Torrance Type Platyspondylic Lethal Skeletal Dysplasia

Also Known As:

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type; Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type; PLSD-T; PLSD-TL; Platyspondylic Chondrodysplasia, Torrance-Luton Type; Platyspondylic Lethal Skeletal Dysplasia, Luton Type; Platyspondylic Skeletal Dysplasia, Torrance Type; Thanatophoric Dysplasia, Luton Variant; Thanatophoric Dysplasia, Torrance Variant

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Experts

1.	Furuichi, Tatsuya: 2 articles (12/2015 - 06/2011)
2.	Ikegawa, Shiro: 2 articles (12/2015 - 06/2011)
3.	Masuya, Hiroshi: 2 articles (12/2015 - 06/2011)
4.	Suzuki, Tomohiro: 2 articles (12/2015 - 06/2011)
5.	Wakana, Shigeharu: 2 articles (12/2015 - 06/2011)
6.	Ichimura, Satoki: 1 article (12/2015)
7.	Kimura, Makoto: 1 article (12/2015)
8.	Sasaki, Kuniaki: 1 article (12/2015)
9.	Imaizumi, Kazunori: 1 article (06/2011)
10.	Kudo, Takashi: 1 article (06/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Torrance Type Platyspondylic Lethal Skeletal Dysplasia:

1.	Collagen Type II (Type II Collagen)IBA 06/01/2011 - "These findings suggested that the accumulation of mutant type II collagen in the ER and subsequent induction of ER stress are involved, at least in part in the PLSD-T-like phenotypes of the mutants. " 02/15/2005 - "Recently, mutations in the carboxy-propeptide of type II collagen have been identified in two patients with PLSD-T, indicating that PLSD-T is a type 2 collagen-associated disorder. "
2.	Mutant Proteins (Protein, Mutant)IBA 12/04/2015 - "These findings strongly suggest that ER stress-mediated apoptosis caused by the accumulated mutant proteins in ER contributes to skeletal dysplasia in Co12a1 mutant mice and PLSD-T patients. "
3.	ProcollagenIBA 12/01/2007 - "The Y1391C mutation is located in the C-propeptide of the procollagen chain and has been reported before in a patient with the Torrance type of lethal platyspondylic skeletal dysplasia (PLSD-T). "
4.	CollagenIBA 02/15/2005 - "We conclude that PLSD-T is caused by mutations in the C-propeptide domain of COL2A1, which lead to biosynthesis of an altered collagen chain (as opposed to a null allele). " 02/15/2005 - "Recently, mutations in the carboxy-propeptide of type II collagen have been identified in two patients with PLSD-T, indicating that PLSD-T is a type 2 collagen-associated disorder. "