associated with X-Linked Congenital Stationary Night Blindness in a New Zealand Family

Cited by 3 publications

References 12 publications

New Understanding of Ophthalmology Disease Process

New Understanding of Ophthalmology Disease Process

Sequence features, structure, ligand interaction, and diseases in small leucine rich repeat proteoglycans

Biological Computers -Their Mechanism & Applications

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