Literature DB >> 894443

Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome.

J W Delleman, E M Bleeker-Wagemakers, A W van Veelen.   

Abstract

Three families with a total of five patients with Lowe's syndrome are described. We tried to trace female heterozygotes by ophthalmological abnormalities in order to realize prevention of this serious X-chromosomal recessive disease. Of the fourteen female relatives examined, eight showed pathological opacities of the lens, two of these being proven heterozygotes. In our opinion, in Lowe's syndrome, examination of the eyes can play an important role in the detection of heterozygotes.

Entities:  

Mesh：

Year:  1977        PMID： 894443

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol        ISSN： 0022-345X


  7 in total

1.  A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1.

Authors:  Xiaomin Hou; Nina Hagemann; Stefan Schoebel; Wulf Blankenfeldt; Roger S Goody; Kai S Erdmann; Aymelt Itzen
Journal:  EMBO J       Date:  2011-03-04       Impact factor: 11.598

2.  Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.

Authors:  Laura E Swan; Livia Tomasini; Michelle Pirruccello; Joël Lunardi; Pietro De Camilli
Journal:  Proc Natl Acad Sci U S A       Date:  2010-02-02       Impact factor: 11.205

3.  [Clinical and genetic results with reference to corneal alterations in Lowe-syndrome].

Authors:  G Rudolph; P Kalpadakis; W Röschinger; C Haritoglou; S Kammerer; K-P Boergen; A Kampik
Journal:  Ophthalmologe       Date:  2004-06       Impact factor: 1.059

Review 4.  Biochemical studies on Lowe's syndrome.

Authors:  I Yamashina; H Yoshida; S Fukui; I Funakoshi
Journal:  Mol Cell Biochem       Date:  1983       Impact factor: 3.396

5.  Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome.

Authors:  H M Hittner; A J Carroll; J T Prchal
Journal:  Am J Hum Genet       Date:  1982-11       Impact factor: 11.025

6.  Recognition of the F&H motif by the Lowe syndrome protein OCRL.

Authors:  Michelle Pirruccello; Laura E Swan; Ewa Folta-Stogniew; Pietro De Camilli
Journal:  Nat Struct Mol Biol       Date:  2011-06-12       Impact factor: 15.369

7.  A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.

Authors:  Ramiro Nández; Daniel M Balkin; Mirko Messa; Liang Liang; Summer Paradise; Heather Czapla; Marco Y Hein; James S Duncan; Matthias Mann; Pietro De Camilli
Journal:  Elife       Date:  2014-08-08       Impact factor: 8.140
  7 in total

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