Literature DB >> 1864606

Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype.

D Bonneau1, J L Huret, G Godeau, D Couet, M Putterman, J Tanzer, P Babin, M Larrègue.   

Abstract

A 6-week-old girl presented with cutis laxa, emphysema, heart anomalies and a diaphragmatic hernia. She died at 22 weeks. A recurrent ctb(7)(q31.3) was found and the laminin gene was suspected to be involved in the disease. Anti-human laminin antiserum showed that this protein was absent from the skin. This case, together with 17 other similar cases, could represent a new type of connective tissue disease.

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Year:  1991        PMID： 1864606     DOI： 10.1007/bf00200911

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  20 in total

Review 1.  Structure and function of laminin: anatomy of a multidomain glycoprotein.

Authors:  K Beck; I Hunter; J Engel
Journal:  FASEB J       Date:  1990-02-01       Impact factor: 5.191

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Authors:  R Buchanan; G P Wyatt
Journal:  Arch Dis Child       Date:  1985-11       Impact factor: 3.791

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Journal:  Proc Natl Acad Sci U S A       Date:  1987-02       Impact factor: 11.205

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Authors:  Z Lababidi; C Monzon
Journal:  Am Heart J       Date:  1981-11       Impact factor: 4.749

6.  Two forms of cutis laxa presenting in the newborn period.

Authors:  A Agha; N O Sakati; M C Higginbottom; K L Jones; C Bay; W L Nyhan
Journal:  Acta Paediatr Scand       Date:  1978-11

7.  Congenital contractural arachnodactyly. Report of four additional families and review of literature.

Authors:  M A Ramos Arroyo; D D Weaver; R K Beals
Journal:  Clin Genet       Date:  1985-06       Impact factor: 4.438

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Authors:  J Jalaguier; F Montoya; P Sarda; L Teot; H Bonnet
Journal:  J Genet Hum       Date:  1985-12

9.  Pulmonary emphysema in a neonate with Marfan syndrome.

Authors:  D L Day; B A Burke
Journal:  Pediatr Radiol       Date:  1986

10.  [The Beals-Hecht syndrome (congenital contractural arachnodactyly) revealed in a neonate].

Authors:  N Philip; P Garcia-Meric; F Wernert
Journal:  Pediatrie       Date:  1988
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  9 in total

1.  Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse.

Authors:  Ganka Nikolova; Hane Lee; Suzanne Berkovitz; Stanley Nelson; Janet Sinsheimer; Eric Vilain; Larissa V Rodríguez
Journal:  Hum Genet       Date:  2006-10-05       Impact factor: 4.132

Review 2.  Genetic factors in congenital diaphragmatic hernia.

Authors:  A M Holder; M Klaassens; D Tibboel; A de Klein; B Lee; D A Scott
Journal:  Am J Hum Genet       Date:  2007-04-04       Impact factor: 11.025

3.  Physical mapping of the human T-cell receptor beta gene complex, using yeast artificial chromosomes.

Authors:  Y Hashim; I Ragoussis; L Kearney; S Tosi; A K So
Journal:  Immunogenetics       Date:  1995       Impact factor: 2.846

4.  Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome.

Authors:  A Superti-Furga; M Raghunath; P J Willems
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

5.  Fibrillin-1 in incisional hernias: an immunohistochemical study in scar and non-scar regions of human skin and muscle fasciae.

Authors:  Martin Fricke; Claus Langer; Edgar Brunner; Lynn Y Sakai; Laszlo Füzesi; Dieter P Reinhardt; Fabio Quondamatteo
Journal:  J Anat       Date:  2008-04-10       Impact factor: 2.610

6.  Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts.

Authors:  M Raghunath; A Superti-Furga; M Godfrey; B Steinmann
Journal:  Hum Genet       Date:  1993-01       Impact factor: 4.132

7.  laminin alpha 1 gene is essential for normal lens development in zebrafish.

Authors:  Natalya S Zinkevich; Dmitry V Bosenko; Brian A Link; Elena V Semina
Journal:  BMC Dev Biol       Date:  2006-03-07       Impact factor: 1.978

8.  The relationship between L-leucine-7-amido-4-methyl coumarin 1 gene polymorphism and susceptibility to the chronic hepatitis B virus infection in an Iranian population.

Authors:  Bita Moudi; Zahra Heidari; Hamidreza Mahmoudzadeh-Sagheb; Parisa Farrokh
Journal:  J Res Med Sci       Date:  2018-07-26       Impact factor: 1.852

9.  Cellular rescue in a zebrafish model of congenital muscular dystrophy type 1A.

Authors:  T E Hall; A J Wood; O Ehrlich; M Li; C S Sonntag; N J Cole; I G Huttner; T E Sztal; P D Currie
Journal:  NPJ Regen Med       Date:  2019-11-15
  9 in total

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