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Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3  [PDF]
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
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0058830
Abstract: The FRAS1-related extracellular matrix 1 (FREM1) gene encodes an extracellular matrix protein that plays a critical role in the development of multiple organ systems. In humans, recessive mutations in FREM1 cause eye defects, congenital diaphragmatic hernia, renal anomalies and anorectal malformations including anteriorly placed anus. A similar constellation of findings–microphthalmia, cryptophthalmos, congenital diaphragmatic hernia, renal agenesis and rectal prolapse–have been described in FREM1-deficient mice. In this paper, we identify a homozygous Frem1 missense mutation (c.1687A>T, p.Ile563Phe) in an N-ethyl-N-nitrosourea (ENU)-derived mouse strain, crf11, with microphthalmia, cryptophthalmos, renal agenesis and rectal prolapse. This mutation affects a highly conserved residue in FREM1’s third CSPG domain. The p.Ile563Phe change is predicted to be deleterious and to cause decreased FREM1 protein stability. The crf11 allele also fails to complement the previously described eyes2 allele of Frem1 (p.Lys826*) providing further evidence that the crf11 phenotype is due to changes affecting Frem1 function. We then use mice bearing the crf11 and eyes2 alleles to identify lung lobulation defects and decreased anogenital distance in males as novel phenotypes associated with FREM1 deficiency in mice. Due to phenotypic overlaps between FREM1-deficient mice and mice that are deficient for the retinoic acid-responsive transcription factor GATA4 and the extracellular matrix protein SLIT3, we also perform experiments to look for in vivo genetic interactions between the genes that encode these proteins. These experiments reveal that Frem1 interacts genetically with Gata4 in the development of lung lobulation defects and with Slit3 in the development of renal agenesis. These results demonstrate that FREM1-deficient mice faithfully recapitulate many of the phenotypes seen in individuals with FREM1 deficiency and that variations in GATA4 and SLIT3 expression modulate some FREM1-related phenotypes in mice.
bfb, a Novel ENU-Induced blebs Mutant Resulting from a Missense Mutation in Fras1  [PDF]
Kerry A. Miller, Christopher T. Gordon, Megan F. Welfare, Georgina Caruana, John F. Bertram, John F. Bateman, Peter G. Farlie
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0076342
Abstract: Fras1 is an extracellular matrix associated protein with essential roles in adhesion of epithelia and mesenchyme during early embryonic development. The adhesive function of Fras1 is achieved through interaction with a group of related proteins, Frem 1–3, and a cytoplasmic adaptor protein Grip1. Mutation of each of these proteins results in characteristic epithelial blistering and have therefore become known as “blebs” proteins. Human Fraser syndrome presents with a similar phenotype and the blebs mice have been instrumental in identification of the genetic basis of Fraser syndrome. We have identified a new ENU-induced blebs allele resulting from a novel missense mutation in Fras1. The resulting mouse strain, blood filled blisters (bfb), presents with a classic blebs phenotype but does not exhibit embryonic lethality typical of other blebs mutants and in addition, we report novel palate and sternal defects. Analysis of the bfb phenotype confirms the presence of epithelial-mesenchymal adhesion defects but also supports the emerging role of blebs proteins in regulating signalling during organogenesis. The bfb strain provides new opportunities to investigate the role of Fras1 in development.
Genetic Analysis of Fin Development in Zebrafish Identifies Furin and Hemicentin1 as Potential Novel Fraser Syndrome Disease Genes  [PDF]
Thomas J. Carney ,Natália Martins Feitosa,Carmen Sonntag,Krasimir Slanchev,Johannes Kluger,Daiji Kiyozumi,Jan M. Gebauer,Jared Coffin Talbot,Charles B. Kimmel,Kiyotoshi Sekiguchi,Raimund Wagener,Heinz Schwarz,Phillip W. Ingham,Matthias Hammerschmidt
PLOS Genetics , 2010, DOI: 10.1371/journal.pgen.1000907
Abstract: Using forward genetics, we have identified the genes mutated in two classes of zebrafish fin mutants. The mutants of the first class are characterized by defects in embryonic fin morphogenesis, which are due to mutations in a Laminin subunit or an Integrin alpha receptor, respectively. The mutants of the second class display characteristic blistering underneath the basement membrane of the fin epidermis. Three of them are due to mutations in zebrafish orthologues of FRAS1, FREM1, or FREM2, large basement membrane protein encoding genes that are mutated in mouse bleb mutants and in human patients suffering from Fraser Syndrome, a rare congenital condition characterized by syndactyly and cryptophthalmos. Fin blistering in a fourth group of zebrafish mutants is caused by mutations in Hemicentin1 (Hmcn1), another large extracellular matrix protein the function of which in vertebrates was hitherto unknown. Our mutant and dose-dependent interaction data suggest a potential involvement of Hmcn1 in Fraser complex-dependent basement membrane anchorage. Furthermore, we present biochemical and genetic data suggesting a role for the proprotein convertase FurinA in zebrafish fin development and cell surface shedding of Fras1 and Frem2, thereby allowing proper localization of the proteins within the basement membrane of forming fins. Finally, we identify the extracellular matrix protein Fibrillin2 as an indispensable interaction partner of Hmcn1. Thus we have defined a series of zebrafish mutants modelling Fraser Syndrome and have identified several implicated novel genes that might help to further elucidate the mechanisms of basement membrane anchorage and of the disease's aetiology. In addition, the novel genes might prove helpful to unravel the molecular nature of thus far unresolved cases of the human disease.
Fraser Syndrome and Cryptophthalmos; A Case Report
N Khalesi,F Salehi,A Mohamadi Poor
Iranian Journal of Pediatrics , 2006,
Abstract: Objective: Fraser syndrome is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. The prevalence of FS was previously estimated to be approximately 11 cases in 100.000 live births.The inheritance is autosomal recessive. This is the first report of this syndrome in Iran. Case presentation: We present a 2 days old girl neonate with the chief complaint of unilateral cryptophthalmos (left side) and Fraser syndrome. The mains symptoms and signs of this patients were low set ears, abdominal distention and vomiting, naries closure, upper extremity, syndactyly and rectovestibular fistula. Sonography and ecchocardiography was done and a single right kidney in right upper quadrant and patent ductus arteriosus (PDA) were detected. The patient was operated with under total corrected anoplasty and was discharged with a good general condition. Conclusion: Fraser syndrome is a rare syndrome, but it must be suggested in craniofacial malformation especially cryptophthalmos.
Unilateral cryptophthalmos  [cached]
Gupta V,Sen D
Indian Journal of Ophthalmology , 1990,
Abstract: A rare case of unilateral cryptophthalmos have unique findings is reported. The lateral part of the left eye was replaced by downward extension of the frontal hairline. The left upper eyelid, except in the lateral 4mm fully developed portion, was replaced by a fold adherent to the underlying disorganized globe (6.9 mm). The lower lid, however, was fully developed. Ocular and systemic features of cryptophthalmos have been reviewed. Predilection for the left eye in unilateral cases has been hinted for the first time.
Pliny the elder on gilding
Ottavio Vittori
Gold Bulletin , 1979, DOI: 10.1007/BF03215105
Abstract: The description in Pliny’s ‘Natural History’ of gilding bronze by using mercury becomes clearer if it is seen as a process in which mercury is used only as an adhesive for the gold leaf and in which it is not necessary to heat the object after gilding to drive off the excess mercury as is the case in the more usual fire- or mercury-gilding. Laboratory experiments on the techniques of gilding and a study of the older literature support this new interpretation and emphasise the importance of the purity of the substrate metal.
Eratosthenes and Pliny, Greek geometry and Roman follies  [PDF]
Khristo N. Boyadzhiev
Mathematics , 2010,
Abstract: Supportive attitudes can bring to a blossoming science, while neglect can quickly make science absent from everyday life and provide a very primitive view of the world. We compare one important Greek achievement, the computation of the Earth meridian by Eratosthenes, to its later interpretation by the Roman historian of science Pliny.
Abusir: from Pliny the Elder to Google Maps  [PDF]
Amelia Carolina Sparavigna
Physics , 2011,
Abstract: Abusir, the House of Osiris, is the name given to an Egyptian necropolis of the Old Kingdom period. This site is a part of a huge area, from Giza to Dahshur, rich of archaeological remains and covered by many pyramids. The paper is reporting concisely some archaeological studies on Abusir. We start from the description given by Pliny the Elder and end proposing the use of Google Maps.
Moter paveikslai Plinijaus Lai kuose. Women characters in Pliny’s Letters“  [PDF]
Anna Maciūnien?
Literatura , 2011,
Abstract: This article proceeds the cycle of articles about characters in Pliny Letters“. Although male characters dominate and there are few women images in the Letters“, but Pliny represents every female character very carefully, showing their living, education, everyday cares. All characters of women, however, are dynamic, expressive and vivid. Representing women oftentimes are speechless and serve as examples, because their lives stories are incorporated in some letters. In the article they are sorted out into several types: girl, just married woman, mature married woman, single woman, widow. Assorting them it becomes obvious that these types show woman life in first century A.D. from her childhood until death.
Plinijaus Jaunesniojo lai kai: anro tradicija ir savitumas | Pliny’s Letters: tradition and originality of genre  [PDF]
Anna Maciūnien?
Literatura , 2007,
Abstract: The publication consists of the first published translation of several Pliny’s Letters into Lithuanian, accompanied by an article which analyses questions of literature and rhetoric. The style of Pliny’s letters is light and elegant. He discusses literatures and rhetoric position, as well as juridical, economical and cultural systems. In Letters the author surveys educational situations in ancient Rome, makes a point about historical works and different political characters, gives advice on how to be a good orator. Pliny’s Letters“ is a very important work in which it is possible to find all events and problems of the imperial Rome.
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