Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations [PDF]
, 2020 The importance of protein glycosylation in regulating lipid metabolism is becoming increasingly apparent. We set out to further investigate this by studying the effects of defective glycosylation on plasma lipids in patients with B4GALT1-CDG, caused by a
Ali, Lubna +13 more
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Lactose intolerance: genetics of lactase polymorphisms, diagnosis and novel therapy [PDF]
, 2014 Lactose intolerance is a common disorder affecting an individual's ability to digest lactose present in milk or any food product. Lactose intolerance is caused by the deficiency of β-galactosidase (lactase) in the digestive tract.
Buttar, Harpal S. +3 more
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Quali-quantitative evaluation of ileal peyer's patches innervation in scrapie-free or scrapie-affected sarda breed ovines [PDF]
, 2008 Although Peyer's patches (PPs) and the enteric nervous system (ENS) play a key role in early sheep scrapie pathogenesis, little is known on the kinetics of ENS plexuses colonization.
Baffoni, Marina +8 more
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Peripheral nerve sheath myxoma. Clinicopathological and immunohistochemical study of a morphologically distinctive myxoid peripheral nerve sheath tumor in the forelimb of a cat [PDF]
, 2008 Peripheral nerve sheath tumors (PNST) are a class of nervous system tumors which arise in both schwann cells and perineural fibroblasts. Benign and malignant PNSTs are reported to occur in all domestic animals.
Anfossi, Antonio +6 more
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Prima segnalazione di un caso di tumore misto mulleriano dell’ovaio in un cane = First report of canine malignant mixed mullerian tumor of the ovary [PDF]
, 2008 Adenocarcinoma is the most represented histotype of primary ovarian neoplasms in aged bitch. In woman, adenocarcinomas are quite common, whereas mixed forms as carcinosarcomas, or malignant mixed mullerian tumors [MMMTs] are rarely reported. The aim of
Antuofermo, Elisabetta +7 more
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Pathology of sea turtles Caretta caretta found on the coast of Apulia (south Italy) [PDF]
, 2008 On the basis of the most recent scientific literature, little is known on sea turtle renal pathology, as most published data mainly regard tortoises. The authors examined 49 carcasses of sea turtles belonging to the species Caretta caretta, stranded on
Anfossi, Antonio +8 more
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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. [PDF]
, 2014 PURPOSE: The endoplasmic reticulum-associated degradation pathway is responsible for the translocation of misfolded proteins across the endoplasmic reticulum membrane into the cytosol for subsequent degradation by the proteasome.
Bainbridge, M +34 more
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O spektrometriji masa u molekularnoj medicini: od elementarne analize do dijagnostičkog slikanja [PDF]
, 2010 Almost hundred years after the first demonstration of exact mass determination of chemical elements by J. J. Thomson’s in 1912, the method discovered by him – mass spectrometry – reached a high level of development in different fields of science and ...
Jasna Peter-Katalinić
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Molecular genetics of Usher syndrome -inherited deafness and blindness [PDF]
, 2011 Usher syndrome (USH) is an inherited blindness and deafness disorder with variable vestibular dysfunction. The syndrome is divided into three subtypes according to the progression and severity of clinical symptoms. The gene mutated in Usher syndrome type
Västinsalo, Hanna
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Genetic and molecular studies in Hyperinsulinemic Hypoglycemia and congenital Polycystic Kidney Disease (HIPKD) [PDF]
, 2018 Background: Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence (HIPKD) in 17 children from 11 unrelated families suggested a shared cause.
Kesselheim, Anne Lore
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