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20 in total

1. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.

Authors: F Ringpfeil; M G Lebwohl; A M Christiano; J Uitto
Journal: Proc Natl Acad Sci U S A Date: 2000-05-23 Impact factor: 11.205

2. Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.

Authors: A Hinek; S E Wilson
Journal: Am J Pathol Date: 2000-03 Impact factor: 4.307

3. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.

Authors: M Tassabehji; K Metcalfe; J Hurst; G S Ashcroft; C Kielty; C Wilmot; D Donnai; A P Read; C J Jones
Journal: Hum Mol Genet Date: 1998-06 Impact factor: 6.150

Review 4. Molecular genetics and pathophysiology of Menkes disease.

Authors: H Kodama; Y Murata
Journal: Pediatr Int Date: 1999-08 Impact factor: 1.524

Review 5. Fibrillln mutations in Marfan syndrome and related phenotypes.

Authors: F Ramirez
Journal: Curr Opin Genet Dev Date: 1996-06 Impact factor: 5.578

Review 6. Elastin: molecular description and function.

Authors: L Debelle; A M Tamburro
Journal: Int J Biochem Cell Biol Date: 1999-02 Impact factor: 5.085

7. Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein.

Authors: A Hinek; A C Smith; E M Cutiongco; J W Callahan; K W Gripp; R Weksberg
Journal: Am J Hum Genet Date: 2000-03 Impact factor: 11.025

8. The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein.

Authors: S Privitera; C A Prody; J W Callahan; A Hinek
Journal: J Biol Chem Date: 1998-03-13 Impact factor: 5.157

Review 9. Williams-Beuren syndrome: genes and mechanisms.

Authors: U Francke
Journal: Hum Mol Genet Date: 1999 Impact factor: 6.150

10. Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).

Authors: M C Zhang; L He; M Giro; S L Yong; G E Tiller; J M Davidson
Journal: J Biol Chem Date: 1999-01-08 Impact factor: 5.157

5 in total

1. Elastic fibres are broadly distributed in tendon and highly localized around tenocytes.

Authors: Tyler M Grant; Mark S Thompson; Jill Urban; Jing Yu
Journal: J Anat Date: 2013-04-15 Impact factor: 2.610

2. Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.

Authors: Anna Caciotti; Tiziana Bardelli; John Cunningham; Alessandra D'Azzo; Enrico Zammarchi; Amelia Morrone
Journal: Hum Genet Date: 2003-03-19 Impact factor: 4.132

3. A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.

Authors: Zizhen Yao; Jochen C Jaeger; Walter L Ruzzo; Cecile Z Morale; Mary Emond; Uta Francke; Dianna M Milewicz; Stephen M Schwartz; Eileen R Mulvihill
Journal: BMC Genomics Date: 2007-09-12 Impact factor: 3.969

Review 4. Fibrillins in Tendon.

Authors: Betti Giusti; Guglielmina Pepe
Journal: Front Aging Neurosci Date: 2016-10-20 Impact factor: 5.750

5. Urological Problems in Patients with Menkes Disease.

Authors: Mi Young Kim; Ji Hyun Kim; Myung Hyun Cho; Young Hun Choi; Seong Heon Kim; Young Jae Im; Kwanjin Park; Hee Gyung Kang; Jong-Hee Chae; Hae Il Cheong
Journal: J Korean Med Sci Date: 2018-12-26 Impact factor: 5.354

5 in total