TY - JOUR
T1 - Genetics of the hydrophobic surfactant proteins
AU - Nogee, Lawrence M.
N1 - Funding Information:
Supported by grants from the National Institutes of Health (HL-54703 and HL-54187), and through the support of the Eudowood Foundation. The author wishes to thank Tammy Thompson for secretarial assistance in the preparation of the manuscript.
PY - 1998/11/19
Y1 - 1998/11/19
N2 - The hydrophobic surfactant proteins, SP-B and SP-C, serve important roles in surfactant function and metabolism. Both proteins are encoded by single genes, located on human chromosomes 2 and 8 respectively, which have been characterized and extensively studied. Mutations in the SP-B gene have been shown to cause severe lung disease, and polymorphisms in the SP-B gene may be associated with the development of RDS in premature infants. In contrast, mutations in the SP-C gene have not yet been identified or shown to cause lung disease, although given the apparent importance of SP-C in surfactant function, this remains a possibility. Copyright (C) 1998 Elsevier Science B.V.
AB - The hydrophobic surfactant proteins, SP-B and SP-C, serve important roles in surfactant function and metabolism. Both proteins are encoded by single genes, located on human chromosomes 2 and 8 respectively, which have been characterized and extensively studied. Mutations in the SP-B gene have been shown to cause severe lung disease, and polymorphisms in the SP-B gene may be associated with the development of RDS in premature infants. In contrast, mutations in the SP-C gene have not yet been identified or shown to cause lung disease, although given the apparent importance of SP-C in surfactant function, this remains a possibility. Copyright (C) 1998 Elsevier Science B.V.
KW - Alveolar proteinosis
KW - Bronchopulmonary dysplasia
KW - Hyaline membrane disease
KW - Interstitial lung disease
KW - Polymorphism
KW - Prematurity
KW - Respiratory distress syndrome
KW - Surfactant protein
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U2 - 10.1016/S0925-4439(98)00078-7
DO - 10.1016/S0925-4439(98)00078-7
M3 - Review article
C2 - 9813382
AN - SCOPUS:0031771069
SN - 0925-4439
VL - 1408
SP - 323
EP - 333
JO - Biochimica et Biophysica Acta - Molecular Basis of Disease
JF - Biochimica et Biophysica Acta - Molecular Basis of Disease
IS - 2-3
ER -