An alternatively spliced surfactant protein B mRNA in normal human lung: disease implication

scientific article published on October 1999

An alternatively spliced surfactant protein B mRNA in normal human lung: disease implication is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1042/0264-6021:3430145
P932PMC publication ID1220535
P698PubMed publication ID10493923
P5875ResearchGate publication ID12806160

P2093author name stringG Wang
J Floros
Z Lin
D E Demello
P2860cites workA point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British familiesQ24318493
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)Q24318586
Translation in vivo of 5' untranslated-region splice variants of human surfactant protein-AQ24528240
A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindredsQ24605337
Mapping the human pulmonary surfactant-associated protein B gene (SFTP3) to chromosome 2p12-->p11.2Q28240364
Surfactant proteins: molecular genetics of neonatal pulmonary diseasesQ28268727
Information analysis of human splice site mutationsQ28280101
Structure and organization of the gene encoding human pulmonary surfactant proteolipid SP-BQ28284705
Isolation of a cDNA clone encoding a high molecular weight precursor to a 6-kDa pulmonary surfactant-associated proteinQ28301346
Isolation and characterization of cDNA clones for the 35-kDa pulmonary surfactant-associated proteinQ28304157
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequencesQ29619441
Splicing of messenger RNA precursorsQ29619934
Targeted disruption of the surfactant protein B gene disrupts surfactant homeostasis, causing respiratory failure in newborn miceQ34008084
Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1.Q34384716
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.Q34386466
Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndromeQ35889560
Structural requirements for targeting of surfactant protein B (SP-B) to secretory granules in vitro and in vivoQ41174553
An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4.Q44894992
Association of pulmonary surfactant protein A (SP-A) gene and respiratory distress syndrome: interaction with SP-B.Q46267050
Identification of a novel alternatively spliced mRNA of murine pulmonary surfactant protein B.Q47892845
The involvement of Alu repeats in recombination events at the alpha-globin gene cluster: characterization of two alphazero-thalassaemia deletion breakpointsQ48052085
MLL self fusion mediated by Alu repeat homologous recombination and prognosis of AML-M4/M5 subtypesQ48056446
Identification ofAlu-mediated deletions in the Fanconi anemia geneFAAQ59389625
Postnatal stimulation of rat surfactant protein A synthesis by dexamethasoneQ69092978
Decreased lung compliance and air trapping in heterozygous SP-B-deficient miceQ71980262
A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17Q73090990
Rescue of SP-B knockout mice with a truncated SP-B proprotein. Function of the C-terminal propeptideQ73201745
Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndromeQ73552939
Surfactant protein B processing in human fetal lungQ77201022
Synthesis, processing and secretion of surfactant proteins B and CQ77545818
P407language of work or nameEnglishQ1860
P921main subjectlung diseaseQ3392853
P1104number of pages5
P304page(s)145-149
P577publication date1999-10-01
P1433published inBiochemical JournalQ864221
P1476titleAn alternatively spliced surfactant protein B mRNA in normal human lung: disease implication
P478volume343 Pt 1

Reverse relations

cites work (P2860)
Q36713716An intronic ABCA3 mutation that is responsible for respiratory disease
Q58586433Genetic Association of Pulmonary Surfactant Protein Genes, SFTPA1, SFTPA2, SFTPB, SFTPC, and SFTPD With Cystic Fibrosis
Q28143732Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS
Q36645897Surfactant protein B gene variations enhance susceptibility to squamous cell carcinoma of the lung in German patients