Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.7.7.6 (
RNA polymerase
)
34,946
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The CD40/CD40 ligand (CD40L) system has never been investigated in autoimmune bullous diseases belonging to the
pemphigus
group in humans. Skin biopsy specimens from 21 patients with
pemphigus
vulgaris, 10 with
pemphigus
foliaceous and healthy volunteers were studied by immunohistochemistry (for CD40 and CD40L) and reversal
transcriptase
polymerase-chain reaction (for CD40L), while sera were analyzed by enzyme-linked immunosorbent assay for soluble CD40L. In all
pemphigus
specimens, the basal and suprabasal layers of the epidermis and perivascular infiltrating cells were CD40+. CD40L+ cells moderately infiltrated the perivascular and interstitial dermis of
pemphigus
specimens. CD40L mRNA was strongly evident in all
pemphigus
samples while no signal was detected in the healthy controls. The expression of soluble CD40L was significantly greater in
pemphigus
sera than in controls. We showed here that the CD40/CD40L system is upregulated both in lesional skin and in serum of patients with
pemphigus
.
...
PMID:The CD40/CD40 ligand system is involved in the pathogenesis of pemphigus. 1753 37
Hailey-Hailey disease (HHD), also known as familial benign chronic
pemphigus
, is an autosomal dominant genodermatosis. It is characterized by erosions, blisters and erythematous plaques at sites of friction or intertriginous areas. The pathogenic gene of HHD has been revealed as the ATPase secretory pathway Ca
2+
transporting 1 gene ( ATP2C1), which encodes the protein, secretory pathway Ca
2+
/Mn
2+
-ATPase 1 (SPCA1). ATP2C1 gene mutations are responsible for HHD by resulting in abnormal Ca
2+
homeostasis in the skin and giving rise to acantholysis, a characteristic pathology of HHD. In this study, a four-generation family containing three HHD sufferers was recruited. Direct sequencing of the ATP2C1 gene was performed in the proband and other available family members. Reverse-
transcriptase
polymerase chain reaction analysis was conducted to show the potential variant effect on ATP2C1 splicing. A novel heterozygous c.325-2A>G transition at the splice acceptor site of intron 4 in the ATP2C1 gene was identified, and it co-segregated with the disease in this family. The mutation resulted in exon 5 skipping and an in-frame deletion of 12 amino acids (p.Ala109_Gln120del) in SPCA1. This splice-site mutation may be responsible for HHD in this family. This study would further expand the mutation spectrum of the ATP2C1 gene and may be helpful in the genetic counseling and prenatal diagnosis of HHD.
...
PMID:A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease. 3065 7
