Monogenic causes of pigmentary mosaicism.

Pigmentary mosaicism of the Ito type, also known as hypomelanosis of Ito, is a neurocutaneous syndrome considered to be predominantly caused by somatic chromosomal mosaicism. However, a few monogenic causes of pigmentary mosaicism have been recently reported. Eleven unrelated individuals with pigmentary mosaicism (mostly hypopigmented skin) were recruited for this study.

Analysis of rice ER-resident J-proteins reveals diversity and functional differentiation of the ER-resident Hsp70 system in plants.

The heat shock protein 70 (Hsp70) chaperone system participates in protein folding and quality control of unfolded proteins. To examine the roles of co-chaperones in the rice Hsp70 chaperone system in the endoplasmic reticulum (ER), the functions of six ER-resident J-proteins (OsP58A, OsP58B, OsERdj2, OsERdj3A, OsERdj3B, and OsERdj7) in rice were investigated. The expression of OsP58B, OsERdj3A, and OsERdj3B was predominantly up-regulated in roots subjected to ER stress.

Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood.

A boy with congenital generalized lipodystrophy type 4 with muscular dystrophy presented in infancy with delay in motor milestones and a persistent elevation of CK. There was no associated mental retardation. He was followed up to 3 years and 11 months; he had a homozygous c.

ER stress response induced by the production of human IL-7 in rice endosperm cells.

Rice seed has been used as a production platform for high value recombinant proteins. When mature human interleukin 7 (hIL-7) was expressed as a secretory protein in rice endosperm by ligating the N terminal glutelin signal peptide and the C terminal KDEL endoplasmic reticulum (ER) retention signal to the hIL-7 cytokine to improve production yield, this protein accumulated at levels visible by Coomassie Brilliant Blue staining. However, the production of this protein led not only to a severe reduction of endogenous seed storage proteins but also to a deterioration in grain quality.

Correlation of dysfunction of nonmuscle myosin IIA with increased induction of Cyp1a1 in Hepa-1 cells.

The aryl hydrocarbon receptor (AhR) is one of the best known ligand-activated transcription factors and it induces Cyp1a1 transcription by binding with 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD). Recent focus has been on the relationship of AhR with signaling pathways that modulate cell shape and migration. In nonmuscle cells, nonmuscle myosin II is one of the key determinants of cell morphology, but it has not been investigated whether its function is related to Cyp1a1 induction.

Characterization of the region of the aryl hydrocarbon receptor required for ligand dependency of transactivation using chimeric receptor between Drosophila and Mus musculus.

The aryl hydrocarbon receptor (AhR) is a ligand-activated transcriptional factor. Although 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) is high affinity and toxic to many vertebrate animals, invertebrate AhRs including Drosophila melanogaster AhR (spineless) have no ability to bind exogenous chemicals as ligands. To analyze the ligand-binding domain (LBD) of AhR, we used chimeras between mouse and Drosophila AhR.

Dramatic improvement of blood glucose control after pioglitazone treatment in poorly controlled over-weight diabetic patients with myotonic dystrophy.

Insulin resistance is mainly present in skeletal muscle in non-obese patients with myotonic dystrophy. Thiazolidinediones are reported to reduce insulin resistance in these patients. However, the effects of pioglitazone in overweight patients with myotonic dystrophy and type 2 diabetes mellitus have not been established.

[Cutaneous non-Hodgkin lymphoma of the leg occurring 11 years after renal transplantation].

A 54-year-old woman was diagnosed as having polycystic kidney in 1990. Renal transplantation was performed in 1995. She received immunosuppressive therapy postoperatively.

[A case of pulmonary nocardiosis diagnosed five years after hemoptysis].

A 73-year-old man complaining of bloody sputum was admitted to our hospital in August 2000. His giant left lower lung field bulla had been removed in 1997, at which time atelectasis in left S10 was pointed out. Production of bloody sputum was stopped by the emergency bronchial artery embolization, and Nocardia species was found in the sputum.

Recurrent yolk sac tumor following resection of a neonatal immature gastric teratoma.

Gastric teratomas are very rare and usually benign. Only a few cases of gastric teratomas with malignant components have been reported. This report describes recurrence of a yolk sac tumor following resection of a neonatal immature gastric teratoma.