scholarly journals Genome streamlining via complete loss of introns has occurred multiple times in lichenized fungal mitochondria

2019 ◽  
Vol 9 (7) ◽  
pp. 4245-4263 ◽  
Author(s):  
Cloe S. Pogoda ◽  
Kyle G. Keepers ◽  
Arif Y. Nadiadi ◽  
Dustin W. Bailey ◽  
James C. Lendemer ◽  
...  
Keyword(s):  
Complete Loss ◽  
Loss Of Introns

Investigating the functional link between TMEM165 and SPCA1

2019 ◽  
Vol 476 (21) ◽  
pp. 3281-3293 ◽  
Author(s):  
Elodie Lebredonchel ◽  
Marine Houdou ◽  
Hans-Heinrich Hoffmann ◽  
Kateryna Kondratska ◽  
Marie-Ange Krzewinski ◽  
...  
Keyword(s):  
Subcellular Localization ◽  
Complete Loss ◽  
Protein Family ◽  
Uncharacterized Protein ◽  
Functional Link ◽  
P Type

TMEM165 was highlighted in 2012 as the first member of the Uncharacterized Protein Family 0016 (UPF0016) related to human glycosylation diseases. Defects in TMEM165 are associated with strong Golgi glycosylation abnormalities. Our previous work has shown that TMEM165 rapidly degrades with supraphysiological manganese supplementation. In this paper, we establish a functional link between TMEM165 and SPCA1, the Golgi Ca2+/Mn2+ P-type ATPase pump. A nearly complete loss of TMEM165 was observed in SPCA1-deficient Hap1 cells. We demonstrate that TMEM165 was constitutively degraded in lysosomes in the absence of SPCA1. Complementation studies showed that TMEM165 abundance was directly dependent on SPCA1's function and more specifically its capacity to pump Mn2+ from the cytosol into the Golgi lumen. Among SPCA1 mutants that differentially impair Mn2+ and Ca2+ transport, only the Q747A mutant that favors Mn2+ pumping rescues the abundance and Golgi subcellular localization of TMEM165. Interestingly, the overexpression of SERCA2b also rescues the expression of TMEM165. Finally, this paper highlights that TMEM165 expression is linked to the function of SPCA1.

Type B Interrupted Aorta in an Adult Patient

2014 ◽  
Vol 17 (2) ◽  
pp. 80
Author(s):  
Ahmet Ozkara ◽  
Mehmet Ezelsoy ◽  
Levent Onat ◽  
Ilhan Sanisoglu
Keyword(s):  
Cardiopulmonary Bypass ◽  
Aortic Arch ◽  
Collateral Circulation ◽  
Neonatal Period ◽  
Interrupted Aortic Arch ◽  
Complete Loss ◽  
Posterolateral Thoracotomy ◽  
Type B ◽  
Case Presentation ◽  
Descending Aorta

<p><b>Introduction:</b> Interrupted aortic arch is a rare congenital malformation characterized by a complete loss of luminal continuity between the ascending and descending aorta. It is often diagnosed during the neonatal period.</p><p><b>Case presentation:</b> We presented a 51-year-old male patient with interrupted aortic arch type B who was treated successfully with posterolateral thoracotomy without using cardiopulmonary bypass.</p><p><b>Conclusion:</b> The prognosis for interrupted aortic arch depends on the associated congenital anomalies, but the outcome is usually very poor unless there is surgical treatment. Survival into adulthood depends on the development of collateral circulation.</p>

Chronic Ischemic Monomelic Neuropathy after Arteriovenous Fistula Creation: A Unique Presentation of Vascular Steal

2020 ◽  
Vol 3 (2) ◽  
pp. 147-150
Author(s):  
Kaczynski RE ◽  
Asaad Y ◽  
Valentin-Capeles N ◽  
Battista J
Keyword(s):  
Arteriovenous Fistula ◽  
Complete Loss ◽  
Dialysis Access ◽  
Loss Of Function ◽  
Access Site ◽  
Surgical Ligation ◽  
Arteriovenous Access ◽  
Vascular Steal ◽  
Steal Syndrome

We discuss a case of a 58 year old male who presented for left upper extremity steal syndrome including ischemic monomelic neuropathy (IMN) 1.5 months after arteriovenous fistula creation. He presented after three surgical attempts to salvage his fistula with rest pain, complete loss of function with contracture of the 4th and 5th digits, and loss of sensation in the ulnar distribution for more than three weeks. At our institution, he underwent surgical ligation of the distal fistula and creation of a new fistula proximally, resulting in complete resolution of his vascular steal symptoms almost immediately despite the chronicity prior to surgical presentation. Our patient provides a unique perspective regarding dialysis access salvage versus patient quality of life. The patients’ functional status and pain levels should take precedence over salvage of an arteriovenous access site, and early ligation of the access should be completed prior to chronic IMN development. However, if a patient presents late along the IMN course, we recommend strong consideration of access ligation in order to attempt to regain the full neurovascular function of the extremity as we experienced in our patient.

scholarly journals Prevalence and Photobiology of Photosynthetic Dinoflagellate Endosymbionts in the Nudibranch Berghia stephanieae

Animals ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 2200
Author(s):  
Ruben X. G. Silva ◽  
Paulo Cartaxana ◽  
Ricardo Calado
Keyword(s):  
Food Deprivation ◽  
Photosynthetic Efficiency ◽  
Rapid Decrease ◽  
Complete Loss ◽  
Symbiotic Association ◽  
Non Invasive ◽  
Sea Slugs ◽  
Non Destructive ◽  
Over Time

Berghia stephanieae is a stenophagous sea slug that preys upon glass anemones, such as Exaiptasia diaphana. Glass anemones host photosynthetic dinoflagellate endosymbionts that sea slugs ingest when consuming E. diaphana. However, the prevalence of these photosynthetic dinoflagellate endosymbionts in sea slugs appears to be short-lived, particularly if B.stephanieae is deprived of prey that host these microalgae (e.g., during bleaching events impacting glass anemones). In the present study, we investigated this scenario, along with food deprivation, and validated the use of a non-invasive and non-destructive approach employing chlorophyll fluorescence as a proxy to monitor the persistence of the association between sea slugs and endosymbiotic photosynthetic dinoflagellates acquired through the consumption of glass anemones. Berghia stephanieae deprived of a trophic source hosting photosynthetic dinoflagellate endosymbionts (e.g., through food deprivation or by feeding on bleached E. diaphana) showed a rapid decrease in minimum fluorescence (Fo) and photosynthetic efficiency (Fv/Fm) when compared to sea slugs fed with symbiotic anemones. A complete loss of endosymbionts was observed within 8 days, confirming that no true symbiotic association was established. The present work opens a new window of opportunity to rapidly monitor in vivo and over time the prevalence of associations between sea slugs and photosynthetic dinoflagellate endosymbionts, particularly during bleaching events that prevent sea slugs from incorporating new microalgae through trophic interactions.

scholarly journals Oocyte Ageing in Zebrafish Danio rerio (Hamilton, 1822) and Its Consequence on the Viability and Ploidy Anomalies in the Progeny

Animals ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 912
Author(s):  
Swapnil Gorakh Waghmare ◽  
Azadeh Mohagheghi Samarin ◽  
Roman Franěk ◽  
Martin Pšenička ◽  
Tomáš Policar ◽  
...  
Keyword(s):  
Danio Rerio ◽  
Egg Quality ◽  
Complete Loss ◽  
Egg Viability ◽  
Embryo Survival ◽  
Hatching Rates

Fish egg quality can be markedly influenced by the oocyte age after ovulation. In this study, we examined the duration of oocyte ageing in the zebrafish (Danio rerio) and whether prolonged ageing is associated with the incidence of ploidy anomalies in the resulting embryos. Oocytes were incubated in vitro for 6 h post-stripping (HPS) at 26 °C and fertilized at 2-h intervals. Meanwhile, for eggs fertilized immediately after stripping, the fertilization, embryo survival, and hatching rates started at ~80%; these rates decreased to 39%, 24%, and 16%, respectively, for oocytes that had been stored for 4 h (p ˂ 0.05), and there was an almost complete loss of egg viability at 6 HPS. Furthermore, almost 90% of the embryos derived from 6-h aged oocytes died prior to hatching, and all larvae originating from 4- and 6-h aged oocytes showed malformations. The proportion of ploidy abnormal embryos was significantly greater at 4 HPS (18.5%) than at either 0 or 2 HPS (4.7% and 8.8%, respectively). The results revealed that zebrafish oocytes retained their fertilization potential for up to 2 h after stripping at 26 °C and indicated the contribution of post-ovulatory oocyte ageing in the occurrence of ploidy anomalies in the resulting embryos.

scholarly journals Simulation of Partial and Complete Loss of Flow Accidents for GPWR using ATHLET Code

2021 ◽  
pp. 100097
Author(s):  
Salwa H. Abdel-Latif ◽  
Magy M. Kandil ◽  
Ahemd M. Refaey ◽  
Sayed A. Elnaggar
Keyword(s):  
Complete Loss

scholarly journals A Study of Prediction Model Improvement for Air-Oxidation Breakaway in a Postulated Spent Nuclear Fuel Pool Complete Loss of Coolant Accident

2021 ◽  
Vol 13 (3) ◽  
pp. 1442
Author(s):  
Sanggil Park ◽  
Jaeyoung Lee ◽  
Min Bum Park
Keyword(s):  
Kinetic Model ◽  
Nuclear Fuel ◽  
Spent Nuclear Fuel ◽  
Complete Loss ◽  
Air Oxidation ◽  
Loss Of Coolant Accident ◽  
Spent Nuclear Fuel Pool ◽  
Loss Of Coolant ◽  
Model Derivation ◽  
Model Improvement

The temperature of zirconium alloy cladding on the postulated spent nuclear fuel pool complete loss of coolant accident is abruptly increased at a certain time and the cladding is almost fully oxidized to weak ZrO2 in the air. This abrupt temperature escalation phenomenon induced by the air-oxidation breakaway is called a zirconium fire. Although an air-oxidation breakaway kinetic model correlated between time and temperature has been implemented in the MELCOR code, it is likely to bring about unexpected large errors because of many limitations of model derivation. This study suggests an improved time–temperature correlated kinetic model using the Johnson–Mehl equation. It is based on that the air-oxidation breakaway is initiated by the phase transformation from the tetragonal to monoclinic ZrO2 at the oxide–metal interface in the cladding. This new model equation is also evaluated with the Zry-4 air-oxidation literature data. This equation resulted in the almost similar air-oxidation breakaway timing to the actual experimental data at 800 °C. However, at 1000 °C, it showed an error of about 8 min. This could be inferred from the influence of the ZrN phase change due to the nitrogen existing in air.

scholarly journals Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Joseph J. Rossi ◽  
Jill A. Rosenfeld ◽  
Katie M. Chan ◽  
Haley Streff ◽  
Victoria Nankivell ◽  
...  
Keyword(s):  
Neurodevelopmental Disorders ◽  
Protein Function ◽  
Transcriptional Activity ◽  
Neurodevelopmental Disorder ◽  
Complete Loss ◽  
Loss Of Function ◽  
Targeted Disruption ◽  
Clinical Exome Sequencing ◽  
Partner Protein ◽  
The Brain

AbstractAberrations in the excitatory/inhibitory balance within the brain have been associated with both intellectual disability (ID) and schizophrenia (SZ). The bHLH-PAS transcription factors NPAS3 and NPAS4 have been implicated in controlling the excitatory/inhibitory balance, and targeted disruption of either gene in mice results in a phenotype resembling ID and SZ. However, there are few human variants in NPAS3 and none in NPAS4 that have been associated with schizophrenia or neurodevelopmental disorders. From a clinical exome sequencing database we identified three NPAS3 variants and four NPAS4 variants that could potentially disrupt protein function in individuals with either developmental delay or ID. The transcriptional activity of the variants when partnered with either ARNT or ARNT2 was assessed by reporter gene activity and it was found that variants which truncated the NPAS3/4 protein resulted in a complete loss of transcriptional activity. The ability of loss-of-function variants to heterodimerise with neuronally enriched partner protein ARNT2 was then determined by co-immunoprecipitation experiments. It was determined that the mechanism for the observed loss of function was the inability of the truncated NPAS3/4 protein to heterodimerise with ARNT2. This further establishes NPAS3 and NPAS4 as candidate neurodevelopmental disorder genes.

scholarly journals Structure-Activity Relationships of Sandalwood Odorants: Synthesis of a New Campholene Derivative

2010 ◽  
Vol 5 (9) ◽  
pp. 1934578X1000500
Author(s):  
Iris Stappen ◽  
Joris Höfinghoff ◽  
Gerhard Buchbauer ◽  
Peter Wolschann
Keyword(s):  
Structural Changes ◽  
Great Influence ◽  
Complete Loss ◽  
Side Chain ◽  
Side Chains ◽  
Quaternary Carbon ◽  
Structural Modifications ◽  
Structure Activity ◽  
Highly Sensitive ◽  
Sandalwood Odorants

Structural modifications of natural (-)-( Z)-β-santalol have shown that the sandalwood odor impression is highly sensitive, even to small structural changes. Particularly, the substitution of the quaternary carbon is of great influence on the scent. Epi-compounds with side chains in the endo-position possess sandalwood odor in only a few derivatives, whereas modifications at this side chain, as well as modification at the bicyclic ring systems mostly lead to a complete loss of sandalwood fragrance.

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