ALLMedicine™ Asphyxiating Thoracic Dystrophy Center
Research & Reviews 34 results
A&A Practice; Kondo H, Hyuga S et. al.
Feb 13th, 2021 - Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a rare form of autosomal recessive skeletal dysplasia. Respiratory distress due to thoracic and lung dysplasia is the primary complication associated with this disorder in neonates....
American Journal of Medical Genetics. Part A; Strong A, Li D et. al.
Feb 7th, 2021 - TTC21B encodes the protein IFT139, a critical component of the retrograde transport system within the primary cilium. Biallelic, pathogenic TTC21B variants are associated with classic ciliopathy syndromes, including nephronophthisis, Jeune asphyxi...
Clinical Genetics; Al-Fadhli FM, Afqi M et. al.
Jan 27th, 2021 - Protein disulfide isomerase A6 (PDIA6) is an unfolded protein response (UPR)-regulating protein. PDIA6 regulates the UPR sensing proteins, Inositol requiring enzyme 1, and EIF2AK3. Biallelic inactivation of the two genes in mice and humans resulte...
Genetics in Medicine : Official Journal of the American C... Vig A, Poulter JA et. al.
Aug 6th, 2020 - Determining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease (IRD). Genome and exome sequencing were performed for five unrelated cases of IRD with no identified variant. In vitro assays were developed to validate the variant...
European Journal of Medical Genetics; Faudi E, Brischoux-Boucher E et. al.
Dec 10th, 2019 - A narrow thorax with shortening of long bones is usually pointing to dysfunction of the primary cilia corresponding clinically to ciliopathies with major skeletal involvement. Mutations in at least 23 genes are likely to correspond to this clinica...