Polyphosphate: popping up from oblivion
Phosphate is one of the essential elements supporting life. Cells accumulate phosphate in
the form of a molecule called polyphosphate (polyP), which carries many functions in the …
the form of a molecule called polyphosphate (polyP), which carries many functions in the …
A polymorphic polymerase
S DiMauro, G Davidzon, M Hirano - Brain, 2006 - academic.oup.com
As implied by Greek etymology, polymerases make multiple (poly) identical parts (meroi) of
a template. Specifically, polymerase g (POLG) is in charge of replicating the mitochondrial …
a template. Specifically, polymerase g (POLG) is in charge of replicating the mitochondrial …
Genetics of hypophosphatasia
E Mornet - Archives de Pédiatrie, 2017 - Elsevier
Hypophosphatasia (HPP) is a rare inherited disorder primarily affecting bone and dental
mineralization. Although there is a continuum in the severity of the disease, clinical forms …
mineralization. Although there is a continuum in the severity of the disease, clinical forms …
Clinical forms and animal models of hypophosphatasia
JP Salles - Neuronal Tissue-Nonspecific Alkaline Phosphatase …, 2015 - Springer
Hypophosphatasia (HPP) is due to mutations of the tissue non-specific alkaline
phosphatase (TNAP) alkaline phosphatases gene expressed in the liver, kidney, and bone …
phosphatase (TNAP) alkaline phosphatases gene expressed in the liver, kidney, and bone …
Mononuclear cells in S-phase in a patient with purine nucleoside phosphorylase deficiency
GT Rijkers, BJM Zegers, LJM Spaapen… - Purine Metabolism in …, 1984 - Springer
Deficiency of purine nucleoside Phosphorylase (PNP) is causally associated with a cellular
immunodeficiency manifested by lymphopenia and severely decreased to negative …
immunodeficiency manifested by lymphopenia and severely decreased to negative …
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles
D Fauvert, I Brun-Heath, AS Lia-Baldini, L Bellazi… - BMC medical …, 2009 - Springer
Background Mild hypophosphatasia (HPP) phenotype may result from ALPL gene mutations
exhibiting residual alkaline phosphatase activity or from severe heterozygous mutations …
exhibiting residual alkaline phosphatase activity or from severe heterozygous mutations …
Intron requirement for expression of the human purine nucleoside phosphorylase gene
JJ Jonsson, MD Foresman, N Wilson… - Nucleic acids …, 1992 - academic.oup.com
Abbreviated purine nucleoside phosphorylase (PNP) genes were engineered to determine
the effect of introns on human PNP gene expression. PNP minigenes containing the first …
the effect of introns on human PNP gene expression. PNP minigenes containing the first …
Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) …
U Pannicke, P Tuchschmid, W Friedrich, CR Bartram… - Human genetics, 1996 - Springer
Four percent of human severe combined immunodeficiency cases are caused by a
deficiency of the enzyme purine nucleoside phosphorylase (PNP). In this study we …
deficiency of the enzyme purine nucleoside phosphorylase (PNP). In this study we …
Immunological aberrations in purine nucleoside phosphorylase deficiencies
AJ Ammann - Enzyme defects and immune dysfunction, 1979 - Wiley Online Library
Purine nucleoside phosphorylase deficiency in association with immunodeficiency is a
distinctive immunological disorder. A total of nine patients, in six different institutions, have …
distinctive immunological disorder. A total of nine patients, in six different institutions, have …
PTEN mutations and proteus syndrome
C Eng, H Thiele, XP Zhou, RJ Gorlin, RCM Hennekam… - The Lancet, 2001 - thelancet.com
Sir—In their report, Xiao-Ping Zhou and colleagues (July 21, p 210) 1 describe a study of
nine patients with Proteus syndrome, of whom two had mutations in the PTEN gene. They …
nine patients with Proteus syndrome, of whom two had mutations in the PTEN gene. They …