Disease relevance of PHC1

• We show that primary nodal large B-cell lymphomas (LBCLs), and secondary cutaneous deposits from such lymphomas, abnormally express the BMI-1, RING1, and HPH1 PcG genes in cycling neoplastic cells [1].
• Combined liver and kidney transplantation is the treatment of choice in patients with PH1 and advanced renal failure [2].
• Oxalate crystal deposition disease is seen in patients with primary hyperoxaluria types 1 and 2 (PH1 and 2) and in patients with end-stage renal disease managed with long-term dialysis [2].
• Stool specimens were examined for Oxalobacter formigenes in HyOx not related to PH type 1 or 2 (PH1, PH2) and in controls [3].
• We retrospectively assessed all baseline CT scans, dichotomized ASPECTS at < or =7 and >7, defined favorable outcome as modified Rankin Scale score 0 to 2 after 90 days, and secondary hemorrhage as parenchymal hematoma 1 (PH1) or PH2 [4].

Psychiatry related information on PHC1

• The tumor-associated binding characteristics of this antibody, its efficient internalization, and its human nature, make PH1-IgG1 a valuable candidate for further studies as a cancer-targeting immunotherapeutic [5].

High impact information on PHC1

• All patients showed engraftment, and the Philadelphia chromosome (PH1) disappeared in each case [6].
• These results indicate that a single amino acid substitution in SPT/AGT found in the PH1 case leads to a reduced half-life of this protein [7].
• By transient transfections in beta and non-beta cells, we show that mainly PH1 and PH2 preferentially confer beta-cell-specific activation on a heterologous promoter [8].
• Apart from the proximal promoter region, three highly homologous (PH1 to PH3) sequences were apparent in the human and mouse 5' flanking regions of the gene [8].
• Furthermore, the PH1 enhancer element also binds the PDX-1 transcription factor itself, which acts cooperatively with adjacent HNF-3beta to regulate its transcriptional potency [8].

Chemical compound and disease context of PHC1

• Its deficiency causes primary hyperoxaluria type 1 (PH1, MIM 259900), an inborn error of glyoxylate metabolism characterized by hyperoxaluria, nephrocalcinosis, and renal insufficiency [9].

Biological context of PHC1

• HPH1 and HPH2 have little sequence homology with each other, except in two highly conserved domains, designated homology domains I and II [10].
• The HPH1 gene consists of 15 exons spanning approximately 26 kb and its structural organization is well conserved between mouse and human [11].
• In this study we analyzed the structural organization of the human counterpart of the rae28/mph1 gene (RAE28/HPH1) and its processed pseudogene (psiPH), which are located on, respectively, human chromosome 12p13 and 12q13 [11].
• The other two genotypes, PH1 and PC, showed very low capability of shoot regeneration (<10%) on all the media tested [12].
• Furthermore, at least three PcG genes, Bmi1, Rae28, and Mel18, appear to regulate self-renewal of specific stem cell types suggesting a link between the maintenance of cellular homeostasis and tumorigenesis [13].

Anatomical context of PHC1

• Some of them were highly selectively expressed, such as HPH1, which was detected in germ cells in testis, pituitary and parathyroid glands and Langerhans islets, and RYBP, which was found in placenta, umbilical cord and thyroid gland [14].
• DNA extracted from bone marrow smears taken at diagnosis was screened for the presence of mutations in codons 12 and 13 of exon 1 by using the polymerase chain reaction to insert an Hph1 restriction enzyme site into DNA [15].
• PHC-1, the major constituent, induced the expression of glycophorin A and the enucleation for K562 cells [16].
• Cellular transfection to deliver alanine-glyoxylate aminotransferase to hepatocytes: a rational gene therapy for primary hyperoxaluria-1 (PH-1) [17].

Associations of PHC1 with chemical compounds

• To elucidate this issue we have measured the bony content of oxalate on biopsies of the iliac crest taken from 32 uremic patients, 7 of them with ESRF associated with PH1 (6 cases) or PH2 (1 case) [18].
• The nipple and areola diameter were also significantly greater in pubic hair stage (PH)3 (5.05 and 25.24 mm) with respect to PH2 and PH1 (3.46, 2.62 mm and 19.32, 15.37 mm, respectively), in PH5 (6.79 and 35.62 mm) with respect to PH4 (6.55 and 32.56 mm) [19].
• INTRODUCTION: The levels of urinary noradrenaline (NAd), adrenaline (Ad) and salivary cortisol (Cor) were determined in student and instructor pilots during Phase 1 (training with propeller engine; PH1), and Phase 2 (training with jet engine; PH2) flight training [20].
• BACKGROUND: Primary hyperoxaluria-type 1 (PH-1) is a rare autosomal recessive disorder of glyoxalate metabolism caused by deficiency in the liver-specific peroxisomal enzyme alanine-glyoxalate transaminase 1 (AGT) resulting in the increased oxidation of glyoxalate to oxalate [17].
• Pyridoxine-responsive PH1: treatment [21].

Physical interactions of PHC1

• Two-hybrid analysis shows that homology domain II of HPH1 interacts with both homology domains I and II of HPH2 [10].

Other interactions of PHC1

• These data demonstrate the involvement of homology domains I and II in protein-protein interactions and indicate that HPH1 and HPH2 are able to heterodimerize [10].
• Here, we show that RING1 coimmunoprecipitates with a human Pc homolog, the vertebrate PcG protein BMI1, and HPH1, a human homolog of the PcG protein Polyhomeotic (Ph) [22].

Analytical, diagnostic and therapeutic context of PHC1

• Genomic DNA studies have identified those genetic defects of PH1 and PH2 that allow a precise early diagnosis [2].
• However, there is little doubt of the value of genetic methods (mutation and linkage analysis) for diagnosing PH1 (and eventually PH2) in other family members and for prenatal diagnosis and carrier testing [23].
• We analyzed the expression of Scmh1 and rae28/mph1 using northern analysis of embryos and adult tissues, and in situ hybridization to embryos [24].
• A pilot study of idiotypic vaccination for follicular B-cell lymphoma using a genetic approach. CRC NO: 92/33. Protocol NO: PH1/027 [25].
• European PH1 transplant registry report on the results of combined liver/kidney transplantation for primary hyperoxaluria 1984 to 1992. European PHI Transplantation Study Group [26].

References