Literature DB >> 8571963

Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis.

E Chung1, D Curtis, G Chen, P A Marsden, R Twells, W Xu, M Gardiner.   

Abstract

The etiological role of the gene for neuronal nitric oxide synthase (NOS1) in infantile pyloric stenosis (PS) was investigated by analysis of two intragenic polymorphisms (NOS1a and NOS1b) in 27 families. There was significant overall transmission disequilibrium between PS and NOS1a (P = .006). Consideration of each allele independently revealed a highly significant tendency for allele 7 (210 bp) to be preferentially transmitted to the affected offspring (P = .0006). These observations suggest that NOS1 is a susceptibility locus for PS.

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8571963      PMCID： PMC1914525     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  33 in total

1.  Increasing incidence of hypertrophic pyloric stenosis.

Authors:  P K Tam; J Chan
Journal:  Arch Dis Child       Date:  1991-04       Impact factor: 3.791

2.  Neuronal NADPH diaphorase is a nitric oxide synthase.

Authors:  B T Hope; G J Michael; K M Knigge; S R Vincent
Journal:  Proc Natl Acad Sci U S A       Date:  1991-04-01       Impact factor: 11.205

Review 3.  Nitric oxide synthase structure and mechanism.

Authors:  M A Marletta
Journal:  J Biol Chem       Date:  1993-06-15       Impact factor: 5.157

4.  Genetic analyses of pyloric stenosis suggesting a specific maternal effect.

Authors:  K K Kidd; M A Spence
Journal:  J Med Genet       Date:  1976-08       Impact factor: 6.318

5.  Inheritance of congenital pyloric stenosis.

Authors:  C O Carter; K A Evans
Journal:  J Med Genet       Date:  1969-09       Impact factor: 6.318

6.  Relationship between nitric oxide and vasoactive intestinal polypeptide in enteric inhibitory neurotransmission.

Authors:  K D Keef; C W Shuttleworth; C Xue; O Bayguinov; N G Publicover; K M Sanders
Journal:  Neuropharmacology       Date:  1994-11       Impact factor: 5.250

7.  Infantile hypertrophic pyloric stenosis in Belfast, 1957-1969.

Authors:  J A Dodge
Journal:  Arch Dis Child       Date:  1975-03       Impact factor: 3.791

8.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

9.  Nitric oxide as an inhibitory non-adrenergic non-cholinergic neurotransmitter.

Authors:  H Bult; G E Boeckxstaens; P A Pelckmans; F H Jordaens; Y M Van Maercke; A G Herman
Journal:  Nature       Date:  1990-05-24       Impact factor: 49.962

10.  Regional localization of the gene coding for human brain nitric oxide synthase (NOS1) to 12q24.2-->24.31 by fluorescent in situ hybridization.

Authors:  W Xu; P Gorman; D Sheer; G Bates; J Kishimoto; L Lizhi; P Emson
Journal:  Cytogenet Cell Genet       Date:  1993
View more
  21 in total

1.  A case of Menkes syndrome with pyloric stenosis: an effect of copper deficiency on NOS1?

Authors:  S Cunningham; P M Crofton; T G Marshall; D R Fitzpatrick
Journal:  J Inherit Metab Dis       Date:  1999-04       Impact factor: 4.982

Review 2.  Infantile hypertrophic pyloric stenosis--genetics and syndromes.

Authors:  Babette Peeters; Marc A Benninga; Raoul C M Hennekam
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2012-07-10       Impact factor: 46.802

3.  Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity.

Authors:  Francesca Capon; Ashley Reece; Rathi Ravindrarajah; Eddie Chung
Journal:  Am J Hum Genet       Date:  2006-06-07       Impact factor: 11.025

4.  Genetic absence of nNOS worsens fetal alcohol effects in mice. II: microencephaly and neuronal losses.

Authors:  Bahri Karacay; Jo Mahoney; Jeffrey Plume; Daniel J Bonthius
Journal:  Alcohol Clin Exp Res       Date:  2015-02-09       Impact factor: 3.455

5.  Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.

Authors:  Kate V Everett; Barry A Chioza; Christina Georgoula; Ashley Reece; Francesca Capon; Keith A Parker; Cathy Cord-Udy; Paul McKeigue; Sally Mitton; Agostino Pierro; Prem Puri; Hannah M Mitchison; Eddie M K Chung; R Mark Gardiner
Journal:  Am J Hum Genet       Date:  2008-02-28       Impact factor: 11.025

6.  Regional Patterns of Alcohol-Induced Neuronal Loss Depend on Genetics: Implications for Fetal Alcohol Spectrum Disorder.

Authors:  Dylan Todd; Daniel J Bonthius; Lia Marie Sabalo; Jasmine Roghair; Bahri Karacay; Samantha Larimer Bousquet; Daniel J Bonthius
Journal:  Alcohol Clin Exp Res       Date:  2018-07-16       Impact factor: 3.455

7.  Association between NKX2-5 rs29784 and infantile hypertrophic pyloric stenosis in Chinese Han population.

Authors:  Zhiqiang Feng; Peizhi Liang; Qingning Li; Yuqiang Nie; Youxiang Zhang
Journal:  Int J Clin Exp Med       Date:  2015-02-15

8.  A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.

Authors:  Kate V Everett; Paris Ataliotis; Barry A Chioza; Charles Shaw-Smith; Eddie M K Chung
Journal:  Pediatr Res       Date:  2016-11-17       Impact factor: 3.756

Review 9.  New insights into the pathogenesis of infantile pyloric stenosis.

Authors:  Christina Panteli
Journal:  Pediatr Surg Int       Date:  2009-09-16       Impact factor: 1.827

10.  Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing.

Authors:  Kate V Everett; Barry A Chioza; Christina Georgoula; Ashley Reece; R Mark Gardiner; Eddie M K Chung
Journal:  Hum Genet       Date:  2009-12       Impact factor: 4.132
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.