KEGG VARIANT: 7252v1

VARIANT: 7252v1

Entry

7252v1                      Variant

Name

TSHB mutation

Gene

TSHB thyroid stimulating hormone subunit beta [KO:K05251]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 188540

Network

nt06322 TRH-TSH-TH signaling

Disease

H00250

Congenital nongoitrous hypothyroidism (CHNG)

Reference

PMID:2792087

Authors

Hayashizaki Y, Hiraoka Y, Endo Y, Miyai K, Matsubara K

Title

Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit.

Journal

EMBO J 8:2291-6 (1989)
DOI:10.1002/j.1460-2075.1989.tb08355.x

Reference

PMID:1971148

Authors

Dacou-Voutetakis C, Feltquate DM, Drakopoulou M, Kourides IA, Dracopoli NC

Title

Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.

Journal

Am J Hum Genet 46:988-93 (1990)

Reference

PMID:15611820

Authors

Vono-Toniolo J, Kopp P

Title

Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.

Journal

Arq Bras Endocrinol Metabol 48:70-82 (2004)
DOI:10.1590/S0004-27302004000100009

Reference

PMID:19936667

Authors

Muthukrishnan J, Harikumar KV, Verma A, Modi K

Title

Central hypothyroidism.

Journal

Indian J Pediatr 77:94-6 (2010)
DOI:10.1007/s12098-009-0248-1

Reference

PMID:27362444

Authors

Nicholas AK, Jaleel S, Lyons G, Schoenmakers E, Dattani MT, Crowne E, Bernhard B, Kirk J, Roche EF, Chatterjee VK, Schoenmakers N

Title

Molecular spectrum of TSHbeta subunit gene defects in central hypothyroidism in the UK and Ireland.

Journal

Clin Endocrinol (Oxf) 86:410-418 (2017)
DOI:10.1111/cen.13149

All links

Network (1)   
   KEGG NETWORK (1)   
Disease (1)   
   KEGG DISEASE (1)   
Gene (1)   
   OMIMVAR (1)   
Literature (5)   
   PubMed (5)   
All databases (8)   

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