291 related articles for article (PubMed ID: 23664118)
21. Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS).
Bui C; Talhaoui I; Chabel M; Mulliert G; Coughtrie MW; Ouzzine M; Fournel-Gigleux S
FEBS Lett; 2010 Sep; 584(18):3962-8. PubMed ID: 20691685
[TBL] [Abstract][Full Text] [Related]
22. Deficiency of the core proteins of dermatan sulphate proteoglycans in a variant form of Ehlers-Danlos syndrome.
Fushimi H; Kameyama M; Shinkai H
J Intern Med; 1989 Dec; 226(6):409-16. PubMed ID: 2562251
[TBL] [Abstract][Full Text] [Related]
23. Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.
Horn D; Siebert E; Seidel U; Rost I; Mayer K; Abou Jamra R; Mitter D; Kornak U
Am J Med Genet A; 2017 Sep; 173(9):2534-2538. PubMed ID: 28742248
[TBL] [Abstract][Full Text] [Related]
24. Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
Blackburn PR; Xu Z; Tumelty KE; Zhao RW; Monis WJ; Harris KG; Gass JM; Cousin MA; Boczek NJ; Mitkov MV; Cappel MA; Francomano CA; Parisi JE; Klee EW; Faqeih E; Alkuraya FS; Layne MD; McDonnell NB; Atwal PS
Am J Hum Genet; 2018 Apr; 102(4):696-705. PubMed ID: 29606302
[TBL] [Abstract][Full Text] [Related]
25.
Delbaere S; De Clercq A; Mizumoto S; Noborn F; Bek JW; Alluyn L; Gistelinck C; Syx D; Salmon PL; Coucke PJ; Larson G; Yamada S; Willaert A; Malfait F
Front Cell Dev Biol; 2020; 8():597857. PubMed ID: 33363150
[TBL] [Abstract][Full Text] [Related]
26. Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
Malfait F; Syx D; Vlummens P; Symoens S; Nampoothiri S; Hermanns-Lê T; Van Laer L; De Paepe A
Hum Mutat; 2010 Nov; 31(11):1233-9. PubMed ID: 20842734
[TBL] [Abstract][Full Text] [Related]
27. Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.
Müller T; Mizumoto S; Suresh I; Komatsu Y; Vodopiutz J; Dundar M; Straub V; Lingenhel A; Melmer A; Lechner S; Zschocke J; Sugahara K; Janecke AR
Hum Mol Genet; 2013 Sep; 22(18):3761-72. PubMed ID: 23704329
[TBL] [Abstract][Full Text] [Related]
28. Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome.
Delbaere S; Van Damme T; Syx D; Symoens S; Coucke P; Willaert A; Malfait F
Matrix Biol; 2020 Jul; 89():59-75. PubMed ID: 31862401
[TBL] [Abstract][Full Text] [Related]
29. Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6-deficient spondylodysplastic Ehlers-Danlos syndrome.
Nikpour M; Noborn F; Nilsson J; Van Damme T; Kaye O; Syx D; Malfait F; Larson G
JIMD Rep; 2022 Sep; 63(5):462-467. PubMed ID: 36101818
[TBL] [Abstract][Full Text] [Related]
30. Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Baumann M; Giunta C; Krabichler B; Rüschendorf F; Zoppi N; Colombi M; Bittner RE; Quijano-Roy S; Muntoni F; Cirak S; Schreiber G; Zou Y; Hu Y; Romero NB; Carlier RY; Amberger A; Deutschmann A; Straub V; Rohrbach M; Steinmann B; Rostásy K; Karall D; Bönnemann CG; Zschocke J; Fauth C
Am J Hum Genet; 2012 Feb; 90(2):201-16. PubMed ID: 22265013
[TBL] [Abstract][Full Text] [Related]
31. Genetic defects in proteoglycan biosynthesis.
Quentin-Hoffmann E; Harrach B; Robenek H; Kresse H
Padiatr Padol; 1993; 28(1):37-41. PubMed ID: 8446427
[TBL] [Abstract][Full Text] [Related]
32. Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.
Vorster AA; Beighton P; Ramesar RS
Clin Genet; 2015 May; 87(5):492-5. PubMed ID: 24766538
[TBL] [Abstract][Full Text] [Related]
33. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.
Guo MH; Stoler J; Lui J; Nilsson O; Bianchi DW; Hirschhorn JN; Dauber A
Am J Med Genet A; 2013 Oct; 161A(10):2519-27. PubMed ID: 23956117
[TBL] [Abstract][Full Text] [Related]
34. Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
Mizumoto S; Kosho T; Hatamochi A; Honda T; Yamaguchi T; Okamoto N; Miyake N; Yamada S; Sugahara K
Clin Biochem; 2017 Aug; 50(12):670-677. PubMed ID: 28238810
[TBL] [Abstract][Full Text] [Related]
35. Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.
Mizumoto S; Kosho T; Yamada S; Sugahara K
Pharmaceuticals (Basel); 2017 Mar; 10(2):. PubMed ID: 28346368
[TBL] [Abstract][Full Text] [Related]
36. The Specific Role of Dermatan Sulfate as an Instructive Glycosaminoglycan in Tissue Development.
Mizumoto S; Yamada S
Int J Mol Sci; 2022 Jul; 23(13):. PubMed ID: 35806490
[TBL] [Abstract][Full Text] [Related]
37. The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation.
Ni X; Jin C; Jiang Y; Wang O; Li M; Xing X; Xia W
BMC Med Genet; 2020 Oct; 21(1):214. PubMed ID: 33129265
[TBL] [Abstract][Full Text] [Related]
38. CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.
Kosho T
Pediatr Int; 2016 Feb; 58(2):88-99. PubMed ID: 26646600
[TBL] [Abstract][Full Text] [Related]
39. Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient.
Minatogawa M; Hirose T; Mizumoto S; Yamaguchi T; Nagae C; Taki M; Yamada S; Watanabe T; Kosho T
Hum Mutat; 2022 Dec; 43(12):1829-1836. PubMed ID: 35842784
[TBL] [Abstract][Full Text] [Related]
40. Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.
Ritelli M; Dordoni C; Cinquina V; Venturini M; Calzavara-Pinton P; Colombi M
Orphanet J Rare Dis; 2017 Sep; 12(1):153. PubMed ID: 28882145
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]