Comprehensive genetic variant discovery in the surfactant protein B gene.

Abstract:

:Completely penetrant mutations in the surfactant protein B gene (SFTPB) and >75% reduction of SFTPB expression disrupt pulmonary surfactant function and cause neonatal respiratory distress syndrome. To inform studies of genetic regulation of SFTPB expression, we created a catalogue of SFTPB variants by comprehensive resequencing from an unselected, population-based cohort (n = 1,116). We found an excess of low-frequency variation [81 SNPs and five small insertion/deletions (in/dels)]. Despite its small genomic size (9.7 kb), SFTPB was characterized by weak linkage disequilibrium (LD) and high haplotype diversity. Using the HapMap Yoruban and European populations, we identified a recombination hot spot that spans SFTPB, was not detectable in our focused resequencing data, and accounts for weak LD. Using homology-based software tools, we discovered no definitively damaging exonic variants. We conclude that excess low-frequency variation, intragenic recombination and lack of common disruptive exonic variants favor complete resequencing as the optimal approach for genetic association studies to identify regulatory SFTPB variants that cause neonatal respiratory distress syndrome in genetically diverse populations.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

Hamvas A,Wegner DJ,Carlson CS,Bergmann KR,Trusgnich MA,Fulton L,Kasai Y,An P,Mardis ER,Wilson RK,Cole FS

doi

10.1203/PDR.0b013e3180a03232

subject

Has Abstract

pub_date

2007-08-01 00:00:00

pages

170-5

issue

2

eissn

0031-3998

issn

1530-0447

journal_volume

62

pub_type

杂志文章
  • Racial differences in encounter rates for otitis media.

    abstract::In 1975-1976, an experiment was performed at three sites of an HMO to investigate the effect of a protocol on drug prescribing for otitis media. A large and unexpected difference in encounter rates for otitis media was found among the sites. In the first 6 months of 1975, the rate of children less than 15 years with a...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198010000-00005

    authors: Bush PJ,Rabin DL

    更新日期:1980-10-01 00:00:00

  • "Car. factor" deficiency revisited.

    abstract::Three members of a Virginia family with a bleeding disorder were found to have a serum defect in thromboplastin generation similar to the previously reported "Car. factor" deficiency. Sera from three members of the original Car. family did not correct the defect of affected members of the Virginia family. Partial thro...

    journal_title:Pediatric research

    pub_type: 临床试验,杂志文章

    doi:10.1203/00006450-197504000-00009

    authors: Komp DM

    更新日期:1975-04-01 00:00:00

  • Review of bilirubin neurotoxicity I: molecular biology and neuropathology of disease.

    abstract::Despite the availability of successful prevention strategies to prevent excessive hyperbilirubinemia, the neurological sequelae of bilirubin neurotoxicity (BNTx) still occur throughout the world. Kernicterus, encephalopathy due to BNTx, is now understood to be a spectrum of severity and phenotypes known as kernicterus...

    journal_title:Pediatric research

    pub_type: 杂志文章,评审

    doi:10.1038/s41390-019-0608-0

    authors: Riordan SM,Shapiro SM

    更新日期:2020-01-01 00:00:00

  • Mouse model of mevalonate kinase deficiency: comparison of cytokine and chemokine profile with that of human patients.

    abstract:BACKGROUND:Mevalonate kinase deficiency (MKD) is a rare genetic autoinflammatory disease caused by blocking of the enzyme mevalonate kinase in the pathway of cholesterol and isoprenoids. The pathogenic mechanism originating an immune response in MKD patients has not been clearly understood. METHODS:We investigated the...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1038/pr.2013.96

    authors: Marcuzzi A,Zanin V,Kleiner G,Monasta L,Crovella S

    更新日期:2013-09-01 00:00:00

  • Effects of endothelin on renal function in newborn rabbits.

    abstract::The renal effects of endothelin-1 were investigated in 16 anesthetized and mechanically ventilated newborn rabbits. Renal blood flow and glomerular filtration rate were determined by the clearance of para-aminohippuric acid and inulin, respectively. Each animal acted as its own control. In eight newborn rabbits, a bol...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-199308000-00002

    authors: Semama DS,Thonney M,Guignard JP,Gouyon JB

    更新日期:1993-08-01 00:00:00

  • Absorption of calcium, zinc, and iron from breast milk by five- to seven-month-old infants.

    abstract::Data are scarce regarding mineral bioavailability from human milk in older infants who may also be receiving solid foods (beikost). We measured the absorption of Ca, Zn, and Fe in 14 healthy, nonanemic 5-7-mo-old breast-fed infants whose mothers milk was extrinsically labeled with stable isotopes (44Ca, 70Zn, and 58Fe...

    journal_title:Pediatric research

    pub_type: 临床试验,杂志文章

    doi:10.1203/00006450-199703000-00014

    authors: Abrams SA,Wen J,Stuff JE

    更新日期:1997-03-01 00:00:00

  • Ouabain effects on oxygen physiology in anemic lambs.

    abstract::We studied the effects of anemia and ouabain administration on cardiac function, oxygen physiology, and blood catecholamine levels in nine newborn lambs. We measured oxygen consumption continuously, along with traditional hemodynamic variables. Oxygen transport was calculated. Following baseline measurements, lambs we...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198705000-00005

    authors: Berman W Jr,Lister G Jr,Alverson D,Olsen S

    更新日期:1987-05-01 00:00:00

  • Real-time spectral analysis of the fetal EEG: a new approach to monitoring sleep states and fetal condition during labor.

    abstract::Adverse perinatal events affecting cerebral functions are a major cause of neonatal mortality, morbidity, and long-term neurologic deficit. Intrapartum fetal EEG, which records fetal brain electrical activity, provides a monitoring modality for evaluating the fetal CNS during labor. In this study, we describe a new ap...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-200009000-00013

    authors: Thaler I,Boldes R,Timor-Tritsch I

    更新日期:2000-09-01 00:00:00

  • Exercise-associated prevention of adult cardiovascular disease in children and adolescents: monocytes, molecular mechanisms, and a call for discovery.

    abstract::Atherosclerosis originates in childhood and adolescence. The goal of this review is to highlight how exercise and physical activity during childhood and adolescence, critical periods of growth and development, can prevent adult cardiovascular disease (CVD), particularly through molecular mechanisms of monocytes, a key...

    journal_title:Pediatric research

    pub_type: 杂志文章,评审

    doi:10.1038/s41390-019-0581-7

    authors: Cooper DM,Radom-Aizik S

    更新日期:2020-01-01 00:00:00

  • Urologic tissue engineering in pediatrics: from nanostructures to bladders.

    abstract::The use of tissue engineering to develop new urinary bladder could have direct impact on children suffering from congenital bladder dysfunction. Current bladder tissue engineering protocols rely on scaffolds to support the ingrowth of new cells and the subsequent development of new tissues. The interaction between cel...

    journal_title:Pediatric research

    pub_type: 杂志文章,评审

    doi:10.1203/PDR.0b013e3181d35034

    authors: Roth CC

    更新日期:2010-05-01 00:00:00

  • Salivary carcinoembryonic antigen (CEA) in cystic fibrosis.

    abstract::Increased concentrations of carcinoembryonic antigen (CEA) have been reported in the sera and sputum of patients with cystic fibrosis. We have found significantly higher concentrations of CEA in both extracted and unextracted saliva of patients with cystic fibrosis compared to age-matched controls and a comparable gro...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198003000-00002

    authors: MacSween JM,Gillespie CT

    更新日期:1980-03-01 00:00:00

  • Higher incidence of small Y chromosome in humans with trisomy 21 (Down syndrome).

    abstract::The length of the Y chromosome was measured in 42 black patients with trisomy 21 (47,XY,+21) and a similar number of normal individuals of American black ancestry. The length of the Y was expressed as a function of Y/F ratio and arbitrarily classified into five groups using subjectively defined criteria as follows: ve...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198209000-00012

    authors: Verma RS,Huq A,Madahar C,Qazi Q,Dosik H

    更新日期:1982-09-01 00:00:00

  • Differential diagnosis of various thrombocytopenias in childhood by analysis of platelet volume.

    abstract::Platelet volume was measured in 20 healthy children, 18 patients with acute idiopathic thrombocytopenic purpura (ITP), 24 patients with chronic ITP, 22 patients with aplastic anemia, and 17 patients with acute leukemia in childhood. The authors compared the platelet volume of these patients by use of peak platelet vol...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198002000-00013

    authors: Tomita E,Akatsuka JI,Kokubun Y

    更新日期:1980-02-01 00:00:00

  • ERP evidence of preserved early memory function in term infants with neonatal encephalopathy following therapeutic hypothermia.

    abstract:BACKGROUND:Neonatal encephalopathy (NE) carries high risk for neurodevelopmental impairments. Therapeutic hypothermia (TH) reduces this risk, particularly for moderate encephalopathy (ME). Nevertheless, these infants often have subtle functional deficits, including abnormal memory function. Detection of deficits at the...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1038/pr.2016.169

    authors: Pfister KM,Zhang L,Miller NC,Hultgren S,Boys CJ,Georgieff MK

    更新日期:2016-12-01 00:00:00

  • Experimental neonatal syphilis. II. Immunological responses of neonatal rabbits to intradermal inoculation with Treponema pallidum (Nichols strain).

    abstract::The immunological competence of neonatal rabbits inoculated intradermally with Treponema pallidum was examined. Both cellular responses and the production of humoral antibody to specific T. pallidum antigens and to nonspecific antigens or mitogens were investigated. In blast transformation assays, splenic and poplitea...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198410000-00013

    authors: Gamboa D,Miller JN,Lukehart SA,Baker-Zander SA,Sell S

    更新日期:1984-10-01 00:00:00

  • The expression of VEGF and its receptors in the human ductus arteriosus.

    abstract::Programmed proliferative degeneration of the human fetal ductus arteriosus (DA) preceding definite postnatal closure has a large developmental variability and is controlled by several signaling pathways. Among these vascular endothelial growth factor (VEGF) and its receptors (VEGF-Rs) play an important role. Until now...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e318180a375

    authors: Weber SC,Rheinlaender C,Sarioglu N,Peiser C,Rüdiger M,Obladen M,Koehne PS

    更新日期:2008-10-01 00:00:00

  • Interactions of soybean lectin, soyasaponins, and glycinin with rabbit jejunal mucosa in vitro.

    abstract::Mucosal samples from rabbit jejunum were incubated (30 min, 25 degrees C) with (125I)glycinin in the presence of buffer, soybean lectin (50 micrograms/ml) soyasaponins (1 mg/ml), or both lectin and saponins. The mucosal uptake of (125I)glycinin was negligible with buffer, and increased progressively with additions of ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198209000-00005

    authors: Alvarez JR,Torres-Pinedo R

    更新日期:1982-09-01 00:00:00

  • Development of autologous specific reactivity to human neuroblastoma.

    abstract::Antigenic analysis of neuroblastoma cells was performed by autologous typing and indirect immunofluorescent test combined with absorption tests. Serum of a patient with neuroblastoma before treatment showed weak reactivity with cultured autologous neuroblastoma cells, while serum obtained from the same patient 3 month...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198610000-00001

    authors: Kawai K,Sakatoku H,Matsuda T,Kazuoka K,Kubo S,Kamiya H,Sakurai M

    更新日期:1986-10-01 00:00:00

  • Comparison of maximal oxygen consumption between obese black and white adolescents.

    abstract::The purpose of this investigation was to determine whether maximal oxygen consumption (VO2max) differed between clinically obese black and white children and if a difference existed to determine whether it was related to hematological profiles and/or physical activity/inactivity levels. Twenty-three black and 21 white...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.pdr.0000176909.66057.a3

    authors: Andreacci JL,Robertson RJ,Dubé JJ,Aaron DJ,Dixon CB,Arslanian SA

    更新日期:2005-09-01 00:00:00

  • Lung development in the fetal primate Macaca nemestrina. III. HMD.

    abstract::Delivery of M. nemestrina at 80% of normal gestation provides a population of neonates at high risk for hyaline membrane disease (HMD). The diagnosis of HMD was made by the presence of reticulogranular densities and air bronchograms on chest radiographs. Patchy atelectasis was seen in the lungs of animals assigned by ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-197905000-00017

    authors: Prueitt JL,Palmer S,Standaert TA,Luchtel DL,Murphy JH,Hodson WA

    更新日期:1979-05-01 00:00:00

  • CD38 expression on CD8(+) T cells as a prognostic marker in vertically HIV-infected pediatric patients.

    abstract::Increased expression of CD38 on CD8(+) T cells is associated with activation of the immune system, progression of HIV disease, and death in adults. The prognostic significance of these cells in HIV-infected children, where the picture is complicated by age-related differences in CD38 expression, remains controversial....

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-200206000-00013

    authors: Sherman GG,Scott LE,Galpin JS,Kuhn L,Tiemessen CT,Simmank K,Meddows-Taylor S,Meyers TM

    更新日期:2002-06-01 00:00:00

  • TNFalpha decreases gluconeogenesis in hepatocytes isolated from 10-day-old rats.

    abstract::Gluconeogenesis decreases during septic shock, but its mechanism is not well known. Tumor necrosis factor alpha (TNF-alpha), which is a key cytokine in septic shock, can increase GLUT1 gene expression and glucose uptake in muscles and fatty tissues. TNF-alpha does not alter the metabolism of hepatocytes in which GLUT2...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-200104000-00018

    authors: Goto M,Yoshioka T,Battelino T,Ravindranath T,Zeller WP

    更新日期:2001-04-01 00:00:00

  • Fish oil supplementation in pregnancy modifies neonatal progenitors at birth in infants at risk of atopy.

    abstract::Dietary n-3 polyunsaturated fatty acids (PUFA) may represent a mode of allergy prevention. Cord blood (CB) CD34+ hemopoietic progenitors are altered in infants at risk of atopy. We therefore studied the effects of dietary n-3 PUFA supplementation during pregnancy on numbers and function of progenitors in neonates at h...

    journal_title:Pediatric research

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1203/01.PDR.0000148279.72611.1D

    authors: Denburg JA,Hatfield HM,Cyr MM,Hayes L,Holt PG,Sehmi R,Dunstan JA,Prescott SL

    更新日期:2005-02-01 00:00:00

  • Cartilage of I-cell disease.

    abstract::Biochemical analysis and morphologic observation of the iliac crest cartilage from 8-year-old girl with I-cell disease were performed. Instead of hypertrophic change of chondrocytes in the zone of cartilage-bone junction, there were small atrophic cells having many inclusion bodies accumulated with lamellar materials....

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198104000-00008

    authors: Nogami H,Oohira A,Suzuki F,Tsuda K

    更新日期:1981-04-01 00:00:00

  • Cerebral O2 supply thresholds for the preservation of electrocortical brain activity during hypotension in near-term-born lambs.

    abstract::The fetal brain develops rapidly during the last trimester of pregnancy. Therefore, the brain of infants who are born preterm is vulnerable to changes in oxygen and nutrient supply in the neonatal period. The objective was to determine the effect of gestational age (GA) on the cerebral O2 supply threshold level for pr...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.PDR.0000153673.00627.F4

    authors: van Os S,Liem D,Hopman J,Klaessens J,van de Bor M

    更新日期:2005-03-01 00:00:00

  • The effect of hyperoxic exposure on antioxidant enzyme activities of alveolar type II cells in neonatal and adult rats.

    abstract::Neonatal animals of several species are more tolerant of hyperoxic exposure than are adults, but the mechanisms of increased neonatal tolerance are unknown, as are the cell types, if any, that contribute to oxygen resistance. We studied the effect of in vivo exposure to 85% oxygen for 72 h on the activities of the ant...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-199205000-00005

    authors: Keeney SE,Cress SE,Brown SE,Bidani A

    更新日期:1992-05-01 00:00:00

  • Changes in 5alpha-pregnane steroids and neurosteroidogenic enzyme expression in fetal sheep with umbilicoplacental embolization.

    abstract::Pregnane steroids have sedative and neuroprotective effects on the brain, due to interactions with the steroid-binding site of the GABAA receptor. In the adult brain, synthesis of the pregnane steroids is increased in response to stress. Therefore, we have used umbilicoplacental embolization to mimic chronic placental...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.PDR.0000088066.47755.36

    authors: Nguyen PN,Billiards SS,Walker DW,Hirst JJ

    更新日期:2003-12-01 00:00:00

  • Lipoprotein particles in patients with pediatric Cushing disease and possible cardiovascular risks.

    abstract:BACKGROUND:Cardiovascular (CV) complications are the most significant cause of mortality in adults with Cushing disease (CD); little is known about CV risk factors in children with CD. Measurement of lipoprotein particles by nuclear magnetic resonance (NMR) spectroscopy is a novel technology to assess CV risk. The obje...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1038/s41390-019-0438-0

    authors: Makri A,Cheung A,Sinaii N,Remaley AT,Sampson M,Keil M,Belyavskaya E,Lyssikatos C,De La Luz Sierra M,Stratakis CA,Lodish M

    更新日期:2019-09-01 00:00:00

  • Phytol and peroxisome proliferation.

    abstract::Infantile Refsum's disease is characterized by high levels of phytanic acid and the absence of normal hepatic peroxisomes. We investigated the in vivo influence of phytol, a precursor of phytanic acid, on peroxisomes by both biochemical and morphological methods. Enhanced supply of phytol in the diet of adult mice cau...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198605000-00007

    authors: Van den Branden C,Vamecq J,Wybo I,Roels F

    更新日期:1986-05-01 00:00:00

  • The effects of low protein during gestation on mouse pancreatic development and beta cell regeneration.

    abstract::Beta cells are partially replaced in neonatal rodents after deletion with streptozotocin (STZ). Exposure of pregnant rats to a low protein (LP) diet impairs endocrine pancreas development in the offspring, leading to glucose intolerance in adulthood. Our objective was to determine whether protein restriction has a sim...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e3181e17c90

    authors: Cox AR,Gottheil SK,Arany EJ,Hill DJ

    更新日期:2010-07-01 00:00:00