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  • 1.
    Ben Said, Mariem
    et al.
    Centre Biotechnol Sfax, Tunisia .
    Chouchene, Ebtissem
    Institute Hedi Raies Ophtalmol Tunis, Tunisia .
    Ben Salem, Salma
    Centre Biotechnol Sfax, Tunisia .
    Daoud, Kods
    Centre Biotechnol Sfax, Tunisia .
    Largueche, Leila
    Institute Hedi Raies Ophtalmol Tunis, Tunisia .
    Bouassida, Walid
    CHUH Bourguiba Sfax, Tunisia .
    Benzina, Zeineb
    CHUH Bourguiba Sfax, Tunisia .
    Ayadi, Hammadi
    Centre Biotechnol Sfax, Tunisia .
    Söderkvist, Peter
    Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Health Sciences.
    Matri, Leila
    Institute Hedi Raies Ophtalmol Tunis, Tunisia .
    Hmani-Aifa, Mounira
    Centre Biotechnol Sfax, Tunisia .
    Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene2013In: Gene, ISSN 0378-1119, E-ISSN 1879-0038, Vol. 528, no 2, p. 288-294Article in journal (Refereed)
    Abstract [en]

    Congenital microphthalmia (CMIC) is a common developmental ocular disorder characterized by a small, and sometimes malformed, eye. Posterior microphthalmia (PM) and nanophthalmia are two rare subtypes of isolated CMIC characterized by extreme hyperopia due to short axial length and elevated lens/eye volume ratio. While nanophthalmia is associated with a reduced size in both anterior and posterior segments, PM involves a normal-size anterior chamber but a small posterior segment. less thanbrgreater than less thanbrgreater thanSeveral genes encoding transcription and non-transcription regulators have been identified in different forms of CMIC. MFRP gene mutations have, for instance, been associated with nanophthalmia, and mutations in the recently identified PRSS56 gene have been linked to PM. So far, these two forms of CMIC have been associated with 9 mutations in PRSS56. Of particular interest, a c.1059_1066insC mutation has recently been reported in four Tunisian families with isolated PM and one Tunisian family with nanophthalmia. Here, we performed a genome-wide scan using a high density single nucleotide polymorphism (SNP) array 50 K in a large consanguineous Tunisian family (PM7) affected with PM and identified the same causative disease mutation. A total of 24 polymorphic markers spanning the PRSS56 gene in 6 families originating from different regions of Tunisia were analyzed to investigate the origin of the c.1059_1066insC mutation and to determine whether it arose in a common ancestor. A highly significant disease-associated haplotype, spanning across the 146 kb of the 2q37.1 chromosome, was conserved in those families, suggesting that c.1059_1066insC arose from a common founder. The age of the mutation in this haplotype was estimated to be around 1850 years. The identification of such founder effects may greatly simplify diagnostic genetic screening and lead to better prognostic counseling.

  • 2.
    Hasmats, Johanna
    et al.
    Royal Institute Technology, Sweden .
    Kupershmidt, Ilya
    NextBio, CA 95050 USA Royal Institute Technology, Sweden .
    Rodriguez-Antona, Cristina
    Spanish National Cancer Centre CNIO, Spain .
    Jane Su, Qiaojuan
    NextBio, CA 95050 USA .
    Suleman Khan, Muhammad
    Linköping University, Department of Medical and Health Sciences, Division of Drug Research. Linköping University, Faculty of Health Sciences.
    Jara, Carlos
    Fdn Hospital Alcorcon FHA, Spain .
    Mielgo, Xabier
    Fdn Hospital Alcorcon FHA, Spain .
    Lundeberg, Joakim
    Royal Institute Technology, Sweden .
    Green, Henrik
    Linköping University, Department of Medical and Health Sciences, Clinical Pharmacology. Linköping University, Faculty of Health Sciences.
    Identification of candidate SNPs for drug induced toxicity from differentially expressed genes in associated tissues2012In: Gene, ISSN 0378-1119, E-ISSN 1879-0038, Vol. 506, no 1, p. 62-68Article in journal (Refereed)
    Abstract [en]

    The growing collection of publicly available high-throughput data provides an invaluable resource for generating preliminary in silico data in support of novel hypotheses. In this study we used a cross-dataset meta-analysis strategy to identify novel candidate genes and genetic variations relevant to paclitaxel/carboplatin-induced myelosuppression and neuropathy. We identified genes affected by drug exposure and present in tissues associated with toxicity. From ten top-ranked genes 42 non-synonymous single nucleotide polymorphisms (SNPs) were identified in silico and genotyped in 94 cancer patients treated with carboplatin/paclitaxel. We observed variations in 11 SNPs, of which seven were present in a sufficient frequency for statistical evaluation. Of these seven SNPs. three were present in ABCA1 and ATM, and showed significant or borderline significant association with either myelosuppression or neuropathy. The strikingly high number of associations between genotype and clinically observed toxicity provides support for our data-driven computations strategy to identify biomarkers for drug toxicity.

  • 3.
    Nilsson, Isabelle
    et al.
    Östergötlands Läns Landsting, LMÖ - Laboratoriemedicin i Östergötland. Linköping University, Department of Medicine and Care, Pharmacology. Linköping University, Faculty of Health Sciences.
    Svensson, Samuel
    Linköping University, Department of Medicine and Care, Pharmacology. Linköping University, Faculty of Health Sciences.
    Monstein, Hans-Jurg
    Östergötlands Läns Landsting, LMÖ - Laboratoriemedicin i Östergötland. Linköping University, Department of Biomedicine and Surgery. Linköping University, Faculty of Health Sciences.
    Molecular cloning of a putative Ciona intestinalis cionin receptor, a new member of the CCK/gastrin receptor family2003In: Gene, ISSN 0378-1119, E-ISSN 1879-0038, Vol. 323, no 1-2, p. 79-88Article in journal (Refereed)
    Abstract [en]

    Cionin, a peptide showing similarities with cholecystokinin and gastrin has been shown to be expressed in the gut and neural ganglion of the protochordate Ciona intestinalis. The present report describes the cloning of a putative cionin receptor (CioR), a new member of the CCK/gastrin family from the gastrointestinal tract of C. intestinalis. mRNA from the stomach of C. intestinalis was isolated using a modified RNA extraction procedure and, subsequently, reverse-transcribed into single-stranded cDNA by means of rapid amplification of 5′- and 3′-cDNA ends (RACE-PCR), followed by full-length PCR amplification. The cloned full-length PCR amplicons contained a short upstream open-reading frame (uORF) coding for a putative 16 amino acid long peptide, followed by a long open reading frame encoding a 526 amino acid putative CioR protein. At the amino acid level, the putative CioR protein shared 35–40% homology with cloned mammalian, chicken, and Xenopus laevis CCK receptors. Phylogenetic analysis revealed that the chicken and X. laevis CCK receptors are orthologues of the mammalian CCK2 receptors whereas CioR protein forms a clade with vertebrate cholecystokinin receptors. Moreover, we found that the CioR cDNA and deduced amino acid sequences were found to correspond to the annotated CCK/gastrin-like receptor gene on Scaffold 117 (C. intestinalis draft genome project, Joint Genome Institute database; http://www.jgi.doe.gov).

  • 4.
    Saber-Ayad, Maha
    et al.
    College of Medicine, Research Institute for Medical and Health Sciences, University of Sharjah, United Arab Emirates; College of Medicine, Cairo University, Egypt.
    Manzoor, Shaista
    College of Medicine, Research Institute for Medical and Health Sciences, University of Sharjah, United Arab Emirates.
    El Serafi, Ahmed Taher
    College of Medicine, Research Institute for Medical and Health Sciences, University of Sharjah, United Arab Emirates; College of Medicine, Suez Canal University, Egypt .
    Mahmoud, Ibrahim
    College of Medicine, University of Sharjah, United Arab Emirates.
    Hammoudeh, Sarah
    College of Medicine, Research Institute for Medical and Health Sciences, University of Sharjah, United Arab Emirates.
    Rani, Aghila
    Research Institute for Medical and Health Sciences, University of Sharjah, United Arab Emirates.
    Abusnana, Salah
    College of Medicine, Research Institute for Medical and Health Sciences, University of Sharjah, United Arab Emirates.
    Sulaiman, Nabil
    College of Medicine, Research Institute for Medical and Health Sciences, University of Sharjah, United Arab Emirates.
    The FTO rs9939609 “A” allele is associated with impaired fasting glucose and insulin resistance in Emirati population2019In: Gene, ISSN 0378-1119, E-ISSN 1879-0038, Vol. 681, p. 93-98Article in journal (Refereed)
    Abstract [en]

    Background: Fat mass and obesity-associated protein gene variants have shown diverse influence on body weight and metabolism across different populations. Overweight, obesity and metabolic syndrome are multifactorial major health problems in the UAE and worldwide. Insulin resistance represents the link between overweight and development of metabolic syndrome and type 2 diabetes mellitus. We investigated two (FTO) variants in Emirati population, in relation to insulin resistance and different parameters of metabolic syndrome.

    Methods: We recruited 259 Emiratis through the UAE National Diabetes and Lifestyle Project. Ethical approval was obtained. Besides basic data collection, venous blood samples were collected. Fasting blood glucose, Lipid profile, and insulin levels were measured. Genotyping for (FTO) rs9939609 (A>T) and rs9930506 (G>A) were performed using real time-PCR. Insulin resistance were identified using HOMA2-IR calculation; with a cut-off point of 1.4 for female and 1.18 for male subjects.

    Results: The study included 259 Emiratis (age range 30-53 years, mean 41.76 years, 54.4% females), 24.5% are diabetic and 30.8% are hypertensive, with body mass index of 28.4 ± 5.9 and 28.7 ± 5.7 kg/m2 in female and male subjects, respectively. Homozygous A of rs9939609 showed significantly higher fasting glucose compared to other genotypes (p = 0.04) with a trend of higher insulin level and HOMA-2IR. The A/A diabetic patients (n = 13) showed significantly higher insulin levels compared to other genotypes. G allele of rs9930506 showed a trend of higher fasting glucose and HOMA-2IR, but lower insulin level and HbA1c. No association of genotypes was detected with other components of metabolic syndrome.

    Conclusion: There is an association of FTO rs9939609 A/A genotype and impaired fasting glucose and insulin resistance. Homozygous A genotype diabetic patients may be more vulnerable to blood glucose fluctuation. Focused genotyping can help the health care providers to identify high risk groups of both normal population and diabetic patients to intervene accordingly.

  • 5.
    Tababi, Mouna
    et al.
    Linköping University, Department of Biomedical and Clinical Sciences, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences.
    Frikha, Fakher
    Univ Sfax, Tunisia.
    Volpe, Massimiliano
    Linköping University, Department of Biomedical and Clinical Sciences, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences.
    Gimm, Oliver
    Linköping University, Department of Biomedical and Clinical Sciences, Division of Surgery, Orthopedics and Oncology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Surgery, Orthopaedics and Cancer Treatment, Department of Surgery in Linköping.
    Söderkvist, Peter
    Linköping University, Department of Biomedical and Clinical Sciences, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences.
    Domain landscapes of somatic NF1 mutations in pheochromocytoma and paraganglioma2023In: Gene, ISSN 0378-1119, E-ISSN 1879-0038, Vol. 872, article id 147432Article in journal (Refereed)
    Abstract [en]

    Pheochromocytoma and paraganglioma (PPGL), are rare neuroendocrine tumors arising from the adrenal me-dulla and extra-adrenal paraganglia, respectively. Up to about 60% are explained by germline or somatic mu-tations in one of the major known susceptibility genes e.g., in NF1, RET, VHL, SDHx, MAX and HRAS. Targeted Next Generation Sequencing was performed in 14 sporadic tumors using a panel including 26 susceptibility genes to characterize the mutation profile. A total of 6 germline and 8 somatic variants were identified. The most frequent somatic mutations were found in NF1 (36%), four have not been reported earlier in PCC or PGL. Gene expression profile analysis showed that NF1 mutated tumors are classified into RTK3 subtype, cluster 2, with a high expression of genes associated with chromaffin cell differentiation, and into a RTK2 subtype, cluster 2, as well with overexpression of genes associated with cortisol biosynthesis. On the other hand, by analyzing the entire probe set on the array and TCGA data, ALDOC was found as the most significantly down regulated gene in NF1-mutated tumors compared to NF1-wild-type. Differential gene expression analysis showed a significant difference between Nt -and Ct-NF1 domains in mutated tumors probably engaging different cellular pathways. Notably, we had a metastatic PCC with a Ct-NF1 frameshift mutation and when performing protein docking analysis, Ct-NF1 showed an interaction with Nt-FAK suggesting their involvement in cell adhesion and cell growth. These results show that depending on the location of the NF1-mutation different pathways are activated in PPGLs. Further studies are required to clarify their clinical significance.

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