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Thrombosis Research, ISSN 0049-3848, 07/2019, Volume 179, pp. 95 - 103
Hemophilia B is an X-linked recessive bleeding disorder caused by coagulation factor IX (FIX) gene ( ) mutations. Several synonymous mutations have been known... 
Signal peptide cleavage defect | Hemophilia B | Aberrant 5′ splice site | Splicing abnormality | Proteasome-dependent protein degradation | Peptides | RNA | Proteases | Proteolysis | Analysis | Hemophilia | Albumin | Genetic aspects | Prothrombin complex concentrate
Journal Article
ChemBioChem, ISSN 1439-4227, 07/2019, Volume 20, Issue 13, pp. 1684 - 1687
Covalent wrapping of recombinant human hemoglobin (Cys‐β93→Ala) variant rHb(βC93A) by human serum albumin (HSA) yielded the rHb(βC93A)‐HSA 3 cluster as an... 
site-directed mutagenesis | oxygen carriers | protein modifications | heme proteins | red blood cell substitutes | Human serum albumin | Alanine | Inositol | Albumin | Crosslinking | Serum albumin | Reduction | Red blood cells | Hemoglobin | Clusters | Affinity | Mutation | Recombinant | Index Medicus
Journal Article
Journal Article
NEW ENGLAND JOURNAL OF MEDICINE, ISSN 0028-4793, 03/2010, Volume 362, Issue 12, pp. 1102 - 1109
We describe two siblings from a consanguineous family with autosomal recessive Fanconi's syndrome and hypophosphatemic rickets. Genetic analysis revealed a... 
NEPHROLITHIASIS | SLC34A3 | HYPERCALCIURIA | NPT2A | MEDICINE, GENERAL & INTERNAL | HEREDITARY HYPOPHOSPHATEMIC RICKETS | HOMEOSTASIS | METABOLISM | MICE | ALBUMIN | SODIUM-PHOSPHATE COTRANSPORTER
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 07/2019, Volume 127, pp. 323 - 338
The assembly of tau protein into abnormal filaments and brain cell degeneration are characteristic of a number of human neurodegenerative diseases, including... 
Rat model | Neuronal loss | Gliosis | Neurodegeneration | FTDP-17T | Inflammation | Tauopathy | Alzheimer's disease | GENE-MUTATIONS | TRUNCATED TAU | ZEBRAFISH MODEL | FRONTOTEMPORAL DEMENTIA | ELEGANS MODEL | NEUROSCIENCES | APOLIPOPROTEIN-E | CELL-DEATH | MOUSE MODEL | IN-VIVO | EXPRESSION | Ethylenediaminetetraacetic acid | Phosphates | Ethylene glycol | Nervous system diseases | Parkinson's disease | Neurons | Albumin | Genetic engineering | Molecular biology | Protein kinases | GFAP, Glial Acidic Fibrillary Protein | MAPT, Microtubule-associated protein tau | NOL, Novel Object Location | BSA, Bovine serum albumin | EGTA, Ethylene glycol-bis(β-aminoethyl ether)-N,N,N′,N′-tetraacetic acid | NFT, Neurofibrillary tangle | CaMKIIα, Calcium | PMSF, Phenylmethylsulfonyl fluoride | CNS, Central nervous system | PFA, Paraformaldehyde | MRI, Magnetic resonance imaging | EM, Electron microscopy | Iba1, Ionized calcium-binding adapter molecule 1 | PCR, Polymerase chain reaction | TBS, Tris buffered saline | AD, Alzheimer's disease | calmodulin-dependent protein kinase II alpha subunit | PBS, Phosphate buffered saline | FTDP-17T, Frontotemporal dementia and parkinsonism linked to chromosome 17 caused by MAPT mutations | HRP, Horseradish peroxidase | EDTA, Ethylenediaminetetraacetic acid | NOR, Novel Object Recognition
Journal Article
BMC Nephrology, ISSN 1471-2369, 08/2019, Volume 20, Issue 1, pp. 1 - 5
Proteinuria is a common clinical presentation, the diagnostic workup for which involves many non-invasive and invasive investigations. We report on two... 
Chronic kidney failure | Anemia | Genomics | Albumin | Family | Genetic aspects | Proteinuria | Genetics | Chronic kidney disease
Journal Article