Results 81 to 90 of about 143,066 (307)
, 2015 Soft connective tissue calcification is still an intriguing problem due to the high number of genes, proteins, and enzymes involved in the process. Numerous epidemiological and experimental studies of the ectopic calcification associated with metabolic ...
Ivonne Pasquali Ronchetti
core
Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation
FEBS Letters, EarlyView.Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz +11 more
wiley +1 more source
Stem Cell ResearchCDC73-related disorders are inherited in an autosomal dominant manner. An individual with a CDC73-related disorder may have inherited the disorder from an affected parent or developed it as the result of a de novo pathogenic variant of CDC73.
Almaqdad Alsalloum +7 more
doaj +1 more source
FEBS Letters, EarlyView.Plasma membranes contain dynamic nanoscale domains that organize lipids and receptors. Because viruses operate at similar scales, this architecture shapes early infection steps, including attachment, receptor engagement, and entry. Using influenza A virus and HIV‐1 as examples, we highlight how receptor nanoclusters, multivalent glycan interactions ...
Jan Schlegel, Christian Sieben
wiley +1 more source
Upper limb peripheral neuropathy in sickle cell anemia: MR neurography appearances
Indian Journal of Radiology and Imaging, 2019 Sickle cell anemia is an inherited disorder with many systemic complications. Peripheral neuropathy related to this disorder has been sparsely reported.
Feng Poh, Rocco Hlis, Avneesh Chhabra
doaj +1 more source
Hepatitic inherited metabolic disorders
Seminars in Diagnostic Pathology, 2006 Primary metabolic disorders are a disparate group of diseases that may or may not be accompanied by hepatic manifestations. Those with liver involvement may show a range of histopathologic changes. Proper histologic diagnosis requires correlation with clinical and laboratory data, including evaluation for mutations either via serum protein ...
University of Florida College of Medicine, Gainesville, Florida. ( host institution ) +2 more
openaire +3 more sources
Inherited Peripheral Neuropathies
, 2013 Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral neuropathies in which the neuropathy is the sole or primary component of the disorder, as opposed to diseases in which the neuropathy is part of a more generalized ...
Shy, Michael E, Saporta, Mario A
core +1 more source
FEBS Letters, EarlyView.Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil +4 more
wiley +1 more source
[An inherited hemostatic disorder as the cause of menorrhagia].
, 2002 Contains fulltext : 87150.pdf (Publisher’s version ) (Closed access)Two women aged 39 and 30 years were investigated for possible coagulation disorders because of menorrhagia, anaemia and postoperative haemorrhages. These investigations
Leebeek, F.W., Lotgering, F.K.
core
Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita
, 2012 The aim of this study is to present the limbal stem cell deficiency (LSCD) cases with features resembling dyskeratosis congenita (DC), a heritable disease of stem cells principally caused by telomerase deficiency.
AKATA, RÜŞTÜ FİKRET +4 more
core +1 more source