The H Syndrome: A Genodermatosis

Bhatti, Shoaib; Jamil, Asma; Siddiqui, Samrah Hasan; Yaqoob, Uzair; Virk, Luqman Naseer; Bhatti, Areesh

doi:10.7759/cureus.2763

Cited by 10 publications

(10 citation statements)

References 4 publications

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“…Currently, intracellularly localized human ENT3 is the only nucleoside transporter identified to be associated with human genetic disease. Rare mutations in the slc29a3 gene have been identified as the cause of recessive autosomal disorders including H-syndrome, 131 pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome, 132 Faisalabad histiocytosis, familial Rosai−Dorfman disease, 133 and dysosteosclerosis. 134 These slc29a3 associated disorders are autoinflammatory in nature, with lysosomal and mitochondrial instability as a likely driver of inflammation.…”

Section: Functional Propertiesmentioning

confidence: 99%

Toward a Molecular Basis of Cellular Nucleoside Transport in Humans

Wright

Lee

2020

Chem. Rev.

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Nucleosides play central roles in all facets of life, from metabolism to cellular signaling. Because of their physiochemical properties, nucleosides are lipid bilayer impermeable and thus rely on dedicated transport systems to cross biological membranes. In humans, two unrelated protein families mediate nucleoside membrane transport: the concentrative and equilibrative nucleoside transporter families. The objective of this review is to provide a broad outlook on the current status of nucleoside transport research. We will discuss the role played by nucleoside transporters in human health and disease, with emphasis placed on recent structural advancements that have revealed detailed molecular principles of these important cellular transport systems and exploitable pharmacological features.

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Section: Functional Propertiesmentioning

confidence: 99%

Toward a Molecular Basis of Cellular Nucleoside Transport in Humans

Wright

Lee

2020

Chem. Rev.

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“…Azo compounds are one of the most important molecules in the fields of dyes, pigments, and advanced materials [1][2][3][4].…”

Section: Society Of Dyers and Colouristsmentioning

confidence: 99%

Experimental and theoretical insight into the electronic properties of 4‐aryl‐5‐arylazo‐3‐cyano‐6‐hydroxy‐2‐pyridone dyes

Vitnik

Božić

et al. 2017

Coloration Technology

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In this paper, spectroscopic and quantum mechanical investigation of nine 4-aryl-5-arylazo-3-cyano-6hydroxy-2-pyridone dyes was performed, and obtained density functional theory (DFT) results were compared with experimental data. The structural and spectroscopic properties of azo-2-pyridone dyes were studied by DFT using B3LYP, CAM-B3LYP, and M06-2X methods with a 6-311++G(d,p) basis set. Comparison of results reveals that the scaled theoretical vibrational frequencies of azo dyes are in good agreement with experimental data. The time-dependent DFT calculated and experimental ultraviolet-visible (UV-vis) absorption spectra are also in good agreement. The effect of electron-donating -OCH 3 and electronwithdrawing -NO 2 groups on the structural parameters, vibrational frequencies, UV-vis absorption, and natural bond orbital (NBO) atomic charges were thoroughly analysed. Vibrational, UV-vis, and NBO analyses confirm that investigated dyes exist in the hydrazo tautomeric form in the solid state and ethanol solution. These analyses signify the occurrence of intramolecular charge transfer in these azo-pyridone dyes.

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“…On in silico CNV (copy number variants) analysis, a homozygous contiguous deletion of size (~1.09 kb), spanning genomic location chr10:g:73110893‐73111985 that encompasses the exonic region 4 of the SLC29A3 gene (ENST00000373189.5), was detected. This established the diagnosis of histiocytosis‐lymphadenopathy plus syndrome, also known as H syndrome …”

Section: Case Reportmentioning

confidence: 97%

Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome

Shankar

Sudha

Priyadarshini

et al. 2019

Pediatric Dermatology

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H syndrome (OMIM 6027820) is a novel form of histiocytosis affecting multiple organs with peculiar cutaneous manifestations. It is an autosomal recessive genodermatosis caused by pathogenic mutations in SLC29A3 that encodes the human equilibrative nucleoside transporter, hENT3. The cutaneous manifestations can mimic other sclerodermoid conditions. We present a 15‐year‐old boy diagnosed with H syndrome with typical clinical features and homozygosity for a novel pathogenic mutation.

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The H Syndrome: A Genodermatosis

Cited by 10 publications

References 4 publications

Toward a Molecular Basis of Cellular Nucleoside Transport in Humans

Toward a Molecular Basis of Cellular Nucleoside Transport in Humans

Experimental and theoretical insight into the electronic properties of 4‐aryl‐5‐arylazo‐3‐cyano‐6‐hydroxy‐2‐pyridone dyes

Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome

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