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1.
Biotechnol Appl Biochem ; 69(6): 2296-2303, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34826358

RESUMO

Autosomal primary microcephaly (MCPH) is a heterogenetic disorder that affects brain's cerebral cortex size and leads to a reduction in the cranial vault. Along with the hallmark feature of reduced head circumference, microcephalic patients also exhibit a variable degree of intellectual disability as well. Genetic studies have reported 28 MCPH genes, most of which produce microtubule-associated proteins and are involved in cell division. Herein this study, 14 patients from seven Pashtun origin Pakistani families of primary microcephaly were analyzed. Mutation analysis was performed through targeted Sanger DNA sequencing on the basis of phenotype-linked genetic makeup. Genetic analysis in one family found a novel pathogenic DNA change in the abnormal spindle microtubule assembly (ASPM) gene (NM_018136.4:c.3871dupGA), while the rest of the families revealed recurrent nonsense mutation c.3978G>A (p.Trp1326*) in the same gene. The novel reported frameshift insertion presumably truncates the protein p.(Lys1291Glyfs*14) and deletes the N-terminus domains. Identification of novel ASPM-truncating mutation expands the mutational spectrum of the ASPM gene, while mapping of recurrent mutation c.3978G>A (p.Trp1326*) will aid in establishing its founder effect in the Khyber Pakhtunkhwa (KPK) inhabitant population of Pakistan and should be suggestively screened for premarital counseling of MCPH susceptible families. Most of the recruited families are related to first-degree consanguinity. Hence, all the family elders were counseled to avoid intrafamilial marriages.


Assuntos
Microcefalia , Humanos , Microcefalia/genética , Paquistão , Proteínas do Tecido Nervoso/genética , Mutação , Análise de Sequência de DNA
2.
Sci Rep ; 14(1): 4941, 2024 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-38418483

RESUMO

Terminal irrigation drought stress is one of the most drastic abiotic stress to diminish the wheat crop development and grains yield in arid regions of the world. The use of moringa leaf extract (MLE30) via seed priming technique is investigated as an organic and sustainable approach for the mitigation of drought stress along with curtailed seed rate in wheat crop. The study investigated the interaction of organic seed priming: control (dry seeds), hydro-priming, MLE30-priming, seed rate: recommended @ 125 kg ha-1, curtailed @ 25 kg ha-1, and terminal irrigation drought (TID): normal irrigation, mild-TID, severe-TID in wheat crop at agronomic research station, Bahawalpur, Pakistan during the wheat winter season of 2021-2022 and 2022-2023. The application of organic MLE30-priming with curtailed seed rate enhanced antioxidant enzyme activity especially total soluble proteins by 15%, superoxide dismutase by 68%, peroxidase by 16%, catalase by 70%, ascorbic acid by 17% and total protein contents by 91% under severe-TID. Yield and yield-related morphological attributes performed better in MLE30-priming as compared to hydro-priming. An effective trend was observed in the plant's chlorophyll contents, K+, and water use efficiency after being treated with MLE30-priming followed by hydro-priming under curtailed seed rate. The higher benefit-cost ratio and net income return were observed with the application of MLE30-priming with curtailed seed rate under mild-TID and severe-TID. So, it is suggested to adopt the MLE30-priming technique along with a curtailed seed rate for improving the crop establishment, stress regulation, and economic return under limited availability of irrigation water. The project findings recommended that the application of exogenous application of organic MLE30-seed priming favored and compensated the maximum wheat grains production under curtailed seed rate @ 25 kg ha-1 and induced terminal drought stress at flowering and milking conditions.


Assuntos
Antioxidantes , Triticum , Antioxidantes/metabolismo , Secas , Sementes , Água/metabolismo
3.
Acta Crystallogr Sect E Struct Rep Online ; 64(Pt 1): o334, 2007 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-21200895

RESUMO

In the title compound, C(17)H(17)Cl(2)NO(2), the NH group exhibits an intra-molecular hydrogen bond to the carbonyl O atom and no inter-molecular hydrogen bonding, in contrast with previous studies. The dihedral angle between the two benzene rings is 58.57 (5)°. The ester group is planar, the greatest deviation from planarity being 0.0135 (11) Šfor the ether O atom.

4.
Front Plant Sci ; 7: 597, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27200065

RESUMO

The present study was conducted to investigate the response of two wheat cultivars (AARI-11 and Millat-11) to a foliar application of four growth enhancers which include: {H2O (water), MLE30 (moringa leaf extract), KCl (potassium chloride), and BAP (benzyl-amino purine)}, within the six irrigation water-regimes which are applied at the various critical growth stages such as crown root initiation (CRI), tillering (T), booting (B), and heading (H). Irrigation water-regimes include: CRI+T+B, CRI+T, CRI+B, T+B, T+H, and control (CRI+T+B+H). The growth enhancers i.e., H2O, MLE30 (1:30), KCl (2%), and BAP (50 mg L(-1)) were applied @ 500 L ha(-1) at tillering and heading stages. The results demonstrated some increased quantities of both enzymatic (superoxide dismutase, peroxidase, catalase) and non-enzymatic (ascorbic acid, phenol) antioxidants in leaves of AARI-11 when MLE30 was applied under T+B and T+H irrigation water-regimes. Similar results were also observed in the case of leaf chlorophyll "a" and "b" and K(+) contents in both cultivars under control, T+B and CRI+T+B irrigation water regimes. AARI-11 produced the highest biological and grain yield, due to the application of MLE30 and BAP under control, CRI+T+B, T+B, and T+H irrigation water-regimes. However, KCl lagged behind among the treatments set for both cultivars under all the irrigation water-regimes. Foliar spray of MLE30 remained prominent growth enhancer and stresses mitigating agent under water deficit conditions particularly under T+B and T+H irrigation water-regimes. Moreover, economic analysis indicated that the foliar application of MLE30 is a cost effective and environment friendly strategy for the maximum yield and income.

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