Results 101 to 110 of about 308,307 (292)

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

, 2020
Arterial tortuosity syndrome (ATS) is a recessively inherited connective tissue disorder, mainly characterized by tortuosity and aneurysm formation of the major arteries.
Barnhoorn, Sander, Beyens, Aude, Boel, Annekatrien, Burger, Joyce, Callewaert, Bert, Casteleyn, Christophe, Coucke, Paul, Descamps, Benedicte, Essers, Jeroen, Reinhardt, Dieter, Renard, Marjolijn, van der Pluijm, Ingrid, Vanhomwegen, Marine, Vanhove, Christian, Willaert, Andy   +14 more
core   +1 more source

PICALM::MLLT10 translocated leukemia

FEBS Letters, EarlyView.
This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen, Antonia C. Nakatsugawa, Natalie Barton, Henry Haines, Gary S. Stein, Janet L. Stein, Daniel S. Wechsler, Jessica L. Heath   +7 more
wiley   +1 more source

Cell wall target fragment discovery using a low‐cost, minimal fragment library

FEBS Letters, EarlyView.
LoCoFrag100 is a fragment library made up of 100 different compounds. Similarity between the fragments is minimized and 10 different fragments are mixed into a single cocktail, which is soaked to protein crystals. These crystals are analysed by X‐ray crystallography, revealing the binding modes of the bound fragment ligands.
Kaizhou Yan, Mathew Stanley, Olawale Raimi, Andrew T. Ferenbach, Helge C Dorfmueller, Daan M. F. van Aalten   +5 more
wiley   +1 more source

A transgenic mice model of retinopathy of cblG-type inherited disorder of one-carbon metabolism highlights epigenome-wide alterations related to cone photoreceptor cells development and retinal metabolism. [PDF]

Clin Epigenetics, 2023
Matmat K, Conart JB, Graindorge PH, El Kouche S, Hassan Z, Siblini Y, Umoret R, Safar R, Baspinar O, Robert A, Alberto JM, Oussalah A, Coelho D, Guéant JL, Guéant-Rodriguez RM.   +14 more
europepmc   +1 more source

Ontological representation of CDC Active Bacterial Core Surveillance Case Reports [PDF]

, 2014
The Center for Disease Control and Prevention’s Active Bacterial Core Surveillance (CDC ABCs) Program is a collaborative effort betweeen the CDC, state health departments, laboratories, and universities to track invasive bacterial pathogens of particular
Cowell, Lindsay G., Goldfain, Albert, Smith, Barry   +2 more
core  

Epidemiological associations between brachycephaly and upper respiratory tract disorders in dogs attending veterinary practices in England [PDF]

, 2015
Background: Brachycephalic dog breeds are increasingly common. Canine brachycephaly has been associated with upper respiratory tract (URT) disorders but reliable prevalence data remain lacking.
AG Drake, AJ German, AK Hussein, Anon, BR Kirkwood, C Rusbridge, CD Knecht, CV Torrez, D Alderton, D Aron, D Bannasch, D Georgevsky, D Lorenzi De, DA Koch, DG O’Neill, DG O’Neill, DG O’Neill, DN Irion, EM Lund, F Bernaerts, FJ Fasanella, FS Roedler, HG Parker, I Dohoo, J Clutton-Brock, J Sampson, JJ Schoenebeck, JJ Schoenebeck, K Lindblad-Toh, L Asher, LM Collins, MJ Schmidt, MW Neff, NJ Beausoleil, P Bateson, PD McGreevy, RMA Packer, S Fonfara, S Isono, T Emmerson   +39 more
core   +2 more sources

The (Glg)ABCs of cyanobacteria: modelling of glycogen synthesis and functional divergence of glycogen synthases in Synechocystis sp. PCC 6803

FEBS Letters, EarlyView.
We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee, Dimitrios Bekiari, Sofia Doello, Karl Forchhammer   +3 more
wiley   +1 more source

FREQUENCY OF INHERITED PLATELE FUNCTION DISORDERS–ARMED FORCES INSTITUTE OF PATHOLOGY EXPERIENCE

Pakistan Armed Forces Medical Journal, 2020
Objective: To determine the frequency and clinical features of inherited platelet function disorders diagnosed at Armed Forces Institute of Pathology. Study Design: Cross sectional study.
Saira Irum, Helen Mary Robert, Asad Mahmood, Rafia Mahmood, Ayesha Khurshid, Mansoor Ishaq   +5 more
doaj  

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B₁₂. [PDF]

Clin Epigenetics, 2022
Oussalah A, Siblini Y, Hergalant S, Chéry C, Rouyer P, Cavicchi C, Guerrini R, Morange PE, Trégouët D, Pupavac M, Watkins D, Pastinen T, Chung WK, Ficicioglu C, Feillet F, Froese DS, Baumgartner MR, Benoist JF, Majewski J, Morrone A, Rosenblatt DS, Guéant JL.   +21 more
europepmc   +1 more source

Structural biology of ferritin nanocages

FEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source