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Abnormal dense tubular system

MedGen UID:
868487
•Concept ID:
C4022881
•
Anatomical Abnormality
HPO: HP:0012491

Definition

An anomaly of the intracellular membrane complexes known as the dense tubular system. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal dense tubular system

Recent clinical studies

Etiology

An Automated Imaging-Based Screen for Genetic Modulators of ER Organisation in Cultured Human Cells.
Garcia-Pardo ME, Simpson JC, O'Sullivan NC
Cells 2024 Mar 26;13(7) doi: 10.3390/cells13070577. PMID: 38607016Free PMC Article
Effect of homocysteine on calcium mobilization and platelet function in type 2 diabetes mellitus.
Alexandru N, Jardín I, Popov D, Simionescu M, García-Estañ J, Salido GM, Rosado JA
J Cell Mol Med 2008 Oct;12(5B):2015-26. doi: 10.1111/j.1582-4934.2008.00200.x. PMID: 19012728Free PMC Article
Effect of homocysteine on calcium mobilization and platelet function in type 2 diabetes mellitus.
Alexandru N, Jardín I, Popov D, Simionescu M, García-Estañ J, Salido GM, Rosado JA
J Cell Mol Med 2008 Dec;12(6B):2586-97. doi: 10.1111/j.1582-4934.2008.00195.x. PMID: 18088391Free PMC Article
A 'touch' of the White platelet syndrome.
White JG, Key NS, King RA, Vercellotti GM
Platelets 2005 Sep;16(6):346-61. doi: 10.1080/09537100500124376. PMID: 16194865

Diagnosis

Electron microscopic findings can support multiple etiologies of nephrotoxicity in renal tubules.
Zhang PL, Pancioli T, Li W, Kanaan HD
Ultrastruct Pathol 2020 Nov 20;44(4-6):481-488. Epub 2020 Nov 1 doi: 10.1080/01913123.2020.1839152. PMID: 33131373
Effect of homocysteine on calcium mobilization and platelet function in type 2 diabetes mellitus.
Alexandru N, Jardín I, Popov D, Simionescu M, García-Estañ J, Salido GM, Rosado JA
J Cell Mol Med 2008 Oct;12(5B):2015-26. doi: 10.1111/j.1582-4934.2008.00200.x. PMID: 19012728Free PMC Article
Effect of homocysteine on calcium mobilization and platelet function in type 2 diabetes mellitus.
Alexandru N, Jardín I, Popov D, Simionescu M, García-Estañ J, Salido GM, Rosado JA
J Cell Mol Med 2008 Dec;12(6B):2586-97. doi: 10.1111/j.1582-4934.2008.00195.x. PMID: 18088391Free PMC Article
Morphological study of congenital megaureter.
Vlad M, Ionescu N, Ispas AT, Ungureanu E, Stoica C
Rom J Morphol Embryol 2007;48(4):381-90. PMID: 18060188
Essential thrombocythaemia.
Woodruff RK, Bell WR, Castaldi PA, Streatfield K, Penington DG
Haemostasis 1980;9(2):105-25. doi: 10.1159/000214347. PMID: 7358318

Therapy

Anti-Thrombotic Effects of Artesunate through Regulation of cAMP and PI3K/MAPK Pathway on Human Platelets.
Yoon SS, Kwon HW, Shin JH, Rhee MH, Park CE, Lee DH
Int J Mol Sci 2022 Jan 29;23(3) doi: 10.3390/ijms23031586. PMID: 35163507Free PMC Article
Electron microscopic findings can support multiple etiologies of nephrotoxicity in renal tubules.
Zhang PL, Pancioli T, Li W, Kanaan HD
Ultrastruct Pathol 2020 Nov 20;44(4-6):481-488. Epub 2020 Nov 1 doi: 10.1080/01913123.2020.1839152. PMID: 33131373
Rapidly progressive silicon nephropathy.
Bolton WK, Suratt PM, Strugill BC
Am J Med 1981 Nov;71(5):823-8. doi: 10.1016/0002-9343(81)90374-0. PMID: 6272574
Essential thrombocythaemia.
Woodruff RK, Bell WR, Castaldi PA, Streatfield K, Penington DG
Haemostasis 1980;9(2):105-25. doi: 10.1159/000214347. PMID: 7358318

Prognosis

Mesangiocapillary glomerulonephritis with dense "deposits" in the basement membranes of the kidney.
Vargas R, Thomson KJ, Wilson D, Cameron JS, Turner DR, Gill D, Chantler C, Ogg CS
Clin Nephrol 1976 Feb;5(2):73-82. PMID: 767025

Clinical prediction guides

An Automated Imaging-Based Screen for Genetic Modulators of ER Organisation in Cultured Human Cells.
Garcia-Pardo ME, Simpson JC, O'Sullivan NC
Cells 2024 Mar 26;13(7) doi: 10.3390/cells13070577. PMID: 38607016Free PMC Article
Platelet pathology in sex-linked GATA-1 dyserythropoietic macrothrombocytopenia I ultrastructure.
White JG, Nichols WL, Steensma DP
Platelets 2007 Jun;18(4):273-83. doi: 10.1080/09537100601065825. PMID: 17538848
A 'touch' of the White platelet syndrome.
White JG, Key NS, King RA, Vercellotti GM
Platelets 2005 Sep;16(6):346-61. doi: 10.1080/09537100500124376. PMID: 16194865
An ultrastructural basis for electrocardiographic alterations associated with Duchenne's progressive muscular dystrophy.
Sanyal SK, Johnson WW, Thapar MK, Pitner SE
Circulation 1978 Jun;57(6):1122-9. doi: 10.1161/01.cir.57.6.1122. PMID: 639232
Static and functional morphology of the pathological platelets in primary myelofibrosis and myeloproliferative syndrome.
Hattori A, Koike K, Ito S, Matsuoka M
Ser Haematol 1975;8(1):126-50. PMID: 1129598

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