Literature DB >> 6793660

Head blebs: a new mutation on chromosome 4 of the mouse.

D S Varnum, S C Fox.   

Abstract

The development effects and inheritance of a new mutation in the mouse, head blebs, gene symbol heb, are described. This mutation is similar to two other autosomal recessive mutations, eb and my. Head blebs produces abnormal or missing eyes due to prenatal blebs, usually on the head, some fetal death, open eyelids, and folded retinas at birth. Extra toes or ectopic brains are occasionally observed. Affected adults usually have closed eyelids and atrophic eyes. Head blebs is located on chromosome 4, four units from pintail (Pt).

Entities:  

Mesh:

Year:  1981        PMID: 6793660     DOI: 10.1093/oxfordjournals.jhered.a109505

Source DB:  PubMed          Journal:  J Hered        ISSN: 0022-1503            Impact factor:   2.645


  10 in total

Review 1.  Mouse chromosome 4.

Authors:  C M Abbott; R Blank; J T Eppig; J M Friedman; K E Huppi; I Jackson; B A Mock; J Stoye; R Wiseman
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

Review 2.  Mouse chromosome 4.

Authors:  R Blank; J Eppig; F T Fiedorek; W N Frankel; J M Friedman; K Huppi; I Jackson; B Mock
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

3.  Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.

Authors:  Daiji Kiyozumi; Nagisa Sugimoto; Kiyotoshi Sekiguchi
Journal:  Proc Natl Acad Sci U S A       Date:  2006-07-31       Impact factor: 11.205

4.  Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Authors:  Anne M Slavotinek; Sergio E Baranzini; Denny Schanze; Cassandre Labelle-Dumais; Kieran M Short; Ryan Chao; Mani Yahyavi; Emilia K Bijlsma; Catherine Chu; Stacey Musone; Ashleigh Wheatley; Pui-Yan Kwok; Sandra Marles; Jean-Pierre Fryns; A Murat Maga; Mohamed G Hassan; Douglas B Gould; Lohith Madireddy; Chumei Li; Timothy C Cox; Ian Smyth; Albert E Chudley; Martin Zenker
Journal:  J Med Genet       Date:  2011-04-20       Impact factor: 6.318

5.  Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

Authors:  Tyler F Beck; Danielle Veenma; Oleg A Shchelochkov; Zhiyin Yu; Bum Jun Kim; Hitisha P Zaveri; Yolande van Bever; Sunju Choi; Hannie Douben; Terry K Bertin; Pragna I Patel; Brendan Lee; Dick Tibboel; Annelies de Klein; David W Stockton; Monica J Justice; Daryl A Scott
Journal:  Hum Mol Genet       Date:  2012-12-05       Impact factor: 6.150

6.  The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis.

Authors:  Ian Smyth; Xin Du; Martin S Taylor; Monica J Justice; Bruce Beutler; Ian J Jackson
Journal:  Proc Natl Acad Sci U S A       Date:  2004-09-02       Impact factor: 11.205

7.  FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

Authors:  Anas M Alazami; Ranad Shaheen; Fatema Alzahrani; Katie Snape; Anand Saggar; Bernd Brinkmann; Prashant Bavi; Lihadh I Al-Gazali; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2009-09       Impact factor: 11.025

8.  Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

Authors:  Lisenka E L M Vissers; Timothy C Cox; A Murat Maga; Kieran M Short; Fenny Wiradjaja; Irene M Janssen; Fernanda Jehee; Debora Bertola; Jia Liu; Garima Yagnik; Kiyotoshi Sekiguchi; Daiji Kiyozumi; Hans van Bokhoven; Carlo Marcelis; Michael L Cunningham; Peter J Anderson; Simeon A Boyadjiev; Maria Rita Passos-Bueno; Joris A Veltman; Ian Smyth; Michael F Buckley; Tony Roscioli
Journal:  PLoS Genet       Date:  2011-09-08       Impact factor: 5.917

9.  Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.

Authors:  Robertino Karlo Mateo; Royce Johnson; Ordan J Lehmann
Journal:  Mol Vis       Date:  2012-05-30       Impact factor: 2.367

10.  Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.

Authors:  Tyler F Beck; Oleg A Shchelochkov; Zhiyin Yu; Bum Jun Kim; Andrés Hernández-García; Hitisha P Zaveri; Colin Bishop; Paul A Overbeek; David W Stockton; Monica J Justice; Daryl A Scott
Journal:  PLoS One       Date:  2013-03-11       Impact factor: 3.240

  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.