Surfactant proteins: molecular genetics of neonatal pulmonary diseases

Annual Review of Physiology
Joanna Floros, P Kala

Abstract

Genetic and phenotypic complexity has been described for diseases of varied etiology. Groups of patients with varied phenotype can be used in association studies as an initial approach to identify contributing loci. Although association studies have limitations, their value is enhanced by using candidate genes with functions related to disease. Surfactant proteins have been studied in the etiopathogenesis of neonatal pulmonary diseases. SP-A and SP-B polymorphisms are found at a higher frequency in certain groups of patients with respiratory distress syndrome (RDS), and SP-B mutations are linked to the pathogenesis of congenital alveolar proteinosis (CAP). Phenotypic heterogeneity is observed for both CAP and RDS. The available data suggest that a number of factors contribute to the etiology of CAP and RDS and, therefore, a multidisciplinary approach of clinical, genetic, epidemiologic, and statistical considerations is necessary for an in-depth understanding of the pathophysiology of these and other pulmonary diseases.

References

Nov 8, 1979·The New England Journal of Medicine·J TordayE E Lawson
Oct 1, 1976·European Journal of Pediatrics·H M Lankenau
Apr 1, 1992·American Journal of Respiratory Cell and Molecular Biology·S L KatyalJ Locker
Jul 1, 1992·The American Journal of Physiology·T B VyasT M Butler
Aug 1, 1992·The Clinical Investigator·H HammW Bartsch
Jun 1, 1992·European Journal of Immunology·R MalhotraR B Sim
Dec 1, 1991·The Journal of Clinical Investigation·T J GregoryT M Hyers
Jul 1, 1991·American Journal of Respiratory Cell and Molecular Biology·M C WilliamsR L Hamilton
Aug 1, 1991·Journal of Applied Physiology·T KobayashiY Suzuki
May 2, 1991·The New England Journal of Medicine·Y OkanoH Lou
May 1, 1991·The American Review of Respiratory Disease·D S Phelps, R M Rose
Jul 1, 1991·The American Review of Respiratory Disease·F X McCormackR J Mason
Jan 1, 1990·American Journal of Respiratory Cell and Molecular Biology·F van IwaardenL M van Golde
Sep 13, 1990·Nature·P H St George-HyslopUNKNOWN FAD Collaborative Study Group
Jan 1, 1989·Journal of Clinical Epidemiology·M J KhouryR M Joesoef
Jul 1, 1989·The American Review of Respiratory Disease·Y SuzukiK Kogishi
Oct 1, 1988·The American Review of Respiratory Disease·F Possmayer
May 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·B NewmanM C King
Jul 1, 1987·Pediatric Pulmonology·D J FieldR J Madeley
Jul 15, 1986·The Biochemical Journal·D S PhelpsH W Taeusch
Mar 15, 1985·American Journal of Obstetrics and Gynecology·M J KhouryS M Zaro
Feb 15, 1973·American Journal of Obstetrics and Gynecology·L Gluck, M V Kulovich
Apr 1, 1971·Acta geneticae medicae et gemellologiae·N C MyrianthopoulosA J Baszynski
Nov 1, 1971·American Journal of Obstetrics and Gynecology·R H UsherF H McLean
Dec 1, 1966·American Journal of Obstetrics and Gynecology·S N GravenM Harrison
Jun 15, 1966·American Journal of Obstetrics and Gynecology·T Fujikura, L A Froehlich
Dec 3, 1981·The New England Journal of Medicine·K TejaP T Schnatterly
Jul 1, 1995·Annals of Human Genetics·P C Sham, D Curtis
Mar 1, 1994·American Journal of Respiratory and Critical Care Medicine·G R BernardR Spragg
Jul 1, 1995·American Journal of Respiratory and Critical Care Medicine·I R DoyleA D Bersten
Aug 1, 1995·American Journal of Respiratory and Critical Care Medicine·F X McCormackF X McCormac

❮ Previous
Next ❯

Citations

Dec 9, 2003·Chemosphere·Gavin W ten Tusscher, Janna G Koppe
May 23, 2001·Comparative Biochemistry and Physiology. Part A, Molecular & Integrative Physiology·H P Haagsman, R V Diemel
Dec 12, 2001·Pediatrics International : Official Journal of the Japan Pediatric Society·J FlorosJ Luo
Jul 28, 2011·Annals of Human Genetics·Zhenwu LinWalter A Koltun
Oct 6, 2000·APMIS. Supplementum·U L Holmskov
Jul 31, 2001·Pediatric Research·F S ColeL M Nogee
Dec 29, 2011·Frontiers in Bioscience (Landmark Edition)·Patricia Silveyra, Joanna Floros
Feb 5, 2008·Biophysical Chemistry·Suvasree MukherjeeS P Moulik
Dec 5, 2006·Seminars in Perinatology·Thomas Ferkol, Margaret Leigh
Oct 10, 2006·Pediatric Clinics of North America·F Sessions ColeAaron Hamvas
Nov 3, 2005·Paediatric Respiratory Reviews·J DaviesN Klein
Dec 25, 2010·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·P P R LyraM Cardeal
Jun 22, 2007·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·P P R LyraE M A Diniz
Nov 1, 2018·Annual Review of Physiology·Bo Wang, Peter Tontonoz
Jun 11, 1999·The Journal of Biological Chemistry·T MaekawaS Ishii
Nov 28, 2002·Annals of Medicine·Ritva Haataja, Mikko Hallman
Apr 6, 2000·American Journal of Physiology. Lung Cellular and Molecular Physiology·S M Pietschmann, U Pison
Nov 14, 1998·Biochimica Et Biophysica Acta·J Floros, R R Hoover
Mar 4, 2000·Pediatrics·F S ColeH R Colten

❮ Previous
Next ❯

Methods Mentioned

BETA
dissection
electrophoretic profile
bronchoalveolar lavage
lavage

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.