[HTML][HTML] Clinical features and complications of Loeys-Dietz syndrome: A systematic review

P Gouda, R Kay, M Habib, A Aziz, E Aziza… - International Journal of …, 2022 - Elsevier
Abstract Introduction Loeys-Dietz syndrome (LDS) is a connective tissue disorder that arises
from mutations altering the transforming growth factor β signalling pathway. Due to the …

[HTML][HTML] Dysregulation of the immune response in TGF-β signalopathies

MM Rodari, N Cerf-Bensussan, M Parlato - Frontiers in Immunology, 2022 - frontiersin.org
The transforming growth factor-β (TGF-β) family of cytokines exerts pleiotropic functions
during embryonic development, tissue homeostasis and repair as well as within the immune …

An integrated taxonomy for monogenic inflammatory bowel disease

C Bolton, CS Smillie, S Pandey, R Elmentaite, G Wei… - Gastroenterology, 2022 - Elsevier
Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

[HTML][HTML] Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

A Ziegler, R Duclaux-Loras, C Revenu… - The American Journal of …, 2021 - cell.com
Dysregulated transforming growth factor TGF-β signaling underlies the pathogenesis of
genetic disorders affecting the connective tissue such as Loeys-Dietz syndrome. Here, we …

[HTML][HTML] Intestinal immunoregulation: lessons from human mendelian diseases

F Charbit-Henrion, M Parlato, G Malamut… - Mucosal …, 2021 - Elsevier
The mechanisms that maintain intestinal homeostasis despite constant exposure of the gut
surface to multiple environmental antigens and to billions of microbes have been scrutinized …

[HTML][HTML] Loss of MMR and TGFBR2 increases the susceptibility to microbiota-dependent inflammation-associated colon cancer

E Tosti, AS Almeida, TTT Tran, MB e Silva… - Cellular and Molecular …, 2022 - Elsevier
Background and Aims Mutations in DNA mismatch repair (MMR) genes are causative in
Lynch syndrome and a significant proportion of sporadic colorectal cancers (CRCs). MMR …

Attenuation of myeloid-specific TGFβ signaling induces inflammatory cerebrovascular disease and stroke

MC Hollander, LL Latour, D Yang, H Ishii… - Circulation …, 2017 - Am Heart Assoc
Rationale: Cryptogenic strokes, those of unknown cause, have been estimated as high as
30% to 40% of strokes. Inflammation has been suggested as a critical etiologic factor …

Very early-onset inflammatory bowel disease: an integrated approach

KE Sullivan, M Conrad, JR Kelsen - Current opinion in allergy and …, 2018 - journals.lww.com
An integrated approach to diagnosis, risk analysis, and management can include diagnostic
approaches not often utilized for traditional IBD such as whole exome sequencing …

[HTML][HTML] Predictors of low bone density and fracture risk in Loeys–Dietz syndrome

AL Guerrerio, A Mateja, M Rasooly, S Levin… - Genetics in …, 2022 - Elsevier
Abstract Purpose Loeys–Dietz syndrome (LDS) is a connective tissue disorder affecting
multiple organ systems, including bone. Methods We defined the bone phenotype and …

[HTML][HTML] Smad7 Antisense Oligonucleotide in Crohn's Disease: A Re-Evaluation and Explanation for the Discordant Results of Clinical Trials

G Monteleone, C Stolfi - Pharmaceutics, 2022 - mdpi.com
In Crohn's disease (CD) and ulcerative colitis (UC), the major inflammatory bowel diseases
(IBD) in human beings, the tissue-damaging inflammatory response is characterized by …