Gene: TGFBR1

Alternate names for this Gene: AAT5|ACVRLK4|ALK-5|ALK5|ESS1|LDS1|LDS1A|LDS2A|MSSE|SKR4|TBR-i|TBRI|TGFR-1|tbetaR-I

Gene Summary: The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 9

Location in Chromosome : 9q22.33

Description of this Gene: transforming growth factor beta receptor 1

Type of Gene: protein-coding

rs334353 in TGFBR1 gene and Age related macular degeneration PMID 23455636 2013 Seven new loci associated with age-related macular degeneration.

rs1564161224 in TGFBR1 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 30675029 2019 Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.

rs111426349 in TGFBR1 gene and Familial thoracic aortic aneurysm and aortic dissection PMID 25110237 2014 Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation.

PMID 19542084 2009 Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

PMID 23884466 2013 TGFβ receptor mutations impose a strong predisposition for human allergic disease.

PMID 27611364 2016 Genetic testing of 248 Chinese aortopathy patients using a panel assay.

PMID 24793577 2014 The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).

PMID 16928994 2006 Aneurysm syndromes caused by mutations in the TGF-beta receptor.

PMID 16596670 2006 FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

PMID 25944730 2015 Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.

PMID 18781618 2008 Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

PMID 25521989 2014 Postoperative mitral leaflet rupture in an infant with Loeys-Dietz syndrome.

PMID 16791849 2006 Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

PMID 22414221 2012 TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.

PMID 21358634 2011 Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.

PMID 22113417 2012 Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

PMID 21267002 2011 Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?

PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 18455604 2008 Aortic dissection in a young man with Loeys-Dietz syndrome.

PMID 30675029 2019 Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.

rs11568746 in TGFBR1 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs111426349 in TGFBR1 gene and Loeys-Dietz Syndrome PMID 16928994 2006 Aneurysm syndromes caused by mutations in the TGF-beta receptor.

PMID 21358634 2011 Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.

PMID 21267002 2011 Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?

PMID 22113417 2012 Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

PMID 16791849 2006 Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

PMID 18455604 2008 Aortic dissection in a young man with Loeys-Dietz syndrome.

PMID 16799921 2006 TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

PMID 26877057 2016 Genetic testing of 10 patients with features of Loeys-Dietz syndrome.

PMID 26848186 2016 Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome.

PMID 19542084 2009 Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

PMID 27879313 2016 International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

PMID 18703712 2008 Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer.

PMID 25644172 2015 Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

PMID 18781618 2008 Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

rs111426349 in TGFBR1 gene and Loeys-Dietz Syndrome, Type 1a PMID 24882528 2014 Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

PMID 16928994 2006 Aneurysm syndromes caused by mutations in the TGF-beta receptor.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 16791849 2006 Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

PMID 21522183 2011 Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 22113417 2012 Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

PMID 19883511 2009 Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 16596670 2006 FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

PMID 25173340 2014 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).

PMID 22237449 2012 Evaluation of the adolescent or adult with some features of Marfan syndrome.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

rs11568746 in TGFBR1 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs387906696 in TGFBR1 gene and MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO PMID 21358634 2011 Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.

rs41283642 in TGFBR1 gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11568746 in TGFBR1 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11568746 in TGFBR1 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11568746 in TGFBR1 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11568746 in TGFBR1 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.