Results 91 to 100 of about 309,203 (310)
Demography and disorders of the French Bulldog population under primary veterinary care in the UK in 2013 [PDF]
, 2018 Background Despite its Gallic name, the French Bulldog is a breed of both British and French origin that was first recognised by The Kennel Club in 1906. The French Bulldog has demonstrated recent rapid rises in Kennel Club registrations and is now (2017)
A Agresti +36 more
core +2 more sources
FEBS Letters, EarlyView.This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva +5 more
wiley +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
FEBS Letters, EarlyView.The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li +2 more
wiley +1 more source
Familial myelodysplastic syndromes: a review of the literature
Haematologica, 2011 Familial cases of myelodysplastic syndromes are rare, but are immensely valuable for the investigation of the molecular pathogenesis of myelodysplasia in general.
Elena Liew, Carolyn Owen
doaj +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 +5 more
wiley +1 more source
Dyschromatosis universalis hereditaria: A rare case report
Journal of Mahatma Gandhi Institute of Medical Sciences, 2013 Dyschromatosis universalis hereditaria is an autosomal dominant disorder but may be recessive or sporadically inherited disorder, infrequently occurring genodermatosis with peculiar pigmentary changes, consisting of varying sized, intermingled ...
Esha Bisne, Sonia Jain, V B Shivkumar
doaj +1 more source
Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
, 2013 Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
core +2 more sources
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 +3 more
wiley +1 more source
FACTOR-X DEFICIENCY: A RARE DISORDER TO BE LOOKED FOR IN CASES OF CONGENITAL BLEEDING TENDENCY [PDF]
Khyber Medical University Journal, 2018 Factor X deficiency is a rare, autosomal recessive disorder that involves the coagulation cascade. People with this disorder present with a myriad of early life bleeding complications.
Fatima Ayaz +2 more
doaj