Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Mutations of the Tubulin-specific chaperone E cause autosomal recessive hypoparathyroidism-retardation-dysmorphism syndrome or autosomal recessive form of Kenny-Caffey syndrome.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Parvari R et al. (2002) Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 
|
| 2. |
Diaz GA et al. (1999) Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.
|
| 3. |
Martin N et al. (2002) A missense mutation in Tbce causes progressive motor neuronopathy in mice.
|
| 4. |
Bommel H et al. (2002) Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease.
|
| 5. |
Tian G et al. (2006) Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD.
|
| 6. |
Schmalbruch H et al. (1991) A new mouse mutant with progressive motor neuronopathy.
|
| 7. |
Lewis SA et al. (1996) Chaperonin-mediated folding of actin and tubulin.
|
| 8. |
Tian G et al. (1996) Pathway leading to correctly folded beta-tubulin.
|
| 9. |
NCBI article NCBI 6905
|
| 10. |
OMIM.ORG article Omim 604934
|
| 11. |
Orphanet article Orphanet ID 119938
|
| 12. |
Wikipedia article Wikipedia EN (TBCE)
|
 |
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
