| 1. |
- Entesarian, Miriam, et al.
(author)
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FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)
- 2007
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In: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 15:3, s. 379-382
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Journal article (peer-reviewed)abstract
- Aplasia of lacrimal and salivary glands (ALSG) is an autosomal dominant congenital anomaly characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems. Affected individuals present with irritable eyes and dryness of the mouth with variable expressivity. Mutations in FGF10 were recently described in ALSG and in lacrimo-auriculo-dento-digital (LADD) syndrome which are overlapping clinical entities. We present here two families with ALSG associated with missense mutations (R80S and G138E, respectively) affecting highly conserved residues in FGF10. The clinical features of these patients further broaden the knowledge of FGF10-related phenotypes.
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| 2. |
- Fresard, Laure, et al.
(author)
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
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In: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
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Journal article (peer-reviewed)abstract
- It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
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| 3. |
- Kant Bhatia, Shashi, et al.
(author)
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An overview on microalgal-bacterial granular consortia for resource recovery and wastewater treatment
- 2022
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In: Bioresource Technology. - : Elsevier. - 0960-8524 .- 1873-2976. ; 351
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Research review (peer-reviewed)abstract
- Excessive generation of wastewater is a matter of concern around the globe. Wastewater treatment utilizing a microalgae-mediated process is considered an eco-friendly and sustainable method of wastewater treatment. However, low biomass productivity, costly harvesting process, and energy extensive cultivation process are the major bottleneck. The use of the microalgal-bacteria granular consortia (MBGC) process is economic and requires less energy. For efficient utilization of MBGC, knowledge of its structure, composition and interaction are important. Various microscopic, molecular and metabolomics techniques play a significant role in understating consortia structure and interaction between partners. Microalgal-bacteria granular consortia structure is affected by various cultivation parameters like pH, temperature, light intensity, salinity, and the presence of other pollutants in wastewater. In this article, a critical evaluation of recent literature was carried out to develop an understanding related to interaction behavior that can help to engineer consortia having efficient nutrient removal capacity with reduced energy consumption.
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