Results 81 to 90 of about 1,103,541 (343)

Insights into the renal pathophysiology in Hermansky‐Pudlak syndrome‐1 from urinary extracellular vesicle proteomics and a new mouse model

FEBS Letters, EarlyView.
Hermansky‐Pudlak syndrome type 1 (HPS‐1) is a rare, autosomal recessive disorder with poorly understood renal involvement. Urinary extracellular vesicle (uEV) proteomics and a novel Hps1 mouse model reveal mitochondrial abnormalities and lipid accumulation in HPS‐1 kidney proximal tubule cells. Serum ApoA1 correlates with kidney function in our patient
Dawn M. Maynard, Bernadette R. Gochuico, Hadass Pri Chen, Christopher K. E. Bleck, Patricia M. Zerfas, Wendy J. Introne, William A. Gahl, May C. V. Malicdan   +7 more
wiley   +1 more source

Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency

Haematologica, 2008
Factor X deficiency is a severe rare hemorrhagic condition inherited as an autosomal recessive trait. It is one of the most severe recessive inherited coagulation disorders. We analyzed the clinical manifestations, laboratory phenotype and genotype in 10
Mehran Karimi, Marzia Menegatti, Abdolreza Afrasiabi, Sanaz Sarikhani, Flora Peyvandi   +4 more
doaj   +1 more source

Cytosolic‐enhanced dark Epac‐based FRET sensors allow for intracellular cAMP detection in live cells via FLIM

FEBS Letters, EarlyView.
We describe a novel set of Epac‐based FRET‐FLIM biosensors with improved fully cytosolic distribution, achieved without compromising the state‐of‐the‐art performance of our original designs, for detecting cAMP dynamics in real time in live cells with high precision and reliability.
Giulia Zanetti, Jeffrey B. Klarenbeek, Kees Jalink   +2 more
wiley   +1 more source

Circulating Inhibitor against Factor X: A Rare Cause of Hemorrhagic Diathesis

Case Reports in Hematology, 2023
Acquired coagulopathies resulting from factor X deficiency are rare and typically associated with amyloidosis or plasma cell dyscrasia. Factor X plays a pivotal role in the coagulation cascade, converting prothrombin into thrombin and facilitating the ...
P. Rossignon, F. Grandjean, A. Claessens, N. Weynants   +3 more
doaj   +1 more source

The [2Fe‐2S] cluster of mitochondrial outer membrane protein mitoNEET has an O2‐regulated nitric oxide access tunnel

FEBS Letters, EarlyView.
The mitochondrial outer membrane iron–sulphur ([Fe‐S]) protein mitoNEET is a target of the type‐2 diabetes drug pioglitazone. Its unknown molecular function is linked to respiratory complex activity and mitochondrial function. We discovered that O2 protects the mitoNEET [2Fe‐2S] cluster against NO oxidation and desensitization towards reduction by H2S.
Thao Nghi Hoang, Meritxell Wu‐Lu, Alberto Collauto, Peter‐Leon Hagedoorn, Madalina Alexandru, Maike Henschel, Shahram Kordasti, Maria Andrea Mroginski, Maxie M. Roessler, Kourosh H. Ebrahimi   +9 more
wiley   +1 more source

ChAInGeS: The Chandra Arp Interacting Galaxies Survey

, 2011
We have conducted a statistical analysis of the ultra-luminous X-ray point sources (ULXs; L(X) >= 10^39 erg/s) in a sample of galaxies selected from the Arp Atlas of Peculiar Galaxies.
Abazajian, Alonso-Herrero, Alonso-Herrero, Arp, Barton, Barton Gillespie, Begelman, Beverly J. Smith, Casosola, Colbert, Curtis Struck, de Vaucouleurs, Donzelli, Douglas A. Swartz, Duc, Duc, Ellison, Evans, Gao, Haan, Hancock, Imanishi, Jacob A. Burleson, Jester, Kennicutt, King, Kuntz, Lehmer, Liu, Liu, Liu, Liu, Lucero, Michael A. Nowak, Mirabel, Modica, Moretti, Moustakas, Moustakas, Mukai, Norris, Olivia Miller, Pakull, Pakull, Parma, Parra, Petric, Ptak, Ptak, Richards, Rothberg, Schlegel, Sekiguchi, Silverman, Smith, Smith, Smith, Smith, Smith, Stoughton, Struck, Surace, Swartz, Swartz, Swartz, Swartz, Tao, Tennant, Terashima, Veilleux, Werk, Xu, Zezas, Zhang, Zombeck   +74 more
core   +1 more source

Deficiency of the basic helix‐loop‐helix transcription factor DEC1 prevents obesity induced by a high‐fat diet in mice [PDF]

, 2018
Obesity is a major public health problem in developed countries resulting from increased food intake and decreased energy consumption and usually associated with abnormal lipid metabolism.
Fujimoto, Katsumi, Honda, Kiyomasa, Kato, Yukio, Kawamoto, Takeshi, Nakashima, Ayumu, Noshiro, Mitsuhide, Ozaki, Noritsugu, Saeki, Masayumi, Ueno, Toshinori   +8 more
core   +1 more source

Functional variation among LPMOs revealed by the inhibitory effects of cyanide and buffer ions

FEBS Letters, EarlyView.
This study addresses the inhibition of lytic polysaccharide monooxygenases (LPMOs) by cyanide and explains how and why the magnitude of observed inhibitory effects depends on the way LPMO reactions are setup and on the type of LPMO. Enzymes known as lytic polysaccharide monooxygenases (LPMOs) are mono‐copper polysaccharide‐degrading peroxygenases that ...
Ole Golten, Lorenz Schwaiger, Zarah Forsberg, Kelsi R. Hall, Anton A. Stepnov, Tom Z. Emrich‐Mills, Iván Ayuso‐Fernández, Morten Sørlie, Roland Ludwig, Åsmund Kjendseth Røhr, Vincent G. H. Eijsink   +10 more
wiley   +1 more source

Electron scattering in isotonic chains as a probe of the proton shell structure of unstable nuclei [PDF]

Phys. Rev. C 87, 014304 (2013), 2012
Electron scattering on unstable nuclei is planned in future facilities of the GSI and RIKEN upgrades. Motivated by this fact, we study theoretical predictions for elastic electron scattering in the N=82, N=50, and N=14 isotonic chains from very proton-deficient to very proton-rich isotones.
arxiv   +1 more source

Review Dental Treatment of Patients with Congenital Bleeding Disorders

Česká Stomatologie a Praktické Zubní Lékařství, 2014
Objectives: The commonest congenital bleeding disorders in childhood are hemophilia, von Willebrand disease and deficiency of factor XI. Disease is characterized by a deficient of coagulability. It is a gonosomal recessive condition.
J. Papež, K. Chleborád, T. Dostálová
doaj   +1 more source