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Fanconi Anemia
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Differential diagnoses for FA include hereditary breast and ovarian cancer (heterozygous pathogenic variants in FANCD1/BRCA2, FANCJ/BRIP1, and FANCN/PALB2), pancreatic cancer (heterozygous pathogenic variants in FANCN/PALB2), xeroderma pigmentosum (FANCN), Cockayne syndrome (FANCN), XFE progeroid syndrome (FANCN), Bloom syndrome (spontaneous chromosome breakage independent of diepoxybutane), ataxia-telangiectasia (spontaneous chromosome breakage independent of diepoxybutane), Nijmegen breakage syndrome (NBS; short stature, progressive microcephaly with loss of cognitive skills, premature ovarian failure in females, recurrent sinopulmonary infections, and an increased risk for lymphoma; increased chromosome breakage with MMC; autosomal recessive disorder due to NBN pathogenic variants), Seckel syndrome (growth retardation, microcephaly with intellectual disability, characteristic “bird-headed” facial appearance, pancytopenia or AML, increased chromosome breakage with DNA crosslinking agents such as MMC and DEB, autosomal recessive disorder due to biallelic pathogenic variants in ATR, NIN, ATRIP, RBBP8, CEP152, CENPJ, and CEP63), neurofibromatosis type 1 (café-au-lait macules), TAR syndrome (thrombocytopenia with absent radii), dyskeratosis congenita, Diamond−Blackfan anemia, Shwachman−Diamond syndrome, severe congenital neutropenia, amegakaryocytic thrombocytopenia, Baller−Gerold syndrome, Rothmund−Thomson syndrome, Roberts syndrome, Warsaw breakage syndrome, DK-phocomelia, VACTERL hydrocephalus syndrome (radial ray defects), and Wiskott−Aldrich syndrome [1,2,28–30].
Effects of Type 2 Diabetes Mellitus on Gene Expressions of Mouse Meibomian Glands
Published in Current Eye Research, 2020
Erdost Yıldız, Noushin Zibandeh, Berna Özer, Afsun Şahin
In the last stage of gene ontology analysis, we have focused on four groups of important biological processes affected by type 2 DM: lipid metabolism, inflammatory and immune response, apoptosis, cell growth and differentiation. In type 2 DM, decreased fatty acid oxidation (Prkag2) with increased cholesterol and triglyceride metabolisms (Serpina12) lead to structural changes in lipid layer of tear film.25 This finding is correlated with previous literature which mentions lipid layer thickness in tear film is significantly decreased at type 2 diabetic patients.26 While lipid layer thickness in tear film was significantly decreasing in type 2 diabetic patients, tear evaporation rate also significantly increased.27 In spontaneous diabetic mice, even their genes related with the immune response to pathogens (Lyz2, Gbp1, Il1f5) are down-regulated, but are responsible for chronic inflammation (Fcer1g, Cfl1, Il6st, Tnfrsf4) are frequently up-regulated. It is correlated with general chronic inflammation situation with depleted immune response in type 2 DM.28 Also, we noticed up-regulation of genes related with p53 signaling pathway (Cep63, Pdrg1) which is a pro-apoptotic pathway activated by stress.
Identification of a complex population of chromatin-associated proteins in the European sea bass (Dicentrarchus labrax) sperm
Published in Systems Biology in Reproductive Medicine, 2018
Ferran Barrachina, Dafni Anastasiadi, Meritxell Jodar, Judit Castillo, Josep Maria Estanyol, Francesc Piferrer, Rafael Oliva
The European sea bass sperm also contains a subset of centrosomal proteins (Table 1). These proteins are highly relevant since the sperm is specifically providing the initial centriole to the oocyte in most species, which builds the first centrosome that is essential for early development (Pimenta-Marques et al. 2016). Furthermore, it is known that alterations in centrosomal proteins cause male infertility and, in some cases, severe developmental defects. For instance, the European sea bass sperm contains the centrosomal protein of 63 kDa (CEP63), whose whole mutations are known to cause male infertility, in addition to microcephaly and dwarfism (Marjanović et al. 2015); the Centrin-1 protein (CETN1), whose germ line deletion in mice has been reported to cause male infertility (Avasthi et al. 2013); and the centrosomal protein of 135 kDa (CEP135), whose homozygous mutation has been associated with multiple sperm flagella morphological abnormalities in infertile men, as well as pregnancy failure following embryo transfer (Sha et al. 2017). Finally, the Alstrom syndrome protein 1 (ALMS1) has also been found in the European sea bass sperm, whose mutations in the corresponding human gene are responsible for Alstrom syndrome, a disorder in which key metabolic and endocrinological features are disturbed, resulting in childhood-onset obesity, metabolic syndrome, diabetes, and infertility (Arsov et al. 2006). Thus, the many different centrosomal proteins detected in the present work together with the multiple lines of evidence linking their anomalies with male infertility also suggest a relevant function for the European sea bass sperm proteins.