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Page 1
TGF-β Signaling in Control of Cardiovascular Function.
Goumans MJ, Ten Dijke P. Goumans MJ, et al. Cold Spring Harb Perspect Biol. 2018 Feb 1;10(2):a022210. doi: 10.1101/cshperspect.a022210. Cold Spring Harb Perspect Biol. 2018. PMID: 28348036 Free PMC article. Review.
Genetic studies in animals and humans indicate that gene mutations that functionally perturb transforming growth factor beta (TGF-beta) signaling are linked to specific hereditary vascular syndromes, including Osler-Rendu-Weber disease or hereditary hemorrhagic …
Genetic studies in animals and humans indicate that gene mutations that functionally perturb transforming growth factor beta (TGF-beta) sign …
Update on pulmonary arteriovenous malformations.
Salibe-Filho W, Oliveira FR, Terra-Filho M. Salibe-Filho W, et al. J Bras Pneumol. 2023 May 1;49(2):e20220359. doi: 10.36416/1806-3756/e20220359. eCollection 2023. J Bras Pneumol. 2023. PMID: 37132738 Free PMC article. Review.
The primary etiology of pulmonary arteriovenous malformations is hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, with mutations in the ENG gene on chromosome 9 (HHT type 1) or in the ACVRL1/ALK1 complex (HHT ty …
The primary etiology of pulmonary arteriovenous malformations is hereditary hemorrhagic telangiectasia (HHT), also know …
Pulmonary Vascular Complications in Hereditary Hemorrhagic Telangiectasia and the Underlying Pathophysiology.
Bofarid S, Hosman AE, Mager JJ, Snijder RJ, Post MC. Bofarid S, et al. Int J Mol Sci. 2021 Mar 27;22(7):3471. doi: 10.3390/ijms22073471. Int J Mol Sci. 2021. PMID: 33801690 Free PMC article. Review.
In this review, we discuss the role of transforming growth factor-beta (TGF-beta) in the development of pulmonary vascular disease (PVD), both pulmonary arteriovenous malformations (AVM) and pulmonary hypertension (PH), in hereditary hemorrhagic telangiectasia …
In this review, we discuss the role of transforming growth factor-beta (TGF-beta) in the development of pulmonary vascular disease (PVD), bo …
Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred.
McDonald JE, Miller FJ, Hallam SE, Nelson L, Marchuk DA, Ward KJ. McDonald JE, et al. Am J Med Genet. 2000 Aug 14;93(4):320-7. doi: 10.1002/1096-8628(20000814)93:4<320::aid-ajmg12>3.0.co;2-r. Am J Med Genet. 2000. PMID: 10946360 Review.
HHT type 2 (HHT 2) is a multi-system vascular dysplasia caused by a mutation in the ALK-1 gene, but the phenotype has not been well defined. ...This study shows that pulmonary, cerebral, spinal, and hepatic AVMs can all occur in HHT 2. It also adds to …
HHT type 2 (HHT 2) is a multi-system vascular dysplasia caused by a mutation in the ALK-1 gene, but the phenotype has n …
Pediatric Congenital Cerebrovascular Anomalies.
Goyal P, Mangla R, Gupta S, Malhotra A, Almast J, Sapire J, Kolar B. Goyal P, et al. J Neuroimaging. 2019 Mar;29(2):165-181. doi: 10.1111/jon.12575. Epub 2018 Oct 31. J Neuroimaging. 2019. PMID: 30378722 Review.
In a similar context, there may be familial association with multiple cavernous malformations and children with central nervous system vascular malformations may have an association with other vascular conditions, eg, hereditary hemorrhagic telangiectasia, et …
In a similar context, there may be familial association with multiple cavernous malformations and children with central nervous system vascu …
[Hereditary hemorrhagic telangiectasia].
Pérez del Molino A, Zarrabeitia R, Fernández A. Pérez del Molino A, et al. Med Clin (Barc). 2005 Apr 23;124(15):583-7. doi: 10.1157/13074142. Med Clin (Barc). 2005. PMID: 15860174 Review. Spanish.
Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu-Osler-Weber disease is a genetic disorder with a dominant autosomic transmission. ...Two different mutations have been described involving endoglin and ALK-1 genes, resulting in HHT type 1 and 2 …
Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu-Osler-Weber disease is a genetic disorder with a dominant autosomi …
[Case report of hereditary hemorrhagic telangiectasia in children and literature review].
Liu JR, Liu H, Wang B, Zhang YH, Xu H, Tang XL, Li HM, Zhao SY. Liu JR, et al. Zhonghua Er Ke Za Zhi. 2020 Aug 2;58(8):674-678. doi: 10.3760/cma.j.cn112140-20200415-00386. Zhonghua Er Ke Za Zhi. 2020. PMID: 32842389 Review. Chinese.
Objective: To analyze the clinical features of 2 children with hereditary hemorrhagic telangiectasia (HHT) and review relevant literature. ...Meanwhile, the relevant papers published before December 2019 in Wanfang and Pubmed database were searched wit …
Objective: To analyze the clinical features of 2 children with hereditary hemorrhagic telangiectasia (HHT) and r …
Endothelial cell biology of Endoglin in hereditary hemorrhagic telangiectasia.
Sugden WW, Siekmann AF. Sugden WW, et al. Curr Opin Hematol. 2018 May;25(3):237-244. doi: 10.1097/MOH.0000000000000419. Curr Opin Hematol. 2018. PMID: 29438260 Review.
PURPOSE OF REVIEW: Mutations in the Endoglin (Eng) gene, an auxiliary receptor in the transforming growth factor beta (TGFbeta)-superfamily signaling pathway, are responsible for the human vascular disorder hereditary hemorrhagic telangiectasia (HHT) type …
PURPOSE OF REVIEW: Mutations in the Endoglin (Eng) gene, an auxiliary receptor in the transforming growth factor beta (TGFbeta)-superfamily …
Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.
Dupuis-Girod S, Bailly S, Plauchu H. Dupuis-Girod S, et al. J Thromb Haemost. 2010 Jul;8(7):1447-56. doi: 10.1111/j.1538-7836.2010.03860.x. Epub 2010 Mar 19. J Thromb Haemost. 2010. PMID: 20345718 Free article. Review.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by severe and recurrent nosebleeds, mucocutaneous telangiectases, and, in some cases, life-threatening visceral arteriovenous malformations of various types, …
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by severe and recu …
Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures.
Sadick H, Sadick M, Götte K, Naim R, Riedel F, Bran G, Hörmann K. Sadick H, et al. Wien Klin Wochenschr. 2006 Mar;118(3-4):72-80. doi: 10.1007/s00508-006-0561-x. Wien Klin Wochenschr. 2006. PMID: 16703249 Review.
Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal dominant disorder of the fibrovascular tissue. ...The two known genes that are implicated in HHT are endoglin (ENG) located on chromosome 9q33-q34 and activi …
Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal dominant disorder …
38 results