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description Publicationkeyboard_double_arrow_right Article 1982Springer Science and Business Media LLC B.L. Salle; Louis David; Francis H. Glorieux; Edgard Delvin; Jacques Sentere; Hubert Renaud;pmid: 7070879
For five days, three groups of six premature infants each were fed human milk and given a daily dosage of one of the following: vitamin D3 (30 micrograms), 25-OH D3 (10 micrograms) and 1,25-OH D3 (0.5 micrograms). The infants in the groups were matched for gestational age and birthweight. Administration of 25-OH De or 1,25-(OH)2 D3 did not significantly modify the course of early neonatal hypocalcemia as compared with infants receiving vitamin C3. Mean plasma Ca +/- S. D. (mg/100 ml) decreased to nadir values at 48 hr (D3: 5.7 +/-1.2; 25 OH D3: 6.8 +/- 0.9; 1.25-(OH)2 D3: 6.7 +/-1.1). A progressive increase toward normal values was seen at 120 and 168 hr in the three groups. Mean plasma immunoreactive parathyroid hormone +/- S.D. (microliters Eq/ml) followed an opposite pattern with peak values at 48 hr (D3: 231 +/- 137; 25-OH D3: 281 +/- 138; 1,25-(OH)2 D3:211 +/- 149). Mean plasma +/- S.D. 25-OH values (ng/ml) were low at 1.2 hr (8.7 +/- 4.8) n: 16) and increased significantly after 7 days of D3 (18.2 +/- 4.2 P less than 0.001) and 25-OH D3 administration (46 +/- 10.3 P less than 0.001)/Mean plasma iCT +/- S.D. (pg/ml) reached peak values at 24 hr (D3: 457 +/- 186; 25-OH D3: 415 +/- 121; 1.25-(OH)2 D3: 443 +/- 183). These data suggest that the various forms of vitamin D are well absorbed in preterm infants and that administration of vitamin D metabolites during the first days of life is not warranted for they prophylaxis of early neonatal hypocalcemia.
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You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1203/00006450-198201001-00015&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu50 citations 50 popularity Average influence Top 10% impulse Top 10% Powered by BIP!
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You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1203/00006450-198201001-00015&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019Armenian Green Publishing Co. Forough Mahdavinezhad; Parinaz Kazemi; Parisa Fathalizadeh; Fatemeh Sarmadi; Leila Sotoodeh; Ehsan Hashemi; Hadi Hajarian; Mojtaba Dashtizad;Background: While mammalian embryos can adapt to their environments, their sensitivity overshadows their adaptability in suboptimal in vitro conditions. Therefore, the environment in which the gametes are fertilized or to which the embryo is exposed can greatly affect the quality of the embryo and consequently its implantation potential. Objectives: Since providing an optimal culture condition needs a deep understanding of the environmental effects, and regarding the fact that normal morphology fails to be a reliable indicator of natural embryo development, the current study aimed at comparing in vivo- and in vitro-derived blastocysts at the molecular level. Materials and Methods: In vivo and in vitro mouse blastocysts were obtained by flushing the uterine horns and in vitro fertilization/culture, respectively. Normal blastocysts of both groups were evaluated in terms of hatching rate and expression of three lineage-differentiation-, apoptosis-, and implantation-related genes. Results: The hatching rate was lower in In vitro fertilization (IVF)-produced blastocysts in comparison with that of the in vivo counterparts. More importantly, the study results indicated significant changes in the expression levels of eight out of ten selected genes, especially Mmp-9 (about -10.7-fold). The expression of Mmp-9 in trophoblast cells is required for successful implantation and trophoblast invasion. Conclusions: The current study, in addition to confirming that the altered gene expression pattern of in vitro-produced embryos resulted in normal morphology, provided a possible reason for lower implantation rate of in vitro-produced blastocysts regarding the Mmp-9 expression.
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You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu11 citations 11 popularity Top 10% influence Average impulse Top 10% Powered by BIP!
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2003Hindawi Limited Sahar Sibani; Daniel Leclerc; Ilan S. Weisberg; Erin K. O'Ferrall; David Watkins; Carmen Artigas; David S. Rosenblatt; Rima Rozen;doi: 10.1002/humu.10193
pmid: 12673793
Methylenetetrahydrofolate reductase (MTHFR) synthesizes 5-methyltetrahydrofolate, a major methyl donor for homocysteine remethylation to methionine. Severe MTHFR deficiency results in marked hyperhomocysteinemia and homocystinuria. Patients display developmental delay and a variety of neurological and vascular symptoms. Cloning of the human cDNA and gene has enabled the identification of 29 rare mutations in homocystinuric patients and two common variants [677C>T (A222V) and 1298A>C (E429A)] with mild enzymatic deficiency. Homozygosity for 677C>T or combined heterozygosity for both polymorphisms is associated with mild hyperhomocysteinemia. In this communication, we describe four novel mutations in patients with homocystinuria: two missense mutations (471C>G, I153M; 1025T>C, M338T), a nonsense mutation (1274G>A, W421X), and a 2-bp deletion (1553delAG). We expressed the 1025T>C mutation as well as two previously reported amino acid substitutions [983A>G (N324S) and 1027T>G (W339G)] and observed decreased enzyme activity at 10%, 36%, and 21% of control levels, respectively, with little or no effect on affinity for 5-methyltetrahydrofolate. One of these mutations, 983A>G (N324S), showed flavin adenine dinucleotide (FAD) responsiveness in vitro. Expression of these mutations in cis with the 677C>T polymorphism, as observed in the patients, resulted in an additional 50% decrease in enzyme activity. This report brings the total to 33 severe mutations identified in patients with severe MTHFR deficiency.
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You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1002/humu.10193&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu55 citations 55 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!
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You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1002/humu.10193&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 1998Cambridge University Press (CUP) Authors: Angelo Tremblay;Angelo Tremblay;pmid: 9875063
British Journal Of N... arrow_drop_down British Journal Of NutritionArticle . 1998License: https://www.cambridge.org/core/termsData sources: Crossrefadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1017/s000711459800124x&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu75 citations 75 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!
more_vert British Journal Of N... arrow_drop_down British Journal Of NutritionArticle . 1998License: https://www.cambridge.org/core/termsData sources: Crossrefadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1017/s000711459800124x&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 1996Oxford University Press (OUP) Authors: Marcus Flather; Charanjit S. Rihal;Marcus Flather; Charanjit S. Rihal;pmid: 8732377
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You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1093/oxfordjournals.eurheartj.a014828&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu27 citations 27 popularity Average influence Top 10% impulse Top 10% Powered by BIP!
more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1093/oxfordjournals.eurheartj.a014828&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2013American Psychological Association (APA) Authors: Ueli Kramer; Yves de Roten; J. Christopher Perry; Jean-Nicolas Despland;Ueli Kramer; Yves de Roten; J. Christopher Perry; Jean-Nicolas Despland;doi: 10.1037/a0029463
Defense mechanism is a key concept in the psychoanalytic psychopathology of borderline personality disorder (BPD). Theoretical and empirical elaborations on this question are briefly reviewed and discussed with respect to process assessment of defense mechanisms; we put forward observer-rater methodology as an accurate means of assessing unconscious in-session processes. A sample of 25 patients presenting with BPD were interviewed, as were subjects from a matched control group without psychiatric symptoms (n = 25), using a psychodynamic interview paradigm. These interviews were transcribed and rated using the Defense Mechanisms Rating Scales. The results indicate that, compared to controls, patients with BPD used higher percentages of a action, borderline, disavowal, narcissistic, and hysteric defenses, along with lower levels of mature and obsessional defenses. Overall defensive functioning was significantly lower in the patients with BPD, compared to controls. Narcissistic defenses were related with symptom level. These results are discussed in light of previous studies on defensive functioning of BPD and the literature on psychoanalytic psychopathology. These results have several important clinical implications.
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You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1037/a0029463&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu21 citations 21 popularity Top 10% influence Average impulse Average Powered by BIP!
more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1037/a0029463&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 1995Wiley William D. Foulkes; Jean-Sébastien Brunet; Luis P. Kowalski; Steven A. Narod; Eduardo L. Franco;pmid: 8847131
AbstractTo determine the role of familial factors in head and neck cancer, we analysed data from a hospital‐based case‐control study of squamous cell carcinoma of the head and neck in Brazil. There were 754 cases of squamous cell carcinoma of the head and neck (SCCHN) and 1,507 age‐ and gender‐matched hospital‐based controls with non‐malignant diseases. Subjects provided information on the occurrence of cancer in first‐degree relatives, as well as about other risk factors, including tobacco and alcohol consumption. Relative risks (RRs) were estimated for developing mouth, pharynx and larynx cancer when cancers in relatives were observed. RRs were adjusted for age, sex, city of admission and alcohol and tobacco consumption. The RR for developing SCCHN if a first‐degree relative had cancer at any site was significantly elevated at 1.97. The RR was 3.65 (95% Cl: 1.97–6.76) if the relative had head and neck cancer. Significantly elevated risks for developing head and neck cancer were associated with siblings with head and neck cancer (RR = 8.57) and, to a lesser extent, with fathers with head and neck cancer (RR = 2.49). There was no significantly increased risk associated with mothers with head and neck cancer, but these tumours were rare among mothers. Our data show that familial, possibly genetic, factors are important in the aetiology of head and neck cancer. © 1995 Wiley‐Liss, Inc.
International Journa... arrow_drop_down add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu104 citations 104 popularity Top 10% influence Top 10% impulse Average Powered by BIP!
more_vert International Journa... arrow_drop_down add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1002/ijc.2910630603&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Other literature type , Article 2003 CanadaConsortium Erudit Authors: Nicolas Martin-Granel;Nicolas Martin-Granel;doi: 10.7202/1041668ar
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You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.7202/1041668ar&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu0 citations 0 popularity Average influence Average impulse Average Powered by BIP!
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You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.7202/1041668ar&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2012Ovid Technologies (Wolters Kluwer Health) Authors: Rachel E. Roditi; Benjamin T. Crane;Rachel E. Roditi; Benjamin T. Crane;pmid: 21389899
Intracranial cysts are common findings on both computed tomography (CT) and magnetic resonance imaging (MRI) and represent a wide range of diagnoses. A cyst can be defined as a spherical growth with an epithelial lining, forming a cavity that is filled with fluid, cellular products, or debris. Histo
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You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu2 citations 2 popularity Average influence Average impulse Average Powered by BIP!
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You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1097/mao.0b013e3182138a03&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Review 2012 EnglishHindawi Publishing Corporation Authors: Ijpma, Gijs; Matusovsky, Oleg; Lauzon, Anne-Marie;Ijpma, Gijs; Matusovsky, Oleg; Lauzon, Anne-Marie;It remains unclear whether airway smooth muscle (ASM) mechanics is altered in asthma. While efforts have originally focussed on contractile force, some evidence points to an increased velocity of shortening. A greater rate of airway renarrowing after a deep inspiration has been reported in asthmatics compared to controls, which could result from a shortening velocity increase. In addition, we have recently shown in rats that increased shortening velocity correlates with increased muscle shortening, without increasing muscle force. Nonetheless, establishing whether or not asthmatic ASM shortens faster than that of normal subjects remains problematic. Endobronchial biopsies provide excellent tissue samples because the patients are well characterized, but the size of the samples allows only cell level experiments. Whole human lungs from transplant programs suffer primarily from poor patient characterization, leading to high variability. ASM from several animal models of asthma has shown increased shortening velocity, but it is unclear whether this is representative of human asthma. Several candidates have been suggested as responsible for increased shortening velocity in asthma, such as alterations in contractile protein expression or changes in the contractile apparatus structure. There is no doubt that more remains to be learned about the role of shortening velocity in asthma.
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For further information contact us at helpdesk@openaire.eu0 citations 0 popularity Average influence Average impulse Average Powered by BIP!
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description Publicationkeyboard_double_arrow_right Article 1982Springer Science and Business Media LLC B.L. Salle; Louis David; Francis H. Glorieux; Edgard Delvin; Jacques Sentere; Hubert Renaud;pmid: 7070879
For five days, three groups of six premature infants each were fed human milk and given a daily dosage of one of the following: vitamin D3 (30 micrograms), 25-OH D3 (10 micrograms) and 1,25-OH D3 (0.5 micrograms). The infants in the groups were matched for gestational age and birthweight. Administration of 25-OH De or 1,25-(OH)2 D3 did not significantly modify the course of early neonatal hypocalcemia as compared with infants receiving vitamin C3. Mean plasma Ca +/- S. D. (mg/100 ml) decreased to nadir values at 48 hr (D3: 5.7 +/-1.2; 25 OH D3: 6.8 +/- 0.9; 1.25-(OH)2 D3: 6.7 +/-1.1). A progressive increase toward normal values was seen at 120 and 168 hr in the three groups. Mean plasma immunoreactive parathyroid hormone +/- S.D. (microliters Eq/ml) followed an opposite pattern with peak values at 48 hr (D3: 231 +/- 137; 25-OH D3: 281 +/- 138; 1,25-(OH)2 D3:211 +/- 149). Mean plasma +/- S.D. 25-OH values (ng/ml) were low at 1.2 hr (8.7 +/- 4.8) n: 16) and increased significantly after 7 days of D3 (18.2 +/- 4.2 P less than 0.001) and 25-OH D3 administration (46 +/- 10.3 P less than 0.001)/Mean plasma iCT +/- S.D. (pg/ml) reached peak values at 24 hr (D3: 457 +/- 186; 25-OH D3: 415 +/- 121; 1.25-(OH)2 D3: 443 +/- 183). These data suggest that the various forms of vitamin D are well absorbed in preterm infants and that administration of vitamin D metabolites during the first days of life is not warranted for they prophylaxis of early neonatal hypocalcemia.
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You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1203/00006450-198201001-00015&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu50 citations 50 popularity Average influence Top 10% impulse Top 10% Powered by BIP!
more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1203/00006450-198201001-00015&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019Armenian Green Publishing Co. Forough Mahdavinezhad; Parinaz Kazemi; Parisa Fathalizadeh; Fatemeh Sarmadi; Leila Sotoodeh; Ehsan Hashemi; Hadi Hajarian; Mojtaba Dashtizad;Background: While mammalian embryos can adapt to their environments, their sensitivity overshadows their adaptability in suboptimal in vitro conditions. Therefore, the environment in which the gametes are fertilized or to which the embryo is exposed can greatly affect the quality of the embryo and consequently its implantation potential. Objectives: Since providing an optimal culture condition needs a deep understanding of the environmental effects, and regarding the fact that normal morphology fails to be a reliable indicator of natural embryo development, the current study aimed at comparing in vivo- and in vitro-derived blastocysts at the molecular level. Materials and Methods: In vivo and in vitro mouse blastocysts were obtained by flushing the uterine horns and in vitro fertilization/culture, respectively. Normal blastocysts of both groups were evaluated in terms of hatching rate and expression of three lineage-differentiation-, apoptosis-, and implantation-related genes. Results: The hatching rate was lower in In vitro fertilization (IVF)-produced blastocysts in comparison with that of the in vivo counterparts. More importantly, the study results indicated significant changes in the expression levels of eight out of ten selected genes, especially Mmp-9 (about -10.7-fold). The expression of Mmp-9 in trophoblast cells is required for successful implantation and trophoblast invasion. Conclusions: The current study, in addition to confirming that the altered gene expression pattern of in vitro-produced embryos resulted in normal morphology, provided a possible reason for lower implantation rate of in vitro-produced blastocysts regarding the Mmp-9 expression.
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You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.21859/ijb.2157&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu11 citations 11 popularity Top 10% influence Average impulse Top 10% Powered by BIP!
more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.21859/ijb.2157&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2003Hindawi Limited Sahar Sibani; Daniel Leclerc; Ilan S. Weisberg; Erin K. O'Ferrall; David Watkins; Carmen Artigas; David S. Rosenblatt; Rima Rozen;doi: 10.1002/humu.10193
pmid: 12673793
Methylenetetrahydrofolate reductase (MTHFR) synthesizes 5-methyltetrahydrofolate, a major methyl donor for homocysteine remethylation to methionine. Severe MTHFR deficiency results in marked hyperhomocysteinemia and homocystinuria. Patients display developmental delay and a variety of neurological and vascular symptoms. Cloning of the human cDNA and gene has enabled the identification of 29 rare mutations in homocystinuric patients and two common variants [677C>T (A222V) and 1298A>C (E429A)] with mild enzymatic deficiency. Homozygosity for 677C>T or combined heterozygosity for both polymorphisms is associated with mild hyperhomocysteinemia. In this communication, we describe four novel mutations in patients with homocystinuria: two missense mutations (471C>G, I153M; 1025T>C, M338T), a nonsense mutation (1274G>A, W421X), and a 2-bp deletion (1553delAG). We expressed the 1025T>C mutation as well as two previously reported amino acid substitutions [983A>G (N324S) and 1027T>G (W339G)] and observed decreased enzyme activity at 10%, 36%, and 21% of control levels, respectively, with little or no effect on affinity for 5-methyltetrahydrofolate. One of these mutations, 983A>G (N324S), showed flavin adenine dinucleotide (FAD) responsiveness in vitro. Expression of these mutations in cis with the 677C>T polymorphism, as observed in the patients, resulted in an additional 50% decrease in enzyme activity. This report brings the total to 33 severe mutations identified in patients with severe MTHFR deficiency.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1002/humu.10193&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu55 citations 55 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!
more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1002/humu.10193&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 1998Cambridge University Press (CUP) Authors: Angelo Tremblay;Angelo Tremblay;pmid: 9875063
British Journal Of N... arrow_drop_down British Journal Of NutritionArticle . 1998License: https://www.cambridge.org/core/termsData sources: Crossrefadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1017/s000711459800124x&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu75 citations 75 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!
more_vert British Journal Of N... arrow_drop_down British Journal Of NutritionArticle . 1998License: https://www.cambridge.org/core/termsData sources: Crossrefadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1017/s000711459800124x&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 1996Oxford University Press (OUP) Authors: Marcus Flather; Charanjit S. Rihal;Marcus Flather; Charanjit S. Rihal;pmid: 8732377