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A murine model of hereditary hemorrhagic telangiectasia.
Bourdeau A, Dumont DJ, Letarte M. Bourdeau A, et al. J Clin Invest. 1999 Nov;104(10):1343-51. doi: 10.1172/JCI8088. J Clin Invest. 1999. PMID: 10562296 Free PMC article.
To generate a disease model and ascertain the role of endoglin in development, we generated mice lacking 1 or both copies of the gene. ...
To generate a disease model and ascertain the role of endoglin in development, we generated mice lacking 1 or both copies of the gene …
Potential role of modifier genes influencing transforming growth factor-beta1 levels in the development of vascular defects in endoglin heterozygous mice with hereditary hemorrhagic telangiectasia.
Bourdeau A, Faughnan ME, McDonald ML, Paterson AD, Wanless IR, Letarte M. Bourdeau A, et al. Am J Pathol. 2001 Jun;158(6):2011-20. doi: 10.1016/s0002-9440(10)64673-1. Am J Pathol. 2001. PMID: 11395379 Free PMC article.
The disease is associated with haploinsufficiency and a murine model was obtained by engineering mice that express a single Endoglin allele. ...These data suggest that modifier genes involved in the regulation of TGF-beta1 expression act in combination with a
The disease is associated with haploinsufficiency and a murine model was obtained by engineering mice that express a single En …
Expression and function of CD105 during the onset of hematopoiesis from Flk1(+) precursors.
Cho SK, Bourdeau A, Letarte M, Zúñiga-Pflücker JC. Cho SK, et al. Blood. 2001 Dec 15;98(13):3635-42. doi: 10.1182/blood.v98.13.3635. Blood. 2001. PMID: 11739167
Several members of the transforming growth factor beta (TGF-beta) superfamily have been implicated as playing a role during mesoderm specification and hematopoiesis. ...The developmentally regulated expression of CD105 suggests that it may play a role during early h …
Several members of the transforming growth factor beta (TGF-beta) superfamily have been implicated as playing a role during mesoderm …
Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin.
Chan NL, Bourdeau A, Vera S, Abdalla S, Gross M, Wong J, Cymerman U, Paterson AD, Mullen B, Letarte M. Chan NL, et al. Placenta. 2004 Feb-Mar;25(2-3):208-17. doi: 10.1016/S0143-4004(03)00181-4. Placenta. 2004. PMID: 14972453
Thus, blood vessels from HHT1 individuals are maintained intact in the umbilical vein and placenta during pregnancy and delivery, despite a significant reduction in endoglin expression....
Thus, blood vessels from HHT1 individuals are maintained intact in the umbilical vein and placenta during pregnancy and delivery, despite …
Endoglin-deficient mice, a unique model to study hereditary hemorrhagic telangiectasia.
Bourdeau A, Faughnan ME, Letarte M. Bourdeau A, et al. Trends Cardiovasc Med. 2000 Oct;10(7):279-85. doi: 10.1016/s1050-1738(01)00062-7. Trends Cardiovasc Med. 2000. PMID: 11343967 Review.
Hereditary hemorrhagic telangiectasia (HHT) is a genetic vascular disorder characterized by dilated vessels and arteriovenous malformations. ...
Hereditary hemorrhagic telangiectasia (HHT) is a genetic vascular disorder characterized by dilated vessels and arteriovenous malform …
Analysis of endoglin expression in normal brain tissue and in cerebral arteriovenous malformations.
Matsubara S, Bourdeau A, terBrugge KG, Wallace C, Letarte M. Matsubara S, et al. Stroke. 2000 Nov;31(11):2653-60. doi: 10.1161/01.str.31.11.2653. Stroke. 2000. PMID: 11062290
BACKGROUND AND PURPOSE: A high incidence of arteriovenous malformations (AVMs) is associated with hereditary hemorrhagic telangiectasia type 1. ...Since endoglin is a component of the transforming growth factor-beta receptor complex critical for vascular development …
BACKGROUND AND PURPOSE: A high incidence of arteriovenous malformations (AVMs) is associated with hereditary hemorrhagic telangiectas …
Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1.
Bourdeau A, Cymerman U, Paquet ME, Meschino W, McKinnon WC, Guttmacher AE, Becker L, Letarte M. Bourdeau A, et al. Am J Pathol. 2000 Mar;156(3):911-23. doi: 10.1016/S0002-9440(10)64960-7. Am J Pathol. 2000. PMID: 10702408 Free PMC article.
We report the analysis of endoglin in tissues of a newborn (family 2), who died of a cerebral arteriovenous malformation (CAVM), and in a lung specimen surgically resected from a 78-year-old patient (family 5), with a pulmonary AVM (PAVM). ... …
We report the analysis of endoglin in tissues of a newborn (family 2), who died of a cerebral arteriovenous malformation (CAVM …
Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.
Cymerman U, Vera S, Pece-Barbara N, Bourdeau A, White RI Jr, Dunn J, Letarte M. Cymerman U, et al. Pediatr Res. 2000 Jan;47(1):24-35. doi: 10.1203/00006450-200001000-00008. Pediatr Res. 2000. PMID: 10625079
We report the analysis of umbilical vein endothelial cells in 28 newborns from 24 families with a clinical diagnosis of HHT. ...No mutant protein was expressed at the cell surface in any of these cases, and a transient intracellular species was seen in samples of on …
We report the analysis of umbilical vein endothelial cells in 28 newborns from 24 families with a clinical diagnosis of HHT. ...No mu …
Mapping epitopes to distinct regions of the extracellular domain of endoglin using bacterially expressed recombinant fragments.
Pichuantes S, Vera S, Bourdeau A, Pece N, Kumar S, Wayner EA, Letarte M. Pichuantes S, et al. Tissue Antigens. 1997 Sep;50(3):265-76. doi: 10.1111/j.1399-0039.1997.tb02870.x. Tissue Antigens. 1997. PMID: 9331949
Endoglin (CD105) is a homodimeric cell surface component of the TGF-beta 1 receptor complex, which is expressed at high levels on vascular endothelium and at lower levels on activated monocytes. ...To date, each family has a distinct endoglin mutation, most of which …
Endoglin (CD105) is a homodimeric cell surface component of the TGF-beta 1 receptor complex, which is expressed at high levels on vas …
Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D.
Balsan S, Garabédian M, Larchet M, Gorski AM, Cournot G, Tau C, Bourdeau A, Silve C, Ricour C. Balsan S, et al. J Clin Invest. 1986 May;77(5):1661-7. doi: 10.1172/JCI112483. J Clin Invest. 1986. PMID: 3009551 Free PMC article.
A 7-mo trial with calcium infusions led to correction of biochemical abnormalities and healing of rickets. Bone biopsies (n = 3) showed a normal mineralization and the disappearance of the osteomalacia. Cultures of bone-derived cells demonstrated a lack of ac
A 7-mo trial with calcium infusions led to correction of biochemical abnormalities and healing of rickets. Bone biopsies (n = 3) show
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