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  • 1
    Language: English
    In: American journal of human genetics, 2017-11-02, Vol.101 (5), p.833-843
    Description: Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance. Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G〉A (p.Arg217His) and c.649C〉T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. Two of the girls had pronounced neonatal progeroid features and were initially diagnosed with Wiedemann-Rautenstrauch syndrome. SLC25A24 encodes a mitochondrial inner membrane ATP-Mg/Pi carrier. In fibroblasts from affected individuals, the mutated SLC25A24 showed normal stability. In contrast to control cells, the probands’ cells showed mitochondrial swelling, which was exacerbated upon treatment with hydrogen peroxide (H2O2). The same effect was observed after overexpression of the mutant cDNA. Under normal culture conditions, the mitochondrial membrane potential of the probands’ fibroblasts was intact, whereas ATP content in the mitochondrial matrix was lower than that in control cells. However, upon H2O2 exposure, the membrane potential was significantly elevated in cells harboring the mutated SLC25A24. No reduction of mitochondrial DNA copy number was observed. These findings demonstrate that mitochondrial dysfunction with increased sensitivity to oxidative stress is due to the SLC25A24 mutations. Our results suggest that the SLC25A24 mutations induce a gain of pathological function and link mitochondrial ATP-Mg/Pi transport to the development of skeletal and connective tissue.
    Subject(s): Abnormalities, Multiple - genetics ; Adenosine Triphosphate - genetics ; Adolescent ; Antiporters - genetics ; Calcium-Binding Proteins - genetics ; Child ; Child, Preschool ; Craniofacial Abnormalities - genetics ; Craniosynostoses - genetics ; Craniosynostosis ; Cutis laxa ; Cutis Laxa - genetics ; DNA, Mitochondrial - genetics ; Ductus Arteriosus, Patent - genetics ; Exome - genetics ; Female ; Fetal Growth Retardation - genetics ; Fibroblasts - pathology ; Gorlin-Chaudhry-Moss syndrome ; Humans ; Hydrogen Peroxide - pharmacology ; Hypertrichosis ; Hypertrichosis - genetics ; Infant ; Lipoatrophy ; Membrane Potential, Mitochondrial - drug effects ; Membrane Potential, Mitochondrial - genetics ; Mitochondria - drug effects ; Mitochondria - genetics ; Mitochondrial Proteins - genetics ; Mitochondrial swelling ; Mutation - genetics ; Oxidative stress ; Oxidative Stress - genetics ; Premature aging ; Progeria - genetics ; Report ; SLC25A24
    ISSN: 0002-9297
    E-ISSN: 1537-6605
    Source: PubMed Central
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  • 2
    Language: English
    In: Journal of human genetics, 2019-07-01, Vol.64 (7), p.609-616
    Description: Individuals affected with autosomal recessive cutis laxa type 2B and 3 usually show translucent skin with visible veins and abnormal elastic fibers, intrauterine and/or postnatal growth restriction and a typical triangular facial gestalt. Here we describe three unrelated individuals in whom such a cutis laxa syndrome was suspected, especially after electron microscopy revealed immature and less dense dermal elastic fibers in one of them. However, one of these children also displayed optic atrophy and two hypogammaglobulinemia. All had elevated liver enzymes and acute liver failure during febrile episodes leading to early demise in two of them. The only surviving patient had been treated with immunoglobulins. Through exome sequencing we identified mutations in NBAS, coding for a protein involved in Golgi-to-ER transport. NBAS deficiency causes several rare conditions ranging from isolated recurrent acute liver failure to a multisystem disorder mainly characterized by short stature, optic nerve atrophy and Pelger-Huet anomaly (SOPH). Since we subsequently verified PelgerHuet anomaly in two of the patients the diagnosis SOPH syndrome was unequivocally proven. Our data show that SOPH syndrome can be regarded as a differential diagnosis for the progeroid forms of cutis laxa in early infancy and that possibly treatment of the hypogammaglobulinemia can be of high relevance for the prognosis.
    Subject(s): Agammaglobulinemia - blood ; Agammaglobulinemia - physiopathology ; Atrophy ; Cutis Laxa - diagnosis ; Cutis Laxa - genetics ; Cutis Laxa - pathology ; Diagnosis, Differential ; Differential diagnosis ; Elastic Tissue - ultrastructure ; Electron microscopy ; Enzymes ; Fibers ; Genetics ; Genetics & Heredity ; Golgi apparatus ; Growth Disorders - diagnosis ; Growth Disorders - genetics ; Growth Disorders - pathology ; Humans ; Hypogammaglobulinemia ; Immunoglobulins ; Infant ; Life Sciences & Biomedicine ; Liver ; Liver - enzymology ; Liver - pathology ; Liver diseases ; Male ; Mutation ; Neoplasm Proteins - genetics ; Neuroblastoma ; Optic atrophy ; Optic nerve ; Optic Nerve Diseases - diagnosis ; Optic Nerve Diseases - genetics ; Optic Nerve Diseases - pathology ; Pediatrics ; Pelger-Huet Anomaly - diagnosis ; Pelger-Huet Anomaly - genetics ; Pelger-Huet Anomaly - pathology ; Progeria - diagnosis ; Progeria - genetics ; Protein transport ; Proteins ; Science & Technology ; Skin ; Skin - pathology ; Syndrome ; Whole Exome Sequencing ; Young Adult
    ISSN: 1434-5161
    E-ISSN: 1435-232X
    Source: Web of Science - Science Citation Index Expanded - 2019〈img src="http://exlibris-pub.s3.amazonaws.com/fromwos-v2.jpg" /〉
    Source: Alma/SFX Local Collection
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  • 3
    Language: English
    In: Dalton transactions : an international journal of inorganic chemistry, 2018, Vol.47 (4), p.1071-1081
    Description: The design of new functional metal–semiconductor heteronanostructures with improved photovoltaic efficiencies has drawn significant attention because of their unprecedented properties and potential applications. Herein, we report a phase selective synthesis of ternary CuGaS2 (wurtzite and tetragonal) by simple solution based thermal decomposition of a new binuclear single molecular precursor [Ga(acda)3Cu(PPh3)2]NO3 (acda = 2-aminocyclopentene-1-dithiocarboxylic acid, PPh3 = triphenylphosphine) where the phase selectivity has been achieved easily by changing the combination of surface active agents. Furthermore, we have extended our approach to develop a well-controlled synthetic strategy for the preparation of a Au–CuGaS2 heteronanocomposite with both the phases. A detailed microscopic study reveals that during heterostructure synthesis, an epitaxial junction has been formed at the interface of ternary CuGaS2 and metallic Au. To find out the influence of this epitaxial connectivity on the properties, we have studied the photocurrent and photoresponse behavior of the material and compared them with that of bare CuGaS2. For both the wurtzite and tetragonal phases, the Au–CuGaS2 twin structure exhibits a plasmon enhanced superior charge transport ability and an abruptly high photocurrent density compared to that of pure CuGaS2. Due to efficient charge separation by strong plasmon–exciton coupling at the interface, Au–CuGaS2 can be used as a potential candidate for photoelectrochemical applications.
    Subject(s): Charge transport ; Coupling (molecular) ; Drawing ; Gold ; Photoelectric effect ; Photoelectric emission ; Precursors ; Synthesis ; Ternary systems ; Thermal decomposition ; Wurtzite
    ISSN: 1477-9226
    E-ISSN: 1477-9234
    Source: Get It Now
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  • 4
    Language: English
    In: New journal of chemistry, 2017, Vol.41 (2), p.692-701
    Description: We report controlled synthesis of CuInS2 in wurtzite and zinc blende phases by solution based thermal decomposition of dual precursors [In(acda)3] (acda = 2-aminocyclopentene-1-dithiocarboxylic acid) and [Cu(PPh3)2(acda)] (PPh3 = triphenylphosphine) in the presence of appropriate surface-active agents. Furthermore, the preparation of M–CuInS2 (M = Au and Ag) heteronanostructures on both the phases has been achieved successfully by hot injection of respective gold and silver precursor solutions into the reaction mixture. The characterization of both pure and hybrid nanostructures was carried out by X-ray diffraction (XRD), UV-vis spectroscopy, energy dispersive X-ray (EDX) study and transmission electron microscopy (TEM). A detailed photovoltaic study has been performed with both pure materials and the twin structures and their photocurrent and photoresponse behavior have been compared. The study reveals that upon loading Au and Ag, the material exhibits high photocurrent efficiency compared to pure CuInS2. An appreciable increase in the light to dark current density ratio confirms that these materials can be used in the fabrication of promising photovoltaic devices.
    ISSN: 1144-0546
    E-ISSN: 1369-9261
    Source: Get It Now
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  • 5
    Language: English
    In: New journal of chemistry, 2016, Vol.40 (2), p.1595-1604
    Description: Eu2O2S nanoparticles have been synthesized by solvothermal decomposition of the precursor complex [NHEt3]+[Eu(acda)4]−, wherein acda− is the anion of 2-aminocyclopentene-1-dithiocarboxylic acid. Oleylamine alone or in combination with surface active agents, such as trioctylphosphine or oleic acid, at 280 °C produced nanoparticles of three different morphologies, namely, ultrathin nanoplates, nanospheres and short rods. The optical band energy of the nanoparticles has been found to be 4.57(8) eV. Eu2O2S particles exhibit strong photoluminescence at room temperature with a quantum yield of about 4% upon excitation at 285 nm. All three forms display peroxidase-like activity towards the oxidation of 3,3′,5,5′-tetramethylbenzidine in the presence of H2O2 and follow a Michaelis–Menten enzymatic pathway. The mechanistic investigation reveals that the Eu3+/Eu2+ redox couple plays a crucial role behind this catalytic process. Catalytic efficiency of the nanoparticles decreases in the order plates 〉 spheres 〉 rod-like particles. Based on peroxidase activity, selective detection and estimation of glucose in the presence of related carbohydrates has been carried out.
    ISSN: 1144-0546
    E-ISSN: 1369-9261
    Source: Royal Society of Chemistry:BIBSAM:Gold incl Archive:2015-2017
    Source: Alma/SFX Local Collection
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  • 6
    Language: English
    Description: The design of new functional metal-semiconductor heteronanostructures with improved photovoltaic efficiencies has drawn significant attention because of their unprecedented properties and potential applications. Herein, we report a phase selective synthesis of ternary CuGaS 2 (wurtzite and tetragonal) by simple solution based thermal decomposition of a new binuclear single molecular precursor [Ga(acda) 3 Cu(PPh 3 ) 2 ]NO 3 (acda = 2-aminocyclopentene-1-dithiocarboxylic acid, PPh 3 = triphenylphosphine) where the phase selectivity has been achieved easily by changing the combination of surface active agents. Furthermore, we have extended our approach to develop a well-controlled synthetic strategy for the preparation of a Au-CuGaS 2 heteronanocomposite with both the phases. A detailed microscopic study reveals that during heterostructure synthesis, an epitaxial junction has been formed at the interface of ternary CuGaS 2 and metallic Au. To find out the influence of this epitaxial connectivity on the properties, we have studied the photocurrent and photoresponse behavior of the material and compared them with that of bare CuGaS 2 . For both the wurtzite and tetragonal phases, the Au-CuGaS 2 twin structure exhibits a plasmon enhanced superior charge transport ability and an abruptly high photocurrent density compared to that of pure CuGaS 2 . Due to efficient charge separation by strong plasmon-exciton coupling at the interface, Au-CuGaS 2 can be used as a potential candidate for photoelectrochemical applications. Coupling of metallic Au with CuGaS 2 , synthesized from single molecule precursor [Ga(acda) 3 Cu(PPh 3 ) 2 ]NO 3 , results Au-CuGaS 2 heterostructure which shows remarkably high photocurrent response compared to CuGaS 2 .
    ISSN: 1477-9226
    E-ISSN: 1477-9234
    Source: Get It Now
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  • 7
    Language: English
    In: Catalysis science & technology, 2015, Vol.5 (8), p.4055-4063
    Description: Europium (Eu)-doped Bi2S3 nanoparticles (NPs) with different Eu contents were successfully synthesized by solvothermal decomposition of the precursor complexes Bi(ACDA)3 and [Eu(ACDA)3·H2O] [ACDA = 2-aminocyclopentene-1-dithiocarboxylic acid] in ethylenediamine (EN). The precursors were characterized by usual techniques such as UV-vis and FT-IR spectroscopy, and CHN and TGA analyses. The prepared nanomaterials were characterized by XRD, EDX, SEM and TEM analyses. The XRD results demonstrate that the particles were highly crystallized. The TEM images ascertain the NPs to be of flower-like structure consisting of ultrathin nanoplates with an average diameter of 9–10 nm. Photocatalytic efficiency of the Eu-doped Bi2S3 NPs was evaluated by monitoring the degradation of methylene blue (MB) in aqueous solution under visible light. It was observed that the rate of photocatalytic degradation of MB increases with an increase in the amount of the dopant ion. In addition, the photocatalytic degradation of various toxic organic pollutants such as phenol, p-cresol, 4-chlorophenol, 4-tert-butylphenol, 2,5-dimethylphenol and 2,6-di-tert-butyl-p-cresol was carried out with doped NPs in visible light. Under identical conditions, the degradation rate of 4-chlorophenol is higher than the corresponding phenol, p-cresol and 4-tert-butylphenol. Finally, the mechanism of the degradation pathway for phenol and the substituted phenols is discussed.
    ISSN: 2044-4753
    E-ISSN: 2044-4761
    Source: Royal Society of Chemistry:BIBSAM:Gold incl Archive:2015-2017
    Source: Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
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  • 8
    Language: English
    In: RSC advances, 2015, Vol.5 (108), p.88848-88856
    Description: Herein, we developed a facile method to prepare amorphous spherical MoS2via a simple solvothermal decomposition of a precursor complex MoO2(acda)2 (Hacda = 2-aminocyclopentene-1-dithiocarboxylic acid) in the presence of triethylenetetramine (TETA) as a solvent at 200 °C in an inert atmosphere. The as-obtained product was characterized by X-ray diffraction analysis (XRD), electron diffraction X-ray spectroscopy (EDX), transmission electron microscopy (TEM), and UV-vis spectroscopic techniques. The transmission electron microscopic study ascertains the amorphous particles to be of spherical structure. The amorphous MoS2 has shown photocatalytic activity for the degradation of rose bengal (RB) dye under visible light illumination. The kinetics of the decomposition process was also investigated and found to show the pseudo-first-order reaction kinetics with rate constants of 5.0 × 10−2 min−1. Furthermore, amorphous MoS2 was found to be highly effective in catalyzing the reduction of a series of nitroarenes to the corresponding anilines by an eco-friendly protocol.
    ISSN: 2046-2069
    E-ISSN: 2046-2069
    Source: Royal Society of Chemistry:BIBSAM:Gold incl Archive:2015-2017
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  • 9
    Language: English
    Description: We report controlled synthesis of CuInS 2 in wurtzite and zinc blende phases by solution based thermal decomposition of dual precursors [In(acda) 3 ] (acda = 2-aminocyclopentene-1-dithiocarboxylic acid) and [Cu(PPh 3 ) 2 (acda)] (PPh 3 = triphenylphosphine) in the presence of appropriate surface-active agents. Furthermore, the preparation of M-CuInS 2 (M = Au and Ag) heteronanostructures on both the phases has been achieved successfully by hot injection of respective gold and silver precursor solutions into the reaction mixture. The characterization of both pure and hybrid nanostructures was carried out by X-ray diffraction (XRD), UV-vis spectroscopy, energy dispersive X-ray (EDX) study and transmission electron microscopy (TEM). A detailed photovoltaic study has been performed with both pure materials and the twin structures and their photocurrent and photoresponse behavior have been compared. The study reveals that upon loading Au and Ag, the material exhibits high photocurrent efficiency compared to pure CuInS 2 . An appreciable increase in the light to dark current density ratio confirms that these materials can be used in the fabrication of promising photovoltaic devices. We demonstrate the phase selective synthesis of M-CuInS 2 (M = Au and Ag) heteronanostructures and their enhanced photocurrent activity compared to that of pure CuInS 2 .
    ISSN: 1144-0546
    E-ISSN: 1369-9261
    Source: Get It Now
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  • 10
    Language: English
    In: Genetics in medicine, 2022-06-06
    Description: In this study we aimed to identify the molecular genetic cause of a progressive multisystem disease with prominent lipodystrophy. In total, 5 affected individuals were investigated using exome sequencing. Dermal fibroblasts were characterized using RNA sequencing, proteomics, immunoblotting, immunostaining, and electron microscopy. Subcellular localization and rescue studies were performed. We identified a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life (A1, A2, and A3), 2 are adults with normal intellectual development (A4 and A5). All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13. The nucleotide substitution caused alternative splicing of BUD13 leading to a stable truncated protein whose expression positively correlated with disease expression and life expectancy. In dermal fibroblasts, we found elevated intron retention, a global reduction of spliceosomal proteins, and nuclei with multiple invaginations, which were more pronounced in A1, A2, and A3. Overexpression of both BUD13 isoforms normalized the nuclear morphology. Our results define a hitherto unknown syndrome and show that the alternative splice product converts a loss-of-function into a hypomorphic allele, thereby probably determining the severity of the disease and the survival of affected individuals.
    E-ISSN: 1530-0366
    Source: Alma/SFX Local Collection
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