Cargando…

Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys–Dietz Syndrome

Loeys–Dietz syndrome (LDS) is a rare connective tissue genetic disorder that is caused by a pathogenic variant in genes of transforming growth factor (TGF) beta receptor 1 (TGFBR1), TGFBR2, mothers against decapentaplegic homolog 2 (SMAD2), SMAD3, TGFB2, or TGFB3. It is characterized by aggressive v...

Descripción completa

Detalles Bibliográficos
Autores principales:	Luo, Xi, Deng, Shan, Jiang, Ying, Wang, Xiang, Al-raimi, Abdulrahman Mustafa Ahmed, Wu, Long, Liu, Xiaobin, Song, Yu, Chen, Xiao, Zhu, Feng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7266969/ https://www.ncbi.nlm.nih.gov/pubmed/32528524 http://dx.doi.org/10.3389/fgene.2020.00479

Ejemplares similares

Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome
por: Cozijnsen, Luc, et al.
Publicado: (2019)

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome
por: Zimmermann, Michael T., et al.
Publicado: (2017)

Surgical Outcome and Histological Differences between Individuals with TGFBR1 and TGFBR2 Mutations in Loeys-Dietz Syndrome
por: Seike, Yoshimasa, et al.
Publicado: (2021)

TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome
por: Singh, Krishna K, et al.
Publicado: (2012)

Valve-sparing aortic root replacement in Loeys-Dietz syndrome and a novel mutation in TGFBR2
por: Kasar, Taner, et al.
Publicado: (2018)

Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy
por: Disha, Kushtrim, et al.
Publicado: (2019)

A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene
por: Ha, Jung Sook, et al.
Publicado: (2011)

Gastric pseudoaneurysm in the setting of Loey's Dietz Syndrome
por: Likes, ML, et al.
Publicado: (2012)

Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1
por: Hara, Hironori, et al.
Publicado: (2019)

Unique Mechanism by Which TGFBR1 Variants Cause 2 Distinct System Diseases　― Loeys-Dietz Syndrome and Multiple Self-Healing Squamous Epithelioma ―
por: Fujiwara, Takayuki, et al.
Publicado: (2019)

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report
por: Baban, Anwar, et al.
Publicado: (2018)

Cerebral aneurysm in a patient with Loeys-Dietz syndrome
por: Zenteno, Marco, et al.
Publicado: (2014)

Loeys–Dietz syndrome: a primer for diagnosis and management
por: MacCarrick, Gretchen, et al.
Publicado: (2014)

Loeys-Dietz syndrome: Case report and review of the literature
por: Malyuk, David F., et al.
Publicado: (2021)

Loeys-Dietz Syndrome Complicated by Right Coronary Artery Pseudoaneurysm
por: Jawaid, Yasir, et al.
Publicado: (2018)

Unexplained Cardiovascular Collapse After Scoliosis Surgery in a Patient With Loeys-Dietz Syndrome
por: Al Ghamdi, Abdulrahman, et al.
Publicado: (2022)

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling
por: Cousin, Margot A., et al.
Publicado: (2017)

Giant vein graft aneurysm complicated by Loeys-Dietz syndrome
por: Kuma, Sosei, et al.
Publicado: (2015)

Massive ductal aneurysm in an asymptomatic child with Loeys-Dietz syndrome
por: Siddiqui, Saira, et al.
Publicado: (2021)

Evaluation of cervical spine pathology in children with Loeys-Dietz syndrome
por: Prablek, Marc Andrew, et al.
Publicado: (2022)

Orthopaedic Management of Loeys-Dietz Syndrome: A Systematic Review
por: Lynch, Conor P., et al.
Publicado: (2021)

Cleft Palate and Aortic Dilatation as Clues for Loeys–Dietz Syndrome
por: Zaza, Pierluigi, et al.
Publicado: (2022)

Multiple deep femoral artery aneurysms with Loeys-Dietz syndrome
por: Tanaka, Haruki, et al.
Publicado: (2022)

Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature
por: Baldo, Francesco, et al.
Publicado: (2022)

Valve Sparing Aortic Root Replacement in Children with Loeys-Dietz Syndrome
por: Sim, Hyung-Tae, et al.
Publicado: (2015)

Multiple Aortic Operations in Loeys-Dietz Syndrome: Report of 2 Cases
por: Na, Kwon Joong, et al.
Publicado: (2014)

Anterior Surgical Treatment of Scoliosis in a Patient With Loeys-Dietz Syndrome
por: Farshad, Mazda, et al.
Publicado: (2017)

Oxidant/Antioxidant Profile in the Thoracic Aneurysm of Patients with the Loeys-Dietz Syndrome
por: Soto, Maria Elena, et al.
Publicado: (2020)

Safety and outcome of gastrostomy tube placement in patients with Loeys-Dietz syndrome
por: Frischmeyer-Guerrerio, Pamela A., et al.
Publicado: (2020)

Coronary artery aneurysm in Loeys-Dietz syndrome: a case report
por: Jost, Zachary T., et al.
Publicado: (2022)

Case report of Loeys-Dietz syndrome presenting with coronary artery aneurysm
por: Nickol, Jennifer L, et al.
Publicado: (2022)

The relation of aortic dimensions and obesity in adults with Marfan or Loeys-Dietz syndrome
por: Suleiman, Mathieu N., et al.
Publicado: (2022)

Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys–Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations
por: Richter, John E., et al.
Publicado: (2019)

Hybrid Repair of a Thoraco-abdominal Aortic Aneurysm Associated with Loeys-Dietz Syndrome
por: Naiem, Ahmed A., et al.
Publicado: (2021)

Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report
por: Uike, Kiyoshi, et al.
Publicado: (2013)

A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome
por: Suh, Yoon Jung, et al.
Publicado: (2012)

Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation
por: Jani, Priyam, et al.
Publicado: (2020)

Mitral annulus disjunction is associated with adverse outcome in Marfan and Loeys–Dietz syndromes
por: Chivulescu, Monica, et al.
Publicado: (2020)

Frozen elephant trunk aortic reconstruction in a patient with Loeys-Dietz syndrome
por: Eldeiry, Mohamed, et al.
Publicado: (2022)

Thoracolumbar Scoliosis in Pediatric Patients With Loeys-Dietz Syndrome: A Case Series
por: LoPresti, Melissa A, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_l7k1jag769g0vqc4ckb7q6gg2v