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1.
Faraday Discuss ; 239(0): 202-218, 2022 Oct 28.
Artigo em Inglês | MEDLINE | ID: mdl-36305553

RESUMO

Predictive synthesis-structure-property relationships are at the core of materials design for novel applications. In this regard, correlations between the compositional stoichiometry variations and functional properties are essential for enhancing the performance of devices based on these materials. In this work, we investigate the effect of stoichiometry variations and defects on the structural and optoelectronic properties of monocrystalline zinc phosphide (Zn3P2), a promising compound for photovoltaic applications. We use experimental methods, such as electron and X-ray diffraction and Raman spectroscopy, along with density functional theory calculations, to showcase the favorable creation of P interstitial defects over Zn vacancies in P-rich and Zn-poor compositional regions. Photoluminescence and absorption measurements show that these defects create additional energy levels at about 180 meV above the valence band. Furthermore, they lead to the narrowing of the bandgap, due to the creation of band tails in the region of around 10-20 meV above the valence and below the conduction band. The ability of zinc phosphide to form off-stoichiometric compounds provides a new promising opportunity for tunable functionality that benefits applications. In that regard, this study is crucial for the further development of zinc phosphide and its application in optoelectronic and photovoltaic devices, and should pave the way for defect engineering in this kind of material.

2.
Mol Biol Rep ; 49(1): 171-178, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34686989

RESUMO

BACKGROUND: Vitiligo is a multifactorial depigmentation condition, which is due to skin melanocyte destruction. Increased expression of HLA class II genes in patients with pre-lesions of Vitiligo suggests a crucial role for the participation of immune response in Vitiligo development. Recent studies progressively focused on HLA-DRB1 and DQB1 genes. In this study, we have evaluated the association and role of HLA-DRB4*01:01, -DRB1*07:01, and -DQB1*03:03:2 genes in different clinical subtypes of Vitiligo in the Iranian population. METHODS: First, Genomic DNA from peripheral blood of 125 unrelated Vitiligo patients and 100 unrelated healthy controls were extracted through the salting-out method. Then, HLA class II genotyping was performed using the sequence-specific primer PCR method. Finally, the clinical relevance of the testing for these genotypes was evaluated by applying the PcPPV (prevalence-corrected positive predictive value) formula. RESULTS: Our results indicated the positive associations of DRB4*01:01 and DRB1*07:01 allelic genes with early-onset Vitiligo (p = 0.024 and 0.022, respectively). DRB4*01:01 also showed strong protection against late-onset Vitiligo (p = 0.0016, RR = 0.360). Moreover, our data revealed that the DRB1*07:01 increases the susceptibility to Sporadic Vitiligo (p = 0.030, RR = 1.702). Furthermore, our findings proposed that elevated vulnerability of Vitiligo patients due to DRB4*01:01 and DRB1*07:01 alleles maybe is correlated with the presence of amino acid Arginine at position 71 at pocket 4 on the antigen-binding site of the HLA-DRB1 receptor. CONCLUSION: Our findings on different subtypes of Vitiligo suggest that, despite a more apparent autoimmune involvement, a non-autoimmune nature for the etiology of Vitiligo should also be considered.


Assuntos
Cadeias beta de HLA-DQ/genética , Cadeias HLA-DRB1/genética , Cadeias HLA-DRB4/genética , Vitiligo/genética , Adulto , Estudos de Casos e Controles , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Técnicas de Genotipagem , Humanos , Irã (Geográfico) , Masculino
3.
Int J Neurosci ; 132(7): 706-713, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33045884

RESUMO

INTRODUCTION: Narcolepsy is a chronic neurological and a genetic disorder of autoimmune origin, which is characterized by five main symptoms, including excessive day time sleepiness, sudden loss of muscle tone or cataplexy, sleep paralysis, hypnagogic hallucinations, and disturbed nocturnal sleep. While there are several diagnostic tests for Narcolepsy such as MSLT (mean sleep latency test), polysomnography and low range of hypocretin in cerebrospinal fluid (CSF), sensitivity and specificity in these methodologies are not sufficient enough. Therefore, methods with higher sensitivity for the accurate diagnosis and confirmation of the disease are necessary. METHODS: According to the infrequent prevalence of narcolepsy disease, we scheduled a case-control association study with 20 narcoleptic patients and 150 healthy individuals in a high-resolution HLA typing procedure employing SSP-PCR. RESULTS: Our study demonstrates that the DQB1*06:02 allele provides the highest susceptibility with absolute risk of 0.13%, for Narcolepsy (P = 1x10-14, RR = 60.5, PcPPV = 0.13%), while, HLA-DQB1* 03:05 allele presents protection to Narcolepsy (P = 1x10-4, PcPPV = 3.19x10-4%). Furthermore, for the first time, the AA analysis displayed that AA serine182 and threonine185 located on epitope of DQß1 chain receptor (DQB1Ser182,Thr185) present significant susceptibility for Narcolepsy (Pc= 87.03 × 10-13, PcPPV = 0.024%) while, asparagine182 located on epitope of DQß1 protein receptor (DQB1Asn182) confers the highest protection against development of Narcolepsy (Pc= 2.16 × 10-5, PcPPV = 0.0012%). CONCLUSION: Thus, this can be proposed that the polymorphic differences in the epitope of the HLA receptor could contribute to their differential association with the Narcolepsy in Iranian population.


Assuntos
Aminoácidos , Cadeias beta de HLA-DQ , Narcolepsia , Asparagina , Epitopos , Cadeias beta de HLA-DQ/genética , Humanos , Irã (Geográfico) , Narcolepsia/diagnóstico , Narcolepsia/genética
4.
Nanotechnology ; 32(8): 085704, 2021 Feb 19.
Artigo em Inglês | MEDLINE | ID: mdl-33171447

RESUMO

Earth-abundant and low-cost semiconductors, such as zinc phosphide (Zn3P2), are promising candidates for the next generation photovoltaic applications. However, synthesis on commercially available substrates, which favors the formation of defects, and controllable doping are challenging drawbacks that restrain device performance. Better assessment of relevant properties such as structure, crystal quality and defects will allow faster advancement of Zn3P2, and in this sense, Raman spectroscopy can play an invaluable role. In order to provide a complete Raman spectrum reference of Zn3P2, this work presents a comprehensive analysis of vibrational properties of tetragonally-structured Zn3P2 (space group P42/nmc) nanowires, from both experimental and theoretical perspectives. Low-temperature, high-resolution Raman polarization measurements have been performed on single-crystalline nanowires. Different polarization configurations have allowed selective enhancement of A1g, B1g and Eg Raman modes, while B2g modes were identified from complementary unpolarized Raman measurements. Simultaneous deconvolution of all Raman spectra with Lorentzian curves has allowed identification of 33 peaks which have been assigned to 34 (8 A1g + 9 B1g + 3 B2g + 14 Eg) out of the 39 theoretically predicted eigenmodes. The experimental results are in good agreement with the vibrational frequencies that have been computed by first-principles calculations based on density functional theory. Three separate regions were observed in the phonon dispersion diagram: (i) low-frequency region (<210 cm-1) which is dominated by Zn-related vibrations, (ii) intermediate region (210-225 cm-1) which represents a true phonon gap with no observed vibrations, and (iii) high-frequency region (>225 cm-1) which is attributed to primarily P-related vibrations. The analysis of vibrational patterns has shown that non-degenerate modes involve mostly atomic motion along the long crystal axis (c-axis), while degenerate modes correspond primarily to in-plane vibrations, perpendicular to the long c-axis. These results provide a detailed reference for identification of the tetragonal Zn3P2 phase and can be used for building Raman based methodologies for effective defect screening of bulk materials and films, which might contain structural inhomogeneities.

5.
Phys Chem Chem Phys ; 24(1): 63-72, 2021 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-34851345

RESUMO

Zinc phosphide (Zn3P2) is a II-V compound semiconductor with promising photovoltaic and thermoelectric applications. Its complex structure is susceptible to facile defect formation, which plays a key role in further optimization of the material. Raman spectroscopy can be effectively used for defect characterization. However, the Raman tensor of Zn3P2, which determines the intensity of Raman peaks and anisotropy of inelastic light scattering, is still unknown. In this paper, we use angle-resolved polarization Raman measurements on stoichiometric monocrystalline Zn3P2 thin films to obtain the Raman tensor of Zn3P2. This has allowed determination of the Raman tensor elements characteristic for the A1g, B1g and B2g vibrational modes. These results have been compared with the theoretically obtained Raman tensor elements and simulated Raman spectra from the lattice-dynamics calculations using first-principles force constants. Excellent agreement is found between the experimental and simulated Raman spectra of Zn3P2 for various polarization configurations, providing a platform for future characterization of the defects in this material.

6.
Nanotechnology ; 30(28): 285604, 2019 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-30916044

RESUMO

Liquid droplets sitting on nanowire (NW) tips constitute the starting point of the vapor-liquid-solid method of NW growth. Shape and volume of the droplet have been linked to a variety of growth phenomena ranging from the modification of growth direction, NW orientation, crystal phase, and even polarity. In this work we focus on numerical and theoretical analysis of the stability of liquid droplets on NW tips, explaining the peculiarity of this condition with respect to the wetting of planar surfaces. We highlight the role of droplet pinning at the tip in engineering the contact angle. Experimental results on the characteristics of In droplets of variable volume sitting on the tips or side facets of InAs NWs are also provided. This work contributes to the fundamental understanding of the nature of droplets contact angle at the tip of NWs and to the improvement of the engineering of such nanostructures.

7.
Nano Lett ; 18(4): 2666-2671, 2018 04 11.
Artigo em Inglês | MEDLINE | ID: mdl-29579392

RESUMO

Topological qubits based on Majorana Fermions have the potential to revolutionize the emerging field of quantum computing by making information processing significantly more robust to decoherence. Nanowires are a promising medium for hosting these kinds of qubits, though branched nanowires are needed to perform qubit manipulations. Here we report a gold-free templated growth of III-V nanowires by molecular beam epitaxy using an approach that enables patternable and highly regular branched nanowire arrays on a far greater scale than what has been reported thus far. Our approach relies on the lattice-mismatched growth of InAs on top of defect-free GaAs nanomembranes yielding laterally oriented, low-defect InAs and InGaAs nanowires whose shapes are determined by surface and strain energy minimization. By controlling nanomembrane width and growth time, we demonstrate the formation of compositionally graded nanowires with cross-sections less than 50 nm. Scaling the nanowires below 20 nm leads to the formation of homogeneous InGaAs nanowires, which exhibit phase-coherent, quasi-1D quantum transport as shown by magnetoconductance measurements. These results are an important advance toward scalable topological quantum computing.

8.
Appl Opt ; 57(22): 6572-6581, 2018 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-30117898

RESUMO

In this paper, we examine information theoretical properties of single-mode fibers in the presence of polarization-induced distortion effects. We derive some capacity results and further obtain several nonergodic achievable rates. In this work, however, mostly linear distortions are considered. Since polarization-dependent loss (PDL) is a nonunitary phenomenon, information rate loss caused by PDL is fundamentally inevitable. Interestingly, it is shown that in the presence of channel state information at the transmitter, PDL can increase the capacity in some scenarios. We analytically found also that the highest average capacity improvement from the knowledge of PDL at the transmitter is equal to the mean PDL of the link, and this benefit vanishes at high signal-to-noise ratio. In order to achieve the ergodic capacity, it is established that sending uncorrelated Gaussian signals with equal power via both polarizations is the optimum transmit strategy. As it turns out from the results, perhaps counterintuitively, in the presence of PDL, polarization mode dispersion (PMD) always improves the maximum outage rate; however, the PMD impact on the maximum throughput and the maximum two-layer expected rate is trivial. Finally, an extension to the simple Gaussian noise model of fiber nonlinearity is explored. All theoretical results are illustrated by numerical simulations.

9.
Indian J Med Res ; 145(6): 746-752, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29067976

RESUMO

BACKGROUND & OBJECTIVES: Multiple sclerosis (MS) is common in some ethnic groups. Interleukin-10 (IL-10) is a potent anti-inflammatory and immunosuppressive cytokine that may be an important regulator in MS disease pathogenesis. IL-10 promoter includes several single nucleotide polymorphisms and the level of IL-10 expression is related to these polymorphisms. Furthermore, loci within the histocompatibility regions are responsible for susceptibility to MS. The aim of this study was to investigate the association of IL-10 gene promoter polymorphisms and HLA-DRB1*15 allele frequencies with MS susceptibility in an Iranian population. METHODS: In this study 336 MS patients and 454 healthy controls were included. Genomic DNA was purified from peripheral blood samples by a standard protocol. Genotyping was performed by the sequence-specific primer polymerase chain reaction method. RESULTS: IL-10 -1082 G/G and IL-10 -819 C/C genotypes were more frequent in MS patients than healthy individuals. DRB1*15 allele showed a higher frequency among MS patients compared to controls. INTERPRETATION & CONCLUSIONS: The IL-10 and HLA-DRB1*15 polymorphisms were associated with the susceptibility to MS in Iranian patients. Our results suggest that gene-gene interaction of IL-10 polymorphisms and HLA-DRB1*15 alleles may be important factors in the development of MS.


Assuntos
Predisposição Genética para Doença , Cadeias HLA-DRB1/genética , Interleucina-10/genética , Esclerose Múltipla/genética , Adulto , Feminino , Frequência do Gene , Estudos de Associação Genética , Genótipo , Humanos , Irã (Geográfico)/epidemiologia , Masculino , Esclerose Múltipla/epidemiologia , Esclerose Múltipla/patologia , Polimorfismo de Nucleotídeo Único/genética , Regiões Promotoras Genéticas
10.
Cytogenet Genome Res ; 148(1): 1-5, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27055209

RESUMO

The 22q11.2 locus is known to harbor a high risk for structural variation caused by non-allelic homologous recombination, resulting in deletions and duplications. Here, we describe the first family with one sibling carrying the 22q11 deletion and the other carrying the reciprocal duplication. FISH and SNP array analysis of the parents show a maternal origin for both deletion and duplication, without indications of balanced deletions/duplications or mosaicism. We hypothesize that germline mosaicism in the mother underlies the deletion and duplication, which would implicate a high recurrence risk for her offspring.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Duplicação Gênica/genética , Cariótipo , Pais , Irmãos , Adolescente , Adulto , Criança , Feminino , Recombinação Homóloga/genética , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Masculino , Herança Materna/genética , Mosaicismo , Polimorfismo de Nucleotídeo Único/genética
11.
Opt Express ; 24(20): 23531-23542, 2016 Oct 03.
Artigo em Inglês | MEDLINE | ID: mdl-27828415

RESUMO

An efficient trellis-based phase noise mitigation algorithm is proposed to highly improve the performance of coherent transmission systems, especially in high order modulation formats. The proposed method targets the coherent optical systems where the performance is limited by various sources of phase noise including laser line-width, fiber non-linearity, and phase noise induced by phase-locked loop. Considering hardware limitations of ultra-high data rate processing in optical systems, a hardware-efficient parallelized and pipelined architecture is utilized. Experimental results in 200 Gb/s DP-16QAM co-propagated with 10-G channels demonstrate significant performance improvement over other existing methods.

12.
Neurol Sci ; 36(11): 2011-7, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26081009

RESUMO

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are the most frequent muscular dystrophies. Present study aimed to determine the frequency of dystrophin gene alterations in Iranian DMD/BMD patients using molecular techniques. 146 Iranian DMD/BMD patients have been analyzed using two devised sets of multiplex polymerase chain reaction (M-PCR) followed by multiple ligation-dependent probe amplification (MLPA). Two isolated DMD and BMD patients were analyzed by DNA sequencing. 30.9 % of patients had single-exon deletion while group and contiguous exon deletions were identified in 41 % of the patients. The most numerous exon deletions included exons 45-50 and were identified in the first M-PCR set. Deletion detection rate was 99 % in first M-PCR set and remaining deletions (1 %) were identified in the second M-PCR set. MLPA analysis showed that there were two exons 3-5 and 41-43 duplications (1.4 %) in a BMD and a DMD patient, respectively. Two nonsense mutations including c.633dupA and c.6283 C>T were, respectively, found in a DMD and BMD patient in which c.633dupA has not ever been reported in DMD mutation database and was pathogenic mutation. Besides the report of frequency of dystrophin gene alteration in a subset of Iranian DMD/BMD patients, it was revealed that the proposed M-PCR protocol can be useful in the initial step of molecular diagnosis of DMD/BMD. Exon sequencing would be the final step in determining the mutation status of DMD/BMD patients following MLPA.


Assuntos
Códon sem Sentido , Éxons , Deleção de Genes , Distrofia Muscular de Duchenne/genética , Criança , Humanos , Irã (Geográfico) , Masculino , Estudos Retrospectivos , Análise de Sequência de DNA/métodos
13.
Pak J Med Sci ; 31(5): 1162-6, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26649006

RESUMO

BACKGROUND & OBJECTIVES: Attention deficit hyperactivity disorder (ADHD) is a common heritable psychiatric disorder with a worldwide prevalence of 5%. The etiology of ADHD is still incompletely understood, but several studies, consistently indicate the strong role of genetic factors on this disorder. The aim of this study was to determine the effect of three SNPs rs11122319, rs11122330 and rs6675281 in the etiology of ADHD in an Iranian children. METHODS: In this research work, for the first time, we investigated the association of three SNPs (rs11122330, rs6675281 and rs11122319) in the DISC1 gene with ADHD in Iranian population. Two hundred fourthy subjects composed of 120 patients and 120 healthy controls were included and tetra-primer ARMS PCR technique was used for genotyping all selected SNPs. RESULTS: We found differences in genotype and allele distributions of rs 6675281 polymorphism between our patients and controls. The A, T and A alleles were the more frequent alleles in rs11122319, rs6675281 and rs11122330 polymorphisms in both case and control groups respectively. The TT genotype was more frequent in control group compared to patients. (P value = 0.008, OR= 1.5837, 95% CI= 1.1012 to 2.2776). CONCLUSION: Our findings strengthens the role of DISC1 gene as a susceptibility locus for ADHD and indicate that rs6675281 polymorphism is a susceptibility factor for ADHD for the first time in children reported in an Iranian population in this part of the world.

14.
Dement Geriatr Cogn Disord ; 37(5-6): 257-64, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24281128

RESUMO

One of the most prevalent forms of dementia is Alzheimer's disease (AD). Complex inheritance and multifactorial patterns of late-onset AD (LOAD) along with its heterogeneity are due to the presence of different AD-predisposing genes with different influence on disease development among various populations. A key event in the pathogenesis of AD is the deposition of ß-amyloid peptide, which is derived from the amyloid precursor protein by ß- and γ-secretases. Cathepsin D (CTSD) is an acid protease with ß- and γ-secretase-like features in vitro. An exonic C→T polymorphism at position 224 of the CTSD gene (rs: 17571) has been shown to be associated with the enzyme function of CTSD and with AD. Two studies in the German population reported a strong association of this polymorphism with an increased risk of developing AD, while other studies did not confirm this observation. We tested for this association in a case-control study in 100 Iranian sporadic LOAD patients based on diagnostic criteria of DSM-IV-TR and NINCDS-ADRDA and in 100 normal controls without any personal and family history of AD or other related dementias. Polymerase chain reaction-restriction fragment length polymorphism was set up to detect this polymorphism. Our study demonstrated that T-carrying genotype frequency in AD patients is significantly higher than in controls and there was a 2.5-fold increased risk for developing AD in the T-carrying genotype compared to C/C genotype (odds ratio = 2.5, p = 0.010). The odds ratio for subjects with the apolipoprotein E ε4 (APOE ε4) allele was 2.91 (p = 0.003) and carriers of the CTSD T and APOE ε4 alleles had a 6.25-fold increased risk of the disease (p = 0.0). Our results indicate that CTSD genotype is associated with the disease and a combination of the above risk factors significantly alters the risk for developing AD.


Assuntos
Doença de Alzheimer/genética , Apolipoproteína E4/genética , Catepsina D/genética , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Irã (Geográfico) , Masculino , Polimorfismo Genético
15.
J Mol Neurosci ; 74(3): 75, 2024 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-39112893

RESUMO

Alzheimer's disease is a neurodegenerative disorder with polygenic etiology. Genetic risk variants for Alzheimer's disease differ among populations. Thus, discovering them in each population is clinically important. A total of 118 patients and 97 controls for VDR rs11568820 and 88 patients and 100 healthy controls for MTHFR C677T polymorphism were genotyped to evaluate the association of these polymorphisms with late-onset Alzheimer's disease in the Iranian population, along with their impacts on the response to Rivastigmine treatment. The VDR C allele was significantly associated with Alzheimer's disease and provided protection against it (P = 0.003, RR = 1.14, 95% CI 1.04-1.24), while the T allele increased susceptibility (P = 0.003, RR = 1.93, 95% CI 1.23-3.02). These results were also considerable upon excluding the effect of APOE ε4 allele. The Prevalence-corrected Positive Predictive Value was 1.71% for the VDR CC genotype and 4% for the VDR CT genotype, indicating lower and almost twofold higher chances of developing Alzheimer's disease, respectively. No significant correlation was observed between MTHFR C677T and Alzheimer's disease. Based on our pharmacogenetic study, MTHFR T allele carriers lacking APOE ε4 allele showed a better response to Rivastigmine treatment after a 2-year follow-up. Moreover, patients with VDR CC genotype displayed milder Alzheimer's disease, particularly when coincided with the APOE ε4 allele. The VDR rs11568820 polymorphism affects both Alzheimer's disease risk and the response to Rivastigmine in Iranian patients. Also, MTHFR C677T polymorphism may play a role in the response to Rivastigmine, through a pathway that needs to be elucidated in future studies.


Assuntos
Doença de Alzheimer , Metilenotetra-Hidrofolato Redutase (NADPH2) , Polimorfismo de Nucleotídeo Único , Receptores de Calcitriol , Rivastigmina , Humanos , Doença de Alzheimer/genética , Doença de Alzheimer/tratamento farmacológico , Rivastigmina/uso terapêutico , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Masculino , Feminino , Idoso , Irã (Geográfico) , Receptores de Calcitriol/genética , Idoso de 80 Anos ou mais , Inibidores da Colinesterase/uso terapêutico , Inibidores da Colinesterase/farmacologia , Pessoa de Meia-Idade , Fármacos Neuroprotetores/uso terapêutico , Fármacos Neuroprotetores/farmacologia
16.
ACS Omega ; 8(11): 10365-10372, 2023 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-36969445

RESUMO

This study is undertaken to evaluate the potential of a commercial molecular sieve to remove diverse sulfur compounds from condensate with high aromatic on an industrial scale. For the first part of this study, the adsorbent is characterized in detail using inductively coupled plasma optical emission spectroscopy, X-ray diffraction, field-emission scanning electron microscopy, and Brunauer-Emmett-Teller analysis. For the second part, dynamic breakthrough experiments on an industrial scale are performed to assess the dynamic adsorption performance of a commercial molecular sieve. Dynamic experiments show that the adsorbent effectively removes the sulfur compound from condensate that has approximately 900 ppmw S. In more detail, this commercial molecular sieve selectively desulfurizes condensate to about 12 ppmw S, and this is achieved when the concentration of non-sulfur aromatic is greater than 15 times higher than the total sulfur. As regeneration is a crucial part of the continuous adsorption-regeneration cycling process, the final part of this study is focused on finding a desorption method to avoid a sulfur concentration peak in tail gas.

17.
JIMD Rep ; 63(3): 231-239, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35433176

RESUMO

Citrullinemia type 1 is an autosomal recessive metabolic disease caused by ASS1 gene mutations encoding argininosuccinic acid synthetase enzyme which is within the pathway of arginine and nitric oxide biosynthesis. Disease confirmation was done by ASS1 gene mutation analysis using next-generation sequencing, DNA Sanger sequencing. The study group was 17 citrullinemia type 1 patients from 10 unrelated families referred to Iranian National Society for Study on Inborn Errors of Metabolism's clinic between 2008 and 2020. Clinical, laboratory, and molecular data were retrospectively evaluated. Eleven different ASS1 gene mutations were detected in 13 (76%) of 17 neonatal, three (18%) of 17 late infantile, and one (6%) of 17 asymptomatic patients. Severe developmental delay and intractable seizures despite metabolic control was outcome of neonatal form survivor. Two late infantile form patients live metabolically controlled with quite normal performance. DNA mutations are as follows: seven missense, one nonsense, and two insertion/deletion mutations in 12, two, and three patients, respectively. Five novel mutations were detected including a homozygous GG deletion in exon 12 (c.790_791delGG;p.Gly264Profs*3) and a homozygous mutation in exon 7 (c.440C>T; p.Met147Thr), both causing infantile (late onset) form; a homozygous mutation in exon 6 (c.1130T>C; p.Met376Thr) causing neonatal form; two compound heterozygote mutations in exon 14 (c.1167_1168insC:p.Gly390Argfs*22& c.1186T>A; p.Ser396Thr) causing asymptomatic form. Five (38%) patients with classic neonatal form had mutation in exon 14 of ASS1 (c.1168G>A; p.Gly390Arg). Classic neonatal was the most common form of disease in Iranian-studied patients and homozygote c.1168G>A was the most frequent ASS1 gene mutation. Global neonatal screening for citrullinemia type 1 in Iran is recommended and certain mutations can be used for screening severe form in this population.

18.
ACS Appl Energy Mater ; 5(5): 5298-5306, 2022 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-35647493

RESUMO

Growth approaches that limit the interface area between layers to nanoscale regions are emerging as a promising pathway to limit the interface defect formation due to mismatching lattice parameters or thermal expansion coefficient. Interfacial defect mitigation is of great interest in photovoltaics as it opens up more material combinations for use in devices. Herein, an overview of the vapor-liquid-solid and selective area epitaxy growth approaches applied to zinc phosphide (Zn3P2), an earth-abundant absorber material, is presented. First, we show how different morphologies, including nanowires, nanopyramids, and thin films, can be achieved by tuning the growth conditions and growth mechanisms. The growth conditions are also shown to greatly impact the defect structure and composition of the grown material, which can vary considerably from the ideal stoichiometry (Zn3P2). Finally, the functional properties are characterized. The direct band gap could accurately be determined at 1.50 ± 0.1 eV, and through complementary density functional theory calculations, we can identify a range of higher-order band gap transitions observed through valence electron energy loss spectroscopy and cathodoluminescence. Furthermore, we outline the formation of rotated domains inside of the material, which are a potential origin of defect transitions that have been long observed in zinc phosphide but not yet explained. The basic understanding provided reinvigorates the potential use of earth-abundant II-V semiconductors in photovoltaic technology. Moreover, the transferrable nanoscale growth approaches have the potential to be applied to other material systems, as they mitigate the constraints of substrate-material combinations causing interface defects.

19.
Mater Adv ; 3(2): 1295-1303, 2022 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-35178521

RESUMO

Zinc phosphide, Zn3P2, is a semiconductor with a high absorption coefficient in the spectral range relevant for single junction photovoltaic applications. It is made of elements abundant in the Earth's crust, opening up a pathway for large deployment of solar cell alternatives to the silicon market. Here we provide a thorough study of the optical properties of single crystalline Zn3P2 thin films grown on (100) InP by molecular beam epitaxy. The films are slightly phosphorus-rich as determined by Rutherford backscattering. We elucidate two main radiative recombination pathways: one transition at approximately 1.52 eV attributed to zone-center band-to-band electronic transitions; and a lower-energy transition observed at 1.3 eV to 1.4 eV attributed to a defect band or band tail related recombination mechanisms. We believe phosphorus interstitials are likely at the origin of this band.

20.
Int J Neurosci ; 121(12): 684-90, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21815873

RESUMO

CD24 is a glycosylphosphatidylinositol (GPI)-linked cell surface glycoprotein expressed in central nervous system cells. Recent investigations have suggested that CD24 participates in the pathogenesis of experimental autoimmune encephalomyelitis (EAE), an animal model of multiple sclerosis (MS). However, a limited number of studies have been published regarding the contribution of CD24 to the risk and severity of MS in humans. We investigated the contribution of a CD24 single nucleotide polymorphism (SNP) to MS disease risk and severity. We also studied mRNA expression of the CD24 gene in Iranian MS patients using quantitative real-time polymerase chain reaction (PCR). Our findings showed that the CD24(v/v) genotype was significantly more frequent in MS patients compared with controls (p(c) = .004). Moreover, a statistically significant difference in the Multiple Sclerosis Severity Score (MSSS) was found between MS patients carrying CD24(a/a) and CD24(v/v) genotypes (p = .008). The results also indicated that the expression of CD24 mRNA was 1.7 times more in MS patients compared with controls. In conclusion, our results suggest that the CD24(v/v) genotype influences both MS disease risk and severity in Iranian MS patients, and the high disease severity in CD24(v/v) patients may indicate that they require more aggressive treatment than do patients carrying CD24(a/a).


Assuntos
Antígeno CD24/biossíntese , Antígeno CD24/genética , Regulação da Expressão Gênica , Genótipo , Esclerose Múltipla Recidivante-Remitente/epidemiologia , Esclerose Múltipla Recidivante-Remitente/metabolismo , Adulto , Idoso , Feminino , Regulação da Expressão Gênica/imunologia , Frequência do Gene/imunologia , Humanos , Irã (Geográfico)/epidemiologia , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla Recidivante-Remitente/genética , Polimorfismo de Nucleotídeo Único/imunologia , Índice de Gravidade de Doença , Adulto Jovem
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