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See detailGenetic basis of congenital erythrocytosis: mutation update and online databases.
Bento, Celeste; Percy, Melanie J.; Gardie, Betty et al

in Human mutation (2014), 35(1), 15-26

Congenital erythrocytosis (CE), or congenital polycythemia, represents a rare and heterogeneous clinical entity. It is caused by deregulated red blood cell production where erythrocyte overproduction ... [more ▼]

Congenital erythrocytosis (CE), or congenital polycythemia, represents a rare and heterogeneous clinical entity. It is caused by deregulated red blood cell production where erythrocyte overproduction results in elevated hemoglobin and hematocrit levels. Primary congenital familial erythrocytosis is associated with low erythropoietin (Epo) levels and results from mutations in the Epo receptor gene (EPOR). Secondary CE arises from conditions causing tissue hypoxia and results in increased Epo production. These include hemoglobin variants with increased affinity for oxygen (HBB, HBA mutations), decreased production of 2,3-bisphosphoglycerate due to BPGM mutations, or mutations in the genes involved in the hypoxia sensing pathway (VHL, EPAS1, and EGLN1). Depending on the affected gene, CE can be inherited either in an autosomal dominant or recessive mode, with sporadic cases arising de novo. Despite recent important discoveries in the molecular pathogenesis of CE, the molecular causes remain to be identified in about 70% of the patients. With the objective of collecting all the published and unpublished cases of CE the COST action MPN&MPNr-Euronet developed a comprehensive Internet-based database focusing on the registration of clinical history, hematological, biochemical, and molecular data (http://www.erythrocytosis.org/). In addition, unreported mutations are also curated in the corresponding Leiden Open Variation Database. [less ▲]

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See detailGénétic causes : Awareness, who and how to screen
Beckers, Albert ULg

Scientific conference (2007, September 28)

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See detailGenetic causes of familial pituitary adenomas
Vandeva, Silvia; Zacharieva, S.; Daly, Adrian ULg et al

in Growth Hormone Related Diseases and Therapy - Contemporary Endocrinology (2011)

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See detailGenetic Causes of Pituitary Adenmas; Focus on the Roe of AIF Status in Multiple Tumor Types
Ansaneli Naves, L.; Ferreira Azevedo, M.; Faria de Castro, L. et al

in ENDO 2008: 90th Annual Meeting of the Endocrine Society - Abstract book (2008)

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See detailGenetic causes of pituitary diseases
Beckers, Albert ULg

Scientific conference (2010, October)

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See detailThe genetic causes of pituitary gigantism
Rostomyan, Liliya ULg; Lysy, P; Desfilles, C et al

in Abstract book - Symposium "Perspectives in Endocrinology" (2016, January)

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See detailThe genetic causes of pituitary gigantism
Rostomyan, Liliya ULg; Daly, Adrian ULg; PETROSSIANS, Patrick ULg et al

in Endocrine Abstracts (2015, May)

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See detailThe genetic causes of pituitary gigantism
Beckers, Albert ULg

Scientific conference (2015, May 19)

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See detailGenetic characteristics of rheumatic patients developing inflammatory skin lesions induced by biologic therapy.
Almirall, Miriam; Docampo Martinez, Elisa ULg; Estivill, Xavier et al

in Reumatologia clinica (2015), 11(2), 126-7

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See detailGenetic characterization of the Indian cattle breeds, Ongole and Deoni (Bos indicus), using microsatellite markers - a preliminary study.
Metta, Muralidhar ULg; Kanginakudru, Sriramana; Gudiseva, Narasimharao et al

in BMC Genetics (2004), 5

BACKGROUND: Molecular characterization of cattle breeds is important for the prevention of germplasm erosion by cross breeding. The Indian zebu cattle have their significant role in evolution of present ... [more ▼]

BACKGROUND: Molecular characterization of cattle breeds is important for the prevention of germplasm erosion by cross breeding. The Indian zebu cattle have their significant role in evolution of present day cattle breeds and development of some of the exotic breeds. Microsatellites are the best available molecular tools for characterization of cattle breeds. The present study was carried out to characterize two Indian cattle breeds, Ongole and Deoni, using microsatellite markers. RESULTS: Using 5 di- and 5 tri-nucleotide repeat loci, 17 Ongole and 13 Deoni unrelated individuals were studied. Of the ten loci, eight revealed polymorphism in both the breeds. The di-nucleotide repeat loci were found to be more polymorphic (100%) than tri-nucleotide repeat loci (60%). A total of 39 polymorphic alleles were obtained at 4.5 alleles per locus in Ongole and 4.1 in Deoni. The average expected heterozygosity was 0.46 (+/-0.1) and 0.50 (+/-0.1) in Ongole and Deoni breeds, respectively. The PIC values of the polymorphic loci ranged from 0.15 to 0.79 in Ongole and 0.13 to 0.80 in Deoni breeds. Six Ongole specific and three Deoni specific alleles were identified. The two breeds showed a moderate genetic relationship between themselves with a FST value of 0.117 (P = 0.01). CONCLUSIONS: This preliminary study shows that microsatellite markers are useful in distinguishing the two zebu breeds namely, Ongole and Deoni. Further studies of other zebu breeds using many microsatellite loci with larger sample sizes can reveal the genetic relationships of Indian breeds. [less ▲]

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See detailGenetic Characterization Of The Yeast Pichia Anomala (Strain K), An Antagonist Of Postharvest Diseases Of Apple
Friel, D.; Vandenbol, Micheline ULg; Jijakli, Mohamed ULg

in Journal of Applied Microbiology (2005), 98(3),

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See detailGenetic Control Of Alcohol Dehydrogenase, Malate Dehydrogenase, And Phosphoglucomutase Isozymes In Lima Bean (Phaseolus Lunatus L)
Bi, Iz.; Maquet, A.; Wathelet, Bernard ULg et al

in Plant Breeding (1997), 116(2),

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See detailGenetic Control of Flowering Time in Arabidopsis: an Interactive Database
Bouché, Frédéric ULg; Lobet, Guillaume ULg; Tocquin, Pierre ULg et al

Poster (2015, March 12)

The transition to flowering is an essential step of the plant life cycle that is tightly controlled by both endogenous and environmental cues. Its regulation is extremely complex and involves hundreds of ... [more ▼]

The transition to flowering is an essential step of the plant life cycle that is tightly controlled by both endogenous and environmental cues. Its regulation is extremely complex and involves hundreds of genes that are part of highly interconnected pathways. Our knowledge of the molecular mechanisms governing the floral induction of Arabidopsis thaliana increases quickly and a significant number of reviews are published every year on this topic. However, most of them focus on a single pathway without highlighting the interconnections existing between them. Furthermore, those reviews become rapidly outdated, since our comprehension of the genetic control of flowering time evolves continuously. Hence, we believe that the current landscape of flowering time research in Arabidopsis misses an exhaustive repository of the genes involved in the control of flowering and their regulatory pathways. Here, we present a new interactive resource built around a curated database of the flowering time genes that brings together multiple pieces of information such as their function, the flowering time phenotype of mutants and overexpressing lines, the related key publications, etc. Our website thus gives access to a curated and exhaustive list of the genes involved in the regulation of flowering time in Arabidopsis as well as the regulatory pathways controlling their expression. Because of its flexibility, the database is highly dynamic and will be periodically updated with the future breakthroughs in this domain. [less ▲]

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See detailGenetic control of flowering time in maize
Périlleux, Claire ULg; Colasanti, J.; Irish, E.

in Prioul, J.-L.; Thévenot, C.; Molnar, T. (Eds.) Advances in Maize (2011)

Flowering in temperate maize occurs largely autonomously after the plant has accumulated a given amount of vegetative growth. Mutants affected in leaf initiation rate or in phyllotaxy however indicate ... [more ▼]

Flowering in temperate maize occurs largely autonomously after the plant has accumulated a given amount of vegetative growth. Mutants affected in leaf initiation rate or in phyllotaxy however indicate that total leaf number can vary independently of flowering time, e.g. in relation with cytokinin signalling. By contrast, heterochronic mutants in which juvenile-to-adult and/or adult vegetative-to-reproductive phase changes are abnormal aided in the identification of key regulators of endogenous developmental timing in maize. These regulators include gibberellins and micro-RNAs, such as miR156 and miR172, which have been identified more recently. Progress towards unravelling the maize flowering time genetic network is also emerging from comparison with other species. Although maize expansion beyond domestication centres implied reduction in photoperiod sensitivity, molecular genetic studies indicated conservation of genes which, in Arabidopsis or rice, act in a signalling cascade whereby flowering is controlled by photoperiod. Several gene sequences are now available to assess functionality of such a pathway in maize and evaluate its contribution to flowering time control. [less ▲]

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See detailGenetic control of isozymes in the primary gene pool Phaseolus lunatus L.
Bi, Irié Zoro; Maquet, Alain; Wathelet, Bernard ULg et al

in Biotechnologie, Agronomie, Société et Environnement = Biotechnology, Agronomy, Society and Environment [=BASE] (1999)

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See detailGenetic correlations among body condition score, yield and fertility in multiparous cows using random regression models
Bastin, Catherine ULg; Gillon, Alain ULg; Massart, Xavier et al

in Proceedings of the 9th World Congress on Genetics Applied to Livestock Production (2010, August)

Genetic correlations between body condition score (BCS) in lactation 1 to 3 and four economically important traits (days open, 305-days milk, fat, and protein yields recorded in the first 3 lactations ... [more ▼]

Genetic correlations between body condition score (BCS) in lactation 1 to 3 and four economically important traits (days open, 305-days milk, fat, and protein yields recorded in the first 3 lactations) were estimated on about 12,500 Walloon Holstein cows using 4-trait random regression models. Results indicated moderate favorable genetic correlations between BCS and days open (from -0.46 to -0.62) and suggested the use of BCS for indirect selection on fertility. However, unfavorable genetic correlations between BCS and yields (from -0.16 to -0.71) indicated that selection on BCS would have deleterious effects on milk, fat, and protein yields, especially in lactation greater than 1. [less ▲]

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See detailGenetic correlations between methane production and milk fatty acid contents of Walloon Holstein cattle throughout the lactation
Vanrobays, Marie-Laure ULg; Vandenplas, Jérémie ULg; Bastin, Catherine ULg et al

Poster (2015, April 16)

Methane (CH4) from ruminal fermentation is the major greenhouse gas produced by dairy cattle which contributes largely to climate change. Production of CH4 also represents losses of gross energy intake ... [more ▼]

Methane (CH4) from ruminal fermentation is the major greenhouse gas produced by dairy cattle which contributes largely to climate change. Production of CH4 also represents losses of gross energy intake. Therefore, there is a growing interest in mitigating these emissions. Acetate and butyrate have common bio-chemical pathways with CH4. Because some milk fatty acids (FA) arise from acetate and butyrate, milk FA are often considered as potential predictors of CH4. However, relationships between these traits remain unclear. Moreover, the evolution of the phenotypic and genetic correlations of CH4 and milk FA across days in milk (DIM) has not been evaluated. The main goal of this study was to estimate genetic correlations between CH4 and milk FA contents throughout the lactation. Calibration equations predicting daily CH4 production (g/d) and milk FA contents (g/100 dL of milk) from milk mid-infrared (MIR) spectra were applied on MIR spectra related to Walloon milk recording. Data included 243,260 test-day records (between 5 and 365 DIM) from 33,850 first-parity Holstein cows collected in 630 herds. Pedigree included 109,975 animals. Bivariate (i.e., CH4 production and one of the FA traits) random regression test-day models were used to estimate genetic parameters of CH4 production and 7 groups of FA contents in milk. Saturated (SFA), short-chain (SCFA), and medium-chain FA (MCFA) showed positive averaged daily genetic correlations with CH4 production (from 0.25 to 0.29). Throughout the lactation, genetic correlations between SCFA and CH4 were low in the beginning of the lactation (0.11 at 5 DIM) and higher at the end of the lactation (0.54 at 365 DIM). Regarding SFA and MCFA, genetic correlations between these groups of FA and CH4 were more stable during the lactation with a slight increase (from 0.23 to 0.31 for SFA and from 0.23 to 0.29 for MCFA, at 5 and 365 DIM respectively). Furthermore, averaged daily genetic correlations between CH4 production and monounsaturated (MUFA), polyunsaturated (PUFA), unsaturated (UFA), and long-chain FA (LCFA) were low (from 0.00 to 0.15). However, these genetic correlations varied across DIM. Genetic correlations between CH4 and MUFA, PUFA, UFA, and LCFA were negative in early lactation (from -0.24 to -0.34 at 5 DIM) and increased afterward to become positive from 15 weeks till the end of the lactation (from 0.14 to 0.25 at 365 DIM). Finally, these results indicate that genetic and, therefore, phenotypic correlations between CH4 production and milk FA vary following lactation stage of the cow, a fact still often ignored when trying to predict CH4 production from FA composition. [less ▲]

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See detailGenetic correlations of days open with production traits and contents in milk of major fatty acids predicted by mid-infrared spectrometry.
Bastin, Catherine ULg; Berry, D. P.; Soyeurt, Hélène ULg et al

in Journal of Dairy Science (2012), 95(10), 6113-21

The objective of this study was to estimate the genetic relationships between days open (DO) and both milk production traits and fatty acid (FA) content in milk predicted by mid-infrared spectrometry. The ... [more ▼]

The objective of this study was to estimate the genetic relationships between days open (DO) and both milk production traits and fatty acid (FA) content in milk predicted by mid-infrared spectrometry. The edited data set included 143,332 FA and production test-day records and 29,792 DO records from 29,792 cows in 1,170 herds. (Co)variances were estimated using a series of 2-trait models that included a random regression for milk production and FA traits. In contrast to the genetic correlations with fat content, those between DO and FA content in milk changed considerably over the lactation. The genetic correlations with DO for unsaturated FA, monounsaturated FA, long-chain FA, C18:0, and C18:1 cis-9 were positive in early lactation but negative after 100 d in milk. For the other FA, genetic correlations with DO were negative across the whole lactation. At 5 d in milk, the genetic correlation between DO and C18:1 cis-9 was 0.39, whereas the genetic correlations between DO and C6:0 to C16:0 FA ranged from -0.37 to -0.23. These results substantiated the known relationship between fertility and energy balance status, explained by the release of long-chain FA in early lactation, from the mobilization of body fat reserves, and the consequent inhibition of de novo FA synthesis in the mammary gland. At 200 d in milk, the genetic correlations between DO and FA content ranged from -0.38 for C18:1 cis-9 to -0.03 for C6:0. This research indicates an opportunity to use FA content in milk as an indicator trait to supplement the prediction of genetic merit for fertility. [less ▲]

Detailed reference viewed: 71 (19 ULg)