Zobrazeno 1 - 10
of 690
pro vyhledávání: '"ACVRL1"'
Publikováno v:
BMC Cardiovascular Disorders, Vol 23, Iss 1, Pp 1-7 (2023)
Abstract Background Noncompaction of ventricular myocardium(NVM) is a rare kind of cardiomyopathy associated with genetic mutations and nongenetic factors, among which the isolated right ventricular noncompaction (iRVNC) is the most rare type. ACVRL1
Externí odkaz:
https://doaj.org/article/685cc6203b2e488ca5e9b7c871f52485
Autor:
Kana Kitayama, Tomoya Ishiguro, Masaki Komiyama, Takayuki Morisaki, Hiroko Morisaki, Gaku Minase, Kohei Hamanaka, Satoko Miyatake, Naomichi Matsumoto, Masaru Kato, Toru Takahashi, Tohru Yorifuji
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
Abstract Background Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited vascular disorder characterized by recurrent epistaxis, skin/mucocutaneous telangiectasia, and organ/visceral arteriovenous malformations (AVM). HHT is mostly c
Externí odkaz:
https://doaj.org/article/bfec0ba19882459295a902b5d8841a68
Autor:
Bo-Gyeong Kim, Joo-hyun Jung, Mi-Jung Kim, Eun-Hye Moon, Jae-Hwan Oh, Jung-Woo Park, Heung-Eog Cha, Ju-Hyun Kim, Yoon-Jae Kim, Jun-Won Chung, Ki-Baik Hahm, Hong-Ryul Jin, Yong-Ju Jang, Sung Wan Kim, Seung-Kyu Chung, Dae-Woo Kim, Young Jae Lee, Seon-Tae Kim
Publikováno v:
Clinical and Experimental Otorhinolaryngology, Vol 14, Iss 4, Pp 399-406 (2021)
Objectives Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by recurrent epistaxis, telangiectasia, and visceral arteriovenous malformations (AVMs). Activin A receptor-like type 1 (ACVRL1/ALK1) and
Externí odkaz:
https://doaj.org/article/d419a3f8a8564f3faefb9b574f48524e
Publikováno v:
Pulmonary Circulation, Vol 11, Iss 4, Pp 1-8 (2021)
Pulmonary arterial hypertension is a kind of heart and lung vascular disease with low incidence and poor prognosis. Genetic variants are the important factors of pulmonary arterial hypertension. The mutations of activin receptor‐like kinase‐1 (AC
Externí odkaz:
https://doaj.org/article/4318f05fd86547bab7cee008646a58c0
Autor:
Helen M. Arthur, Beth L. Roman
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
Endoglin (ENG) is expressed on the surface of endothelial cells (ECs) where it efficiently binds circulating BMP9 and BMP10 ligands to initiate activin A receptor like type 1 (ALK1) protein signalling to protect the vascular architecture. Patients he
Externí odkaz:
https://doaj.org/article/f065b68a0ddf43599a521f00683d7ee0
Autor:
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
Publikováno v:
Cells, Vol 12, Iss 12, p 1600 (2023)
Hereditary hemorrhagic telangiectasia (HHT) type 2 is an autosomal dominant disease in which one allele of the ACVRL1 gene is mutated. Patients exhibit disturbances in TGF-beta/BMP-dependent angiogenesis and, clinically, often present with severe nos
Externí odkaz:
https://doaj.org/article/4b01ca7b45e547bd8bc65be3eb885068
Autor:
Anna Sbalchiero, Yasmin Abu Hweij, Tommaso Mazza, Elisabetta Buscarini, Claudia Scotti, Fabio Pagella, Guido Manfredi, Elina Matti, Giuseppe Spinozzi, Carla Olivieri
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 8, Pp n/a-n/a (2022)
Abstract Background Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder, affecting 1:5000 individuals worldwide. All the genes associated to the disease (ENG, ACVRL1, SMAD4, GDF2) belong to the TGF‐β/BMPs signali
Externí odkaz:
https://doaj.org/article/b2cd898aa1024bfa88a5643da360d082
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2022)
BackgroundGenetic variants could be identified in subjects with idiopathic and heritable pulmonary arterial hypertension (PAH). The 6th World Symposium on Pulmonary Hypertension (WSPH) provided a list of genes with evidence of association with PAH. H
Externí odkaz:
https://doaj.org/article/456145ef088f422eb411986357b6fe92
Autor:
Cristina Egido-Turrión, Elisa Rossi, Claudia Ollauri-Ibáñez, María L. Pérez-García, María A. Sevilla, José María Bastida, José Ramón González-Porras, Alicia Rodríguez-Barbero, Carmelo Bernabeu, José M. Lopez-Novoa, Miguel Pericacho
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal-dominant genetic disorder involving defects in two predominant genes known as endoglin (ENG; HHT-1) and activin receptor-like kinase 1 (ACVRL1/ALK1; HHT-2). It is characterized by mucocutane
Externí odkaz:
https://doaj.org/article/d9857183e7e549468b77a46d55d5f672
Publikováno v:
Turkish Journal of Hematology, Vol 38, Iss 3, Pp 241-243 (2021)
Externí odkaz:
https://doaj.org/article/281f506235c54db8823fb6e0f3042795