Evidence for Phex haploinsufficiency in murine X-linked hypophosphatemia
L Wang, L Du, B Ecarot - Mammalian genome, 1999 - Springer
Mutations in the PHEX gene (phosphate-regulating gene with homology to endopeptidases
on the X-chromosome) are responsible for X-linked hypophosphatemia (HYP). We …
on the X-chromosome) are responsible for X-linked hypophosphatemia (HYP). We …
The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?
JA Duley, J Christodoulou… - … , Nucleotides and Nucleic …, 2011 - Taylor & Francis
Defects in X-linked phosphoribosylpyrophosphate synthetase 1 (PRPS1) manifest as
follows:(1) PRS-I enzyme “superactivity”(gain-of-function mutations affecting allosteric …
follows:(1) PRS-I enzyme “superactivity”(gain-of-function mutations affecting allosteric …
[HTML][HTML] Structural localization of disease-associated sequence variations in the NACHT and LRR domains of PYPAF1 and NOD2
Several autoinflammatory diseases with distinct clinical manifestations have been
associated with sequence variations in the gene products PYPAF1/CIAS1 and …
associated with sequence variations in the gene products PYPAF1/CIAS1 and …
PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.
FA Hol, MP Geurds, S Chatkupt, YY Shugart… - Journal of medical …, 1996 - jmg.bmj.com
From studies in the mouse and from the clinical and molecular analysis of patients with type
1 Waardenburg syndrome, particular members of the PAX gene family are suspected factors …
1 Waardenburg syndrome, particular members of the PAX gene family are suspected factors …
Late diagnosis and correction of purine nucleoside phosphorylase deficiency with allogeneic bone marrow transplantation.
PA Carpenter, JB Ziegler, MR Vowels - Bone marrow …, 1996 - europepmc.org
A 5-year-old boy with spastic quadriplegia, T cell immunodeficiency, hypouricemia and
immune cytopenias from age 8 months, was found to have purine nucleoside phosphorylase …
immune cytopenias from age 8 months, was found to have purine nucleoside phosphorylase …
Purine nucleoside phosphorylase deficiency: a mutation update
PLC Walker, A Corrigan, M Arenas… - … and Nucleic Acids, 2011 - Taylor & Francis
Purine nucleoside phosphorylase (PNPase) deficiency is an autosomal recessive disorder
affecting purine degradation and salvage pathways. Clinically, patients typically present with …
affecting purine degradation and salvage pathways. Clinically, patients typically present with …
A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect.
In our analysis of mutations causing DHPR deficiency we identified a patient in whom there
was an aberrant transcription pattern detected by PCR of DHPR cDNA. However, unlike the …
was an aberrant transcription pattern detected by PCR of DHPR cDNA. However, unlike the …
Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster
W Chi, ASR Iyengar, M Albersen… - Human molecular …, 2019 - academic.oup.com
Abstract Pyridox (am) ine 5'-phosphate oxidase (PNPO) is a rate-limiting enzyme in
converting dietary vitamin B6 (VB6) to pyridoxal 5'-phosphate (PLP), the biologically active …
converting dietary vitamin B6 (VB6) to pyridoxal 5'-phosphate (PLP), the biologically active …
Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons
! Summay 'We have used homologous recombination in embryonic stem cells to generate
mice carrying a mutation iin the gene encoding PO, an immunoglobulin-related Irecognition …
mice carrying a mutation iin the gene encoding PO, an immunoglobulin-related Irecognition …