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Literature DB >> 10954194

Pseudoxanthoma elasticum revealed.

F C Luft¹.

Abstract

Mesh：

Substances：

Year: 2000 PMID： 10954194 DOI： 10.1007/s001090000119

Source DB: PubMed Journal: J Mol Med (Berl) ISSN： 0946-2716 Impact factor: 4.599

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11 in total

1. Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice.

Authors: E Orsó; C Broccardo; W E Kaminski; A Böttcher; G Liebisch; W Drobnik; A Götz; O Chambenoit; W Diederich; T Langmann; T Spruss; M F Luciani; G Rothe; K J Lackner; G Chimini; G Schmitz
Journal: Nat Genet Date: 2000-02 Impact factor: 38.330

2. A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1.

Authors: S van Soest; J Swart; N Tijmes; L A Sandkuijl; J Rommers; A A Bergen
Journal: Genome Res Date: 1997-08 Impact factor: 9.043

3. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.

Authors: B Struk; K H Neldner; V S Rao; P St Jean; K Lindpaintner
Journal: Hum Mol Genet Date: 1997-10 Impact factor: 6.150

4. Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease.

Authors: M Lebwohl; J Halperin; R G Phelps
Journal: N Engl J Med Date: 1993-10-21 Impact factor: 91.245

5. Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 10-1983. Gastrointestinal bleeding with ocular and cutaneous abnormalities.

Authors:
Journal: N Engl J Med Date: 1983-03-10 Impact factor: 91.245

6. Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.

Authors: B Struk; L Cai; S Zäch; W Ji; J Chung; A Lumsden; M Stumm; M Huber; L Schaen; C A Kim; L A Goldsmith; D Viljoen; L E Figuera; W Fuchs; F Munier; R Ramesar; D Hohl; R Richards; K H Neldner; K Lindpaintner
Journal: J Mol Med (Berl) Date: 2000 Impact factor: 4.599

7. [Grönblad-Strandberg syndrome from the angiological viewpoint].

Authors: C Rühlmann; I Wittig; A Lochner; B Klötzer; B Wilke; M Mittag; D Pfeiffer
Journal: Dtsch Med Wochenschr Date: 1998-03-13 Impact factor: 0.628

Review 8. Function, evolution and structure of multidrug resistance protein (MRP).

Authors: R G Deeley; S P Cole
Journal: Semin Cancer Biol Date: 1997-06 Impact factor: 15.707

9. A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure.

Authors: L Cai; B Struk; M D Adams; W Ji; T Haaf; H L Kang; S H Dho; X Xu; F Ringpfeil; J Nancarrow; S Zäch; L Schaen; M Stumm; T Niu; J Chung; K Lunze; B Verrecchia; L A Goldsmith; D Viljoen; L E Figuera; W Fuchs; M Lebwohl; J Uitto; R Richards; D Hohl; R Ramesar
Journal: J Mol Med (Berl) Date: 2000 Impact factor: 4.599