Pulmonary arterial hypertension
Gene: SMAD1
PMID: 29650961 (2018) further question the validity of CAV1, SMAD1 and SMAD4 causing PAH. No pathogenic coding variants in CAV1, SMAD1 or SMAD4 were identified. However it was noted that the participants with causative variants reported in these genes might represent private mutations in in very rare families.Created: 16 Apr 2018, 12:01 p.m.
PMID: 26387786 (2011) Mutations in the genes encoding the downstream signalling intermediaries for bone morphogenetic protein receptors, the Smad proteins have been reported in some patients with PAH. Of these, the SMAD1 and SMAD4 defects have been described as VUS due to in vitro luciferase SMAD responsive elements reporter assays demonstrating an unclear impact on the canonical pathways (PMID:21898662). However, these analyses did not investigate SMAD-independent pathways, implicated in disease pathogenesis, leaving open the possibility that the identified variants may deleteriously affect other BMP related systems. There is a mouse model PMID:23478097 (2013) where SMAD1 deficiency in either endothelial or smooth muscle cells predisposed mice to pulmonary hypertension.Created: 21 Jun 2017, 11:15 a.m.
Publications for SMAD1 were set to 21898662; 23478097; 24355637; 24959202; 26387786; 29650961
Publications for SMAD1 were set to 21898662; 23478097; 24355637; 24959202; 26387786; 29650961
Panel reviews were assessed, and panel was revised according to reviews and further in-house curation.
SMAD1 was added to Pulmonary arterial hypertensionpanel. Sources: Expert list
Publications for SMAD1 were set to 21898662; 23478097; 24355637; 24959202; 26387786
Mode of inheritance for SMAD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for SMAD1 were set to 21898662; 23478097; 24355637; 24959202; 26387786
Publications for SMAD1 were set to 21898662; 24135949; 23478097; 24355637; 24959202;26387786
SMAD1 was created by LouiseD
SMAD1 was added to Pulmonary arterial hypertensionpanel. Sources: Literature