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About 138 results

ALLMedicine™ Asphyxiating Thoracic Dystrophy Center

Research & Reviews  69 results

First Report of Spinal Anesthesia for Cesarean Delivery in a Parturient With Jeune Synd...
https://doi.org/10.1213/XAA.0000000000001400
A&A Practice; Kondo H, Hyuga S et. al.

Feb 12th, 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....

A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease.
https://doi.org/10.1002/ajmg.a.62093
American Journal of Medical Genetics. Part A; Strong A, Li D et. al.

Feb 6th, 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...

Biallelic loss of function variant in the unfolded protein response gene PDIA6 is assoc...
https://doi.org/10.1111/cge.13930
Clinical Genetics; Al-Fadhli FM, Afqi M et. al.

Jan 26th, 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...

A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.
https://doi.org/10.1016/j.ejmg.2019.103823
European Journal of Medical Genetics; Faudi E, Brischoux-Boucher E et. al.

Dec 9th, 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...

Asphyxiating Thoracic Dystrophy (Jeune Syndrome)
https://emedicine.medscape.com/article/945537-overview

Apr 30th, 2019 - Practice Essentials Asphyxiating thoracic dystrophy, or Jeune syndrome (JS), is a rare autosomal recessive ciliopathy characterized by multiple skeleto-muscular abnormalities, multi-organ involvement and variable severity. A very narrow thorax wit...

see more →

Clinicaltrials.gov  69 results

First Report of Spinal Anesthesia for Cesarean Delivery in a Parturient With Jeune Synd...
https://doi.org/10.1213/XAA.0000000000001400
A&A Practice; Kondo H, Hyuga S et. al.

Feb 12th, 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....

A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease.
https://doi.org/10.1002/ajmg.a.62093
American Journal of Medical Genetics. Part A; Strong A, Li D et. al.

Feb 6th, 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...

Biallelic loss of function variant in the unfolded protein response gene PDIA6 is assoc...
https://doi.org/10.1111/cge.13930
Clinical Genetics; Al-Fadhli FM, Afqi M et. al.

Jan 26th, 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...

A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.
https://doi.org/10.1016/j.ejmg.2019.103823
European Journal of Medical Genetics; Faudi E, Brischoux-Boucher E et. al.

Dec 9th, 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...

Asphyxiating Thoracic Dystrophy (Jeune Syndrome)
https://emedicine.medscape.com/article/945537-overview

Apr 30th, 2019 - Practice Essentials Asphyxiating thoracic dystrophy, or Jeune syndrome (JS), is a rare autosomal recessive ciliopathy characterized by multiple skeleto-muscular abnormalities, multi-organ involvement and variable severity. A very narrow thorax wit...

see more →