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Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
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Anas M. Alazami Amr Al-Saif Abdulaziz Al-Semari Saeed Bohlega Soumaya Zlitni Fatema Alzahrani Prashant Bavi Namik Kaya Dilek Colak Hanif Khalak Andy Baltus Borut Peterlin Sumita Danda Kailash P. Bhatia Susanne A. Schneider Nadia Sakati Christopher A. Walsh Futwan Al-Mohanna Brian Meyer Fowzan S. Alkuraya 《American journal of human genetics》2008,83(6):684-691
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also referenced as Woodhouse-Sakati syndrome) is a rare autosomal recessive multisystemic disorder. We have identified a founder mutation consisting of a single base-pair deletion in C2orf37 in eight families of Saudi origin. Three other loss-of-function mutations were subsequently discovered in patients of different ethnicities. The gene encodes a nucleolar protein of unknown function, and the cellular phenotype observed in patient lymphoblasts implicates a role for the nucleolus in the pathogenesis of this disease. Our findings expand the list of human disorders linked to the nucleolus and further highlight the developmental and/or maintenance functions of this organelle. 相似文献
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Leptin receptor long-form signalling in a human liver cell line. 总被引:2,自引:0,他引:2
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M. A. Hanif M. A. Islam M. A. B. Siddik M. R. Chaklader 《Zeitschrift fur angewandte Ichthyologie》2018,34(4):1065-1067
The length‐weight relationships (LWRs) of three fish species; Toxotes chatareus (Hamilton, 1822), Datnioides polota (Hamilton, 1822), and Chela cachius (Hamilton, 1822) collected between September 2016 and August 2017 from Tentulia estuary of Bangladesh were analyzed. Fish were caught seasonally using set bag net and cast net with mesh size of 0.5 cm and < 0.5 cm, respectively. LWRs of Toxotes chatareus, Datnioides polota and Chela cachius were calculated as W = 0.0154L2.926 (r2 = .962), W = 0.0149L3.106 (r2 = .992) and W = 0.0109L2.968 (r2 = .981), respectively. The study provides a new maximum total length for Chela cachius. 相似文献
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Muhammad Rafiq Shahid Muhammad Shakeel Muhammad Farooq Muhammad Shahid Arain Chaudhary Muhammad Shahid Hanif Haichen Yin Muhammad Akram Saghir Ahmad 《Arthropod-Plant Interactions》2018,12(2):303-309
Pink bollworm (Pectinophora gossypiella) is recognized as an important pest of cotton and can damage flowers and bolls of both Bt and non-Bt cultivars. Cry-1Ac in Bt cultivars is considered very effective in controlling lepidopterous larvae; therefore, the present study was carried out to investigate the impact of Cry1-Ac and the earliness index on the natural incidence of P. gossypiella at the Cotton Research Institute, Faisalabad. During 2015–2016, ten cultivars were used to determine the incidence of pink bollworm infestation. The experiment was repeated for 2 years. During the next year, Cry1-Ac and earliness traits of selected cultivars were also observed to determine their impact on pink bollworm. Correlation coefficient results regarding days to first flower (r value = 0.66) as well as the earliness index (r value = ? 0.62) exhibited a strong association with pink bollworm, but Cry1-Ac had a weak association (r value = ? 0.058) with pink bollworm. The coefficient of determination (R 2) explained that variability of pink bollworm due to Cry1-Ac, the earliness index, and days to first flower was 18.0, 38.5, and 43.5%, respectively. Principal component analysis results showed that the first two PCs expressed 87% of the total variability. Clusters made on the basis of the studied parameters revealed that clusters 2 and 3 comprised the cotton cultivars possessing earliness traits compared with cluster 1. Therefore, it can be concluded that the earliness index in cotton is an important component for the sustainable management of pink bollworm infestation, the need for which is endless to evade the pink bollworm problem in the era of climate change. 相似文献
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Shaista Akhund Abida Akram Nafeesa Qudsia Hanif Rahmatullah Qureshi Farah Naz Brian Gagosh Nayyar 《Mycotoxin Research》2017,33(2):147-155
Various cultivars of red chilli were collected from a small town named Kunri, located in the province Sindh, Pakistan. This town is a hub of red chilli production in Asia. A total of 69 samples belonging to 6 cultivars were obtained and analysed for the occurrence of aflatoxins and Aspergillus flavus, to explore the potential of resistant and susceptible germplasm. Aflatoxins were detected by thin layer chromatography (TLC) and high performance liquid chromatography (HPLC), while A. flavus was isolated and identified using agar plate, blotter paper, deep freezing and dilution techniques. Molecular characterization using internal transcribed spacer (ITS) 1/4 and A. flavus specific FL1-F/R primers confirmed the identity of A. flavus. The data revealed that 67 and 75% samples contaminated with aflatoxin B1 (AFB1) and with A. flavus, respectively. A highly susceptible chilli cultivar was ‘Nagina’, showing 78.8% frequency of total aflatoxins (1.2–600 μg/kg) and a mean of 87.7 μg/kg for AFB1 and 121.9 μg/kg for total aflatoxins. A. flavus was detected with 93% frequency and 2.14 × 104 colony forming units. In contrast, cultivars ‘Kunri’ and ‘Drooping Type’ were found to be resistant, with low levels of aflatoxins and fungal counts. The study was conducted for the first time to explore two potential cultivars that were less susceptible towards A. flavus and aflatoxin contamination. These cultivars could be preferably cultivated and thereby boost Pakistan’s chilli production. 相似文献