Thanatophoric Dysplasia

Common Name(s)

Thanatophoric Dysplasia

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Thanatophoric Dysplasia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Thanatophoric Dysplasia" returned 23 free, full-text research articles on human participants. First 3 results:

A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia.
 

Author(s): Min Jin, Ying Yu, Huabing Qi, Yangli Xie, Nan Su, Xiaofeng Wang, Qiaoyan Tan, Fengtao Luo, Ying Zhu, Quan Wang, Xiaolan Du, Cory J Xian, Peng Liu, Haiyang Huang, Yue Shen, Chu-Xia Deng, Di Chen, Lin Chen

Journal: Hum. Mol. Genet.. 2012 Dec;21(26):5443-55.

 

Gain-of-function mutations in fibroblast growth factor receptor-3 (FGFR3) lead to several types of human skeletal dysplasia syndromes including achondroplasia, hypochondroplasia and thanatophoric dysplasia (TD). Currently, there are no effective treatments for these skeletal dysplasia ...

Last Updated: 11 Dec 2012

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Disruption of a Sox9-β-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II.
 

Author(s): Chia-Yi Shung, Sara Ota, Zi-Qiang Zhou, Douglas R Keene, Peter J Hurlin

Journal: Hum. Mol. Genet.. 2012 Nov;21(21):4628-44.

 

Mutations in fibroblast growth factor (FGF) receptors are responsible for a variety of skeletal birth defects, but the underlying mechanisms responsible remain unclear. Using a mouse model of thanatophoric dysplasia type II in which FGFR3(K650E) expression was directed to the appendicular ...

Last Updated: 16 Oct 2012

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Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia.
 

Author(s): Yangli Xie, Nan Su, Min Jin, Huabing Qi, Junbao Yang, Can Li, Xiaolan Du, Fengtao Luo, Bo Chen, Yue Shen, Haiyang Huang, Cory J Xian, Chuxia Deng, Lin Chen

Journal: Hum. Mol. Genet.. 2012 Sep;21(18):3941-55.

 

Achondroplasia (ACH) and thanatophoric dysplasia (TD) are caused by gain-of-function mutations of fibroblast growth factor receptor 3 (FGFR3) and they are the most common forms of dwarfism and lethal dwarfism, respectively. Currently, there are few effective treatments for ACH. For ...

Last Updated: 28 Aug 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Thanatophoric Dysplasia" returned 1 free, full-text review articles on human participants. First 3 results:

Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis.
 

Author(s): R L Schild, G H Hunt, J Moore, H Davies, D H Horwell

Journal: Ultrasound Obstet Gynecol. 1996 Jul;8(1):62-7.

 

A series of three cases is reported in which the diagnosis of thanatophoric dysplasia was reached at routine mid-trimester scanning in a District General Hospital. All three patients underwent termination of pregnancy with the diagnosis of thanatophoric dysplasia confirmed by postmortem ...

Last Updated: 26 Dec 1996

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.