208 results on '"Syx, Delfien"'
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2. A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract
3. Sensory Profiling in Classical Ehlers-Danlos Syndrome: A Case-Control Study Revealing Pain Characteristics, Somatosensory Changes, and Impaired Pain Modulation
4. Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta
5. Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure
6. NRF2 Shortage in Human Skin Fibroblasts Dysregulates Matrisome Gene Expression and Affects Collagen Fibrillogenesis
7. Editorial: Ehlers-Danlos syndrome: from bedside to bench
8. Collagens in the Physiopathology of the Ehlers–Danlos Syndromes
9. Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen
10. Early mechanisms of aortic failure in a zebrafish model for thoracic aortic dissection and rupture
11. Collagens in the Physiopathology of the Ehlers–Danlos Syndromes
12. Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers–Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix
13. Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development
14. Analysis of matrisome expression patterns in murine and human dorsal root ganglia
15. Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers–Danlos syndrome
16. Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation
17. The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review
18. Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes
19. The matrisome of the murine and human dorsal root ganglion: a transcriptomal approach
20. Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : Further insights into the phenotypic spectrum and pathogenic mechanisms
21. Peripheral Mechanisms Contributing to Osteoarthritis Pain
22. Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6‐deficient spondylodysplastic Ehlers–Danlos syndrome
23. Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports
24. Exploring pain mechanisms in hypermobile Ehlers‐Danlos syndrome: A case–control study
25. Matrisome Expression in the Dorsal Root Ganglion
26. 756 - MATRISOME GENE CHANGES IN DORSAL ROOT GANGLIA IN MOUSE MODELS OF OSTEOARTHRITIS PAIN SUGGEST A ROLE FOR FIBROBLAST-NOCICEPTOR COMMUNICATION IN CHRONIC PAIN
27. The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism
28. Editorial: Ehlers-Danlos syndrome: from bedside to bench.
29. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
30. Pain in the Ehlers–Danlos syndromes: Mechanisms, models, and challenges
31. Animal Models of Ehlers–Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential
32. Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome
33. Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers–Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis
34. Further insights in the FKBP14-related kyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants
35. Isolated forearm mesomelic dysplasia caused by a genomic deletion encompassing the 2q31.1 HOXD gene cluster
36. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
37. Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6‐deficient spondylodysplastic Ehlers–Danlos syndrome.
38. More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
39. The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)
40. Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country
41. Loss of TANGO1 Leads to Absence of Bone Mineralization
42. b3galt6 Knock-Out Zebrafish Recapitulate β3GalT6-Deficiency Disorders in Human and Reveal a Trisaccharide Proteoglycan Linkage Region
43. More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
44. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
45. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
46. Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome
47. b3galt6knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region
48. Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency
49. 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
50. Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β
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