128 related articles for article (PubMed ID: 34272483)
1. Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen.
Dhooge T; Syx D; Hermanns-Lê T; Hausser I; Mortier G; Zonana J; Symoens S; Byers PH; Malfait F
Genet Med; 2021 Dec; 23(12):2378-2385. PubMed ID: 34272483
[TBL] [Abstract][Full Text] [Related]
2. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
Malfait F; Symoens S; De Backer J; Hermanns-Lê T; Sakalihasan N; Lapière CM; Coucke P; De Paepe A
Hum Mutat; 2007 Apr; 28(4):387-95. PubMed ID: 17211858
[TBL] [Abstract][Full Text] [Related]
3. Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.
Kitaoka T; Miyoshi Y; Namba N; Miura K; Kubota T; Ohata Y; Fujiwara M; Takagi M; Hasegawa T; Jüppner H; Ozono K
Eur J Pediatr; 2014 Jun; 173(6):799-804. PubMed ID: 24390061
[TBL] [Abstract][Full Text] [Related]
4. Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta.
Makareeva E; Sun G; Mirigian LS; Mertz EL; Vera JC; Espinoza NA; Yang K; Chen D; Klein TE; Byers PH; Leikin S
PLoS One; 2018; 13(7):e0200264. PubMed ID: 29990383
[TBL] [Abstract][Full Text] [Related]
5. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
Gensure RC; Mäkitie O; Barclay C; Chan C; Depalma SR; Bastepe M; Abuzahra H; Couper R; Mundlos S; Sillence D; Ala Kokko L; Seidman JG; Cole WG; Jüppner H
J Clin Invest; 2005 May; 115(5):1250-7. PubMed ID: 15864348
[TBL] [Abstract][Full Text] [Related]
6. Type I procollagens containing substitutions of aspartate, arginine, and cysteine for glycine in the pro alpha 1 (I) chain are cleaved slowly by N-proteinase, but only the cysteine substitution introduces a kink in the molecule.
Lightfoot SJ; Holmes DF; Brass A; Grant ME; Byers PH; Kadler KE
J Biol Chem; 1992 Dec; 267(35):25521-8. PubMed ID: 1460046
[TBL] [Abstract][Full Text] [Related]
7. The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease).
Cho TJ; Moon HJ; Cho DY; Park MS; Lee DY; Yoo WJ; Chung CY; Choi IH
J Hum Genet; 2008; 53(10):947. PubMed ID: 18704262
[TBL] [Abstract][Full Text] [Related]
8. Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita.
Chan D; Rogers JF; Bateman JF; Cole WG
J Rheumatol Suppl; 1995 Feb; 43():37-8. PubMed ID: 7752132
[TBL] [Abstract][Full Text] [Related]
9. Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta.
Pace JM; Kuslich CD; Willing MC; Byers PH
J Med Genet; 2001 Jul; 38(7):443-9. PubMed ID: 11432962
[TBL] [Abstract][Full Text] [Related]
10. Expanding the phenotypic spectrum of Caffey disease.
Suphapeetiporn K; Tongkobpetch S; Mahayosnond A; Shotelersuk V
Clin Genet; 2007 Mar; 71(3):280-4. PubMed ID: 17309652
[TBL] [Abstract][Full Text] [Related]
11. A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases.
Pace JM; Chitayat D; Atkinson M; Wilcox WR; Schwarze U; Byers PH
J Med Genet; 2002 Jan; 39(1):23-9. PubMed ID: 11826020
[TBL] [Abstract][Full Text] [Related]
12. COL1A1 mutation in an Indian child with Caffey disease.
Ranganath P; Laine CM; Gupta D; Mäkitie O; Phadke SR
Indian J Pediatr; 2011 Jul; 78(7):877-9. PubMed ID: 21249479
[TBL] [Abstract][Full Text] [Related]
13. The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains.
de Vries WN; de Wet WJ
J Biol Chem; 1986 Jul; 261(19):9056-64. PubMed ID: 3722186
[TBL] [Abstract][Full Text] [Related]
14. Caffey disease: new perspectives on old questions.
Nistala H; Mäkitie O; Jüppner H
Bone; 2014 Mar; 60():246-51. PubMed ID: 24389367
[TBL] [Abstract][Full Text] [Related]
15. Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.
Steinmann B; Westerhausen A; Constantinou CD; Superti-Furga A; Prockop DJ
Biochem J; 1991 Nov; 279 ( Pt 3)(Pt 3):747-52. PubMed ID: 1953667
[TBL] [Abstract][Full Text] [Related]
16. COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing.
Barnes AM; Ashok A; Makareeva EN; Brusel M; Cabral WA; Weis M; Moali C; Bettler E; Eyre DR; Cassella JP; Leikin S; Hulmes DJS; Kessler E; Marini JC
Biochim Biophys Acta Mol Basis Dis; 2019 Sep; 1865(9):2210-2223. PubMed ID: 31055083
[TBL] [Abstract][Full Text] [Related]
17. Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate crystalline hydroxyapatite.
Culbert AA; Lowe MP; Atkinson M; Byers PH; Wallis GA; Kadler KE
Biochem J; 1995 Nov; 311 ( Pt 3)(Pt 3):815-20. PubMed ID: 7487936
[TBL] [Abstract][Full Text] [Related]
18. Recurrence of infantile cortical hyperostosis: a case report and review of the literature.
Navarre P; Pehlivanov I; Morin B
J Pediatr Orthop; 2013 Mar; 33(2):e10-7. PubMed ID: 23389580
[TBL] [Abstract][Full Text] [Related]
19. Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta.
Pace JM; Wiese M; Drenguis AS; Kuznetsova N; Leikin S; Schwarze U; Chen D; Mooney SH; Unger S; Byers PH
J Biol Chem; 2008 Jun; 283(23):16061-7. PubMed ID: 18375391
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]