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Items: 1 to 20 of 278

1.
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.
J N Berg, C J Gallione, T T Stenzel, D W Johnson, W P Allen, C E Schwartz, C E Jackson, M E Porteous, D A Marchuk
Am J Hum Genet. 1997 Jul; 61(1): 60–67. doi: 10.1086/513903
PMCID:
PMC1715857
SummaryPage BrowsePDF–1.4M
2.
ALK5- and TGFBR2-independent role of ALK1 in the pathogenesis of hereditary hemorrhagic telangiectasia type 2
Sung O. Park, Young Jae Lee, Tsugio Seki, Kwon-Ho Hong, Naime Fliess, Zhigang Jiang, Alice Park, Xiaofang Wu, Vesa Kaartinen, Beth L. Roman, S. Paul Oh
Blood. 2008 Jan 15; 111(2): 633–642. Prepublished online 2007 Oct 2. doi: 10.1182/blood-2007-08-107359
PMCID:
PMC2200847
AbstractArticle
3.
Generation of a Syngeneic Heterozygous ACVRL1(wt/mut) Knockout iPS Cell Line for the In Vitro Study of HHT2-Associated Angiogenesis
Li Xiang-Tischhauser, Michael Bette, Johanna R. Rusche, Katrin Roth, Norio Kasahara, Boris A. Stuck, Udo Bakowsky, Maria Wartenberg, Heinrich Sauer, Urban W. Geisthoff, Robert Mandic
Cells. 2023 Jun; 12(12): 1600. Published online 2023 Jun 10. doi: 10.3390/cells12121600
PMCID:
PMC10297623
AbstractArticlePDF–4.5M
4.
A Novel Splicing Mutation in the ACVRL1/ALK1 Gene as a Cause of HHT2
Suriel Errasti Díaz, Mercedes Peñalva, Lucía Recio-Poveda, Susana Vilches, Juan Casado-Vela, Julián Pérez Pérez, Luisa María Botella, Virginia Albiñana, Angel M. Cuesta
J Clin Med. 2022 Jun; 11(11): 3053. Published online 2022 May 28. doi: 10.3390/jcm11113053
PMCID:
PMC9181680
AbstractArticlePDF–1.9M
5.
Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient
Minsu Ha, Yoon Jae Kim, Kwang An Kwon, Ki Baik Hahm, Mi-Jung Kim, Dong Kyu Kim, Young Jae Lee, S Paul Oh
World J Gastroenterol. 2012 Apr 21; 18(15): 1840–1844. Published online 2012 Apr 21. doi: 10.3748/wjg.v18.i15.1840
PMCID:
PMC3332300
AbstractArticlePDF–820K
6.
Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2.
M Piantanida, E Buscarini, C Dellavecchia, A Minelli, A Rossi, L Buscarini, C Danesino
J Med Genet. 1996 Jun; 33(6): 441–443. doi: 10.1136/jmg.33.6.441
PMCID:
PMC1050627
SummaryPage BrowsePDF–456K
7.
Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans
Kyoko Kawasaki, Julia Freimuth, Dominique S. Meyer, Marie M. Lee, Akiko Tochimoto-Okamoto, Michael Benzinou, Frederic F. Clermont, Gloria Wu, Ritu Roy, Tom G. W. Letteboer, Johannes Kristian Ploos van Amstel, Sophie Giraud, Sophie Dupuis-Girod, Gaeten Lesca, Cornelius J. J. Westermann, Robert J. Coffey, Jr., Rosemary J. Akhurst
Proc Natl Acad Sci U S A. 2014 May 27; 111(21): 7723–7728. Published online 2014 May 8. doi: 10.1073/pnas.1318761111
PMCID:
PMC4040598
AbstractArticlePDF–961K
8.
Visceral manifestations in hereditary haemorrhagic telangiectasia type 2
S Abdalla, U Geisthoff, D Bonneau, H Plauchu, J McDonald, S Kennedy, M Faughnan, M Letarte
J Med Genet. 2003 Jul; 40(7): 494–502. doi: 10.1136/jmg.40.7.494
PMCID:
PMC1735537
SummaryPDF–254K
9.
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations
J Berg, M Porteous, D Reinhardt, C Gallione, S Holloway, T Umasunthar, A Lux, W McKinnon, D Marchuk, A Guttmacher
J Med Genet. 2003 Aug; 40(8): 585–590. doi: 10.1136/jmg.40.8.585
PMCID:
PMC1735540
SummaryPDF–172K
10.
The Saccharomyces cerevisiae Histone Chaperone Rtt106 Mediates the Cell Cycle Recruitment of SWI/SNF and RSC to the HIR-Dependent Histone Genes
Monica E. Ferreira, Kacie Flaherty, Philippe Prochasson
PLoS One. 2011; 6(6): e21113. Published online 2011 Jun 15. doi: 10.1371/journal.pone.0021113
PMCID:
PMC3115976
AbstractArticlePDF–566K
11.
Interaction between alk1 and blood flow in the development of arteriovenous malformations
Paola Corti, Sarah Young, Chia-Yuan Chen, Michael J. Patrick, Elizabeth R. Rochon, Kerem Pekkan, Beth L. Roman
Development. 2011 Apr 15; 138(8): 1573–1582. doi: 10.1242/dev.060467
PMCID:
PMC3062425
AbstractArticle
12.
Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler’s Disease, Uppsala University Hospital
Torbjörn Karlsson, Honar Cherif
Ups J Med Sci. 2018 Sep; 123(3): 153–157. Published online 2018 Sep 25. doi: 10.1080/03009734.2018.1483452
PMCID:
PMC6198721
AbstractArticlePDF–509K
13.
De novo cerebrovascular malformation in the adult mouse after endothelial Alk1 deletion and angiogenic stimulation
Wanqiu Chen, Zhengda Sun, Zhenying Han, Kristine Jun, Marine Camus, Mamta Wankhede, Lei Mao, Tom Arnold, William L. Young, Hua Su
Stroke. Author manuscript; available in PMC 2015 Mar 1.
Published in final edited form as: Stroke. 2014 Mar; 45(3): 900–902. Published online 2014 Jan 23. doi: 10.1161/STROKEAHA.113.003655
PMCID:
PMC4117234
AbstractArticlePDF–819K
14.
Alterations in DNA Replication and Histone Levels Promote Histone Gene Amplification in Saccharomyces cerevisiae
Diana E. Libuda, Fred Winston
Genetics. 2010 Apr; 184(4): 985–997. doi: 10.1534/genetics.109.113662
PMCID:
PMC2865932
AbstractArticlePDF–1.5M
15.
Hereditary Haemorrhagic Telangiectasia, an Inherited Vascular Disorder in Need of Improved Evidence-Based Pharmaceutical Interventions
Ryan O. Snodgrass, Timothy J. A. Chico, Helen M. Arthur
Genes (Basel) 2021 Feb; 12(2): 174. Published online 2021 Jan 27. doi: 10.3390/genes12020174
PMCID:
PMC7911152
AbstractArticlePDF–5.4M
16.
A negatively-charged residue in place of histone H3-K56 supports chromatin assembly factor association but not genotoxic stress resistance
Judith A. Erkmann, Paul D. Kaufman
DNA Repair (Amst) Author manuscript; available in PMC 2010 Dec 3.
Published in final edited form as: DNA Repair (Amst). 2009 Dec 3; 8(12): 1371–1379. Published online 2009 Sep 30. doi: 10.1016/j.dnarep.2009.09.004
PMCID:
PMC2787813
AbstractArticlePDF–1.5M
17.
Differential regulation of repeated histone genes during the fission yeast cell cycle
Yuko Takayama, Kohta Takahashi
Nucleic Acids Res. 2007 May; 35(10): 3223–3237. Published online 2007 Apr 22. doi: 10.1093/nar/gkm213
PMCID:
PMC1904272
AbstractArticlePDF–6.7M
18.
Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia
Sophie Giraud, Claire Bardel, Sophie Dupuis-Girod, Marie-France Carette, Brigitte Gilbert-Dussardier, Sophie Riviere, Jean-Christophe Saurin, Mélanie Eyries, Sylvie Patri, Evelyne Decullier, Alain Calender, Gaëtan Lesca
Orphanet J Rare Dis. 2020; 15: 254. Published online 2020 Sep 22. doi: 10.1186/s13023-020-01533-2
PMCID:
PMC7507685
AbstractArticlePDF–651K
19.
Functional Analysis of saxophone, the Drosophila Gene Encoding the BMP Type I Receptor Ortholog of Human ALK1/ACVRL1 and ACVR1/ALK2
Vern Twombly, Erdem Bangi, Viet Le, Bettina Malnic, Matthew A. Singer, Kristi A. Wharton
Genetics. 2009 Oct; 183(2): 563–579. doi: 10.1534/genetics.109.105585
PMCID:
PMC2766317
AbstractArticlePDF–1.9M
20.
Identification of Exosomal MicroRNA Signature by Liquid Biopsy in Hereditary Hemorrhagic Telangiectasia Patients
Ana Pozo-Agundo, Nerea Villaescusa, Jordi Martorell-Marugán, Olga Soriano, Socorro Leyva, Ana Belén Jódar-Reyes, Luisa María Botella, Pedro Carmona-Sáez, Francisco Javier Blanco
Int J Mol Sci. 2021 Sep; 22(17): 9450. Published online 2021 Aug 31. doi: 10.3390/ijms22179450
PMCID:
PMC8431573
AbstractArticlePDF–1.8M

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