منابع مشابه
Fatal familial surfactant protein B deficiency.
Fatal familial surfactant protein B deficiency EDrroR,-In 1993 a sibship of three infants who died of hyaline membrane disease had had an absence of surfactant protein B (SP-B) and its mRNA in lung tissue.' The gene coding for SP-B has been located and a frameshift mutation in this gene has been identified in the reported sibship and in two other families .2 A further six cases of SP-B deficien...
متن کاملAllelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency.
Inability to produce surfactant protein B (SP-B) causes fatal neonatal respiratory disease. A frame-shift mutation (121ins2) is the predominant but not exclusive cause of disease. To determine the range of mechanisms responsible for SP-B deficiency, both alleles from 32 affected infants were characterized. Sixteen infants were homozygous for the 121ins2 mutation, 10 infants were heterozygous fo...
متن کاملReconstitution of surfactant activity by using the 6 kDa apoprotein associated with pulmonary surfactant.
Lipid extracts of bovine pulmonary surfactant containing the 6 kDa apoprotein, but lacking the 35 kDa apoprotein, can mimic the essential characteristics of pulmonary surfactant on a pulsating-bubble surfactometer. Reconstituted surfactant can be produced by combining silicic acid fractions containing 6 kDa apoprotein and phosphatidylglycerol with phosphatidylcholine. Treatment of the protein-c...
متن کاملApoprotein C-III deficiency markedly stimulates triglyceride secretion in vivo: comparison with apoprotein E.
Apoprotein (apo) C-III plays an important role in the development of hypertriglyceridemia by inhibiting triglyceride (TG) removal. However, the effect of apo C-III on TG production remains unclear. We measured TG secretion rate (TGSR) in apo C-III gene-disrupted (apo C-III-null) mice to investigate the influence of this protein on TG turnover. TGSR measured by the Triton WR-1339 method was incr...
متن کاملIn vitro surfactant protein B (SP-B) deficiency inhibits lamellar body formation
Surfactant protein B is essential for normal pulmonary surfactant activity and lamellar body genesis in type 2 cells. However, the role of SP-B in lamellar body genesis is poorly understood. We developed an adenovirus vector expressing antisense SP-B as an alternative in vitro model of SP-B deficiency to begin to explore the role of SP-B in lamellar body genesis. RT-PCR analysis revealed that a...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood - Fetal and Neonatal Edition
سال: 1995
ISSN: 1359-2998,1468-2052
DOI: 10.1136/fn.73.3.f125