Goiter, familial with hypothyroidism, autosomal recessive

Alternative name(s) : Genetic defect in thyroid hormogenesis III, Thyroglobulin synthesis defect

Gene_locus : 1

Mutation : 98

OMIM : 188450 , 274700

Comment
(from OMIM) De Vijlder et al. (1983) described a presumably autosomal dominant form of hereditary congenital goiter in a mother and 4 of her 8 children. Goiter was present in other members of the mother's family. Thyroglobulin was found to be reduced in the thyroid (17 mg/g thyroid tissue; normal value = 50) and was more negatively charged than normal, as shown by isoelectric focusing and DEAE-cellulose chromatography. In the family with hereditary congenital hypothyroidism due to a defect in the synthesis and structure of thyroglobulin (de Vijlder et al., 1983), cosegregation of the rare defect and the polymorphism indicated that the hypothyroidism was caused by a mutation in the structural gene for thyroglobulin. Furthermore, the findings seem to indicate that the defect, in this family at least, is autosomal dominant, not recessive as usually thought. Van Ommen (1987) pointed out that the defects in the TG gene can cause either dominant or recessive disorders depending on the nature of the defect. When the gene is absent or at least when no thyroglobulin is synthesized, the disorder is likely to be recessive, whereas the presence of an abnormal subunit leads to a dominantly inherited disorder. The explanation for this is that in a dimeric protein such as thyroglobulin, 75% of the dimers in heterozygotes will contain 1 or more abnormal subunits. This should profoundly disturb thyroglobulin metabolism, since this protein fulfills a dual storage/catalytic role as a dimer, is present in bulk quantities (100 mg Tg/g thyroid mass), and needs to be exocytosed, iodinated, endocytosed, and degraded.

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Gene_locus related to this paper: human-TG

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Gene_locus related to this paper: human-TG

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Gene_locus related to this paper: human-TG

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Gene_locus related to this paper: human-TG

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Gene_locus related to this paper: human-TG

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Gene_locus related to this paper: human-TG

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Gene_locus related to this paper: human-TG

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Gene_locus related to this paper: human-TG

Title : A new compound heterozygous for c.886C>T\/c.2206C>T [p.R277X\/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism -
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Gene_locus related to this paper: human-TG

Title : Thyroglobulin gene mutations in congenital hypothyroidism - Targovnik_2011_Horm.Res.Paediatr_75_311
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Title : Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene - Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716
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Gene_locus related to this paper: human-TG

Title : Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7 - Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112
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Gene_locus related to this paper: human-TG

Title : Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis - Caputo_2010_Endocrine_37_389
Author(s) : Caputo M , Rivolta CM , Mories T , Corrales JJ , Galindo P , Gonzalez-Sarmiento R , Targovnik HM , Miralles-Garcia JM
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Gene_locus related to this paper: human-TG

Title : New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter - Peteiro-Gonzalez_2010_J.Clin.Endocrinol.Metab_95_3522
Author(s) : Peteiro-Gonzalez D , Lee J , Rodriguez-Fontan J , Castro-Piedras I , Cameselle-Teijeiro J , Beiras A , Bravo SB , Alvarez CV , Hardy DM , Targovnik HM , Arvan P , Lado-Abeal J
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Gene_locus related to this paper: human-TG

Title : Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma - Raef_2010_J.Clin.Endocrinol.Metab_95_1000
Author(s) : Raef H , Al-Rijjal R , Al-Shehri S , Zou M , Al-Mana H , Baitei EY , Parhar RS , Al-Mohanna FA , Shi Y
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Gene_locus related to this paper: human-TG

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Gene_locus related to this paper: human-TG

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Gene_locus related to this paper: human-TG

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Author(s) : Kim PS , Lee J , Jongsamak P , Menon S , Li B , Hossain SA , Bae JH , Panijpan B , Arvan P
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Gene_locus related to this paper: human-TG

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Title : Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan - Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100
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Title : Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene - Alzahrani_2006_J.Clin.Endocrinol.Metab_91_740
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Title : A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation - Rivolta_2005_J.Clin.Endocrinol.Metab_90_3766
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Title : Two distinct compound heterozygous constellations (R277X\/IVS34-1G>C and R277X\/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis - Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646
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PubMedID: 14764776
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Abstract :
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PubMedID: 14657345
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Title : Analysis of Tg transcripts by real-time RT-PCR in the blood of thyroid cancer patients - Savagner_2002_J.Clin.Endocrinol.Metab_87_635
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Title : Up to date with human thyroglobulin - van de Graaf_2001_J.Endocrinol_170_307
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PubMedID: 11479128
Gene_locus related to this paper: human-TG

Title : Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene - Targovnik_2001_Thyroid_11_685
Author(s) : Targovnik HM , Rivolta CM , Mendive FM , Moya CM , Vono J , Medeiros-Neto G
Ref : Thyroid , 11 :685 , 2001
Abstract :
PubMedSearch : Targovnik_2001_Thyroid_11_685
PubMedID: 11484898
Gene_locus related to this paper: human-TG

Title : Monoallelic deletion in the 5' region of the thyroglobulin gene as a cause of sporadic nonendemic simple goiter - Gonzalez-Sarmiento_2001_Thyroid_11_789
Author(s) : Gonzalez-Sarmiento R , Corral J , Mories MT , Corrales JJ , Miguel-Velado E , Miralles-Garcia JM
Ref : Thyroid , 11 :789 , 2001
Abstract :
PubMedSearch : Gonzalez-Sarmiento_2001_Thyroid_11_789
PubMedID: 11525274
Gene_locus related to this paper: human-TG

Title : A missense mutation G2320R in the thyroglobulin gene causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat - Kim_2000_Mol.Endocrinol_14_1944
Author(s) : Kim PS , Ding M , Menon S , Jung CG , Cheng JM , Miyamoto T , Li B , Furudate S , Agui T
Ref : Mol Endocrinol , 14 :1944 , 2000
Abstract :
PubMedSearch : Kim_2000_Mol.Endocrinol_14_1944
PubMedID: 11117525
Gene_locus related to this paper: ratno-thyro

Title : Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter - Hishinuma_1999_J.Clin.Endocrinol.Metab_84_1438
Author(s) : Hishinuma A , Takamatsu J , Ohyama Y , Yokozawa T , Kanno Y , Kuma K , Yoshida S , Matsuura N , Ieiri T
Ref : J Clinical Endocrinology Metab , 84 :1438 , 1999
Abstract :
PubMedSearch : Hishinuma_1999_J.Clin.Endocrinol.Metab_84_1438
PubMedID: 10199792

Title : Expression of the Na+\/I- symporter gene in human thyroid tumors: a comparison study with other thyroid-specific genes - Lazar_1999_J.Clin.Endocrinol.Metab_84_3228
Author(s) : Lazar V , Bidart JM , Caillou B , Mahe C , Lacroix L , Filetti S , Schlumberger M
Ref : J Clinical Endocrinology Metab , 84 :3228 , 1999
Abstract :
PubMedSearch : Lazar_1999_J.Clin.Endocrinol.Metab_84_3228
PubMedID: 10487692

Title : A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism - van de Graaf_1999_J.Clin.Endocrinol.Metab_84_2537
Author(s) : van de Graaf SA , Ris-Stalpers C , Veenboer GJ , Cammenga M , Santos C , Targovnik HM , de Vijlder JJ , Medeiros-Neto G
Ref : J Clinical Endocrinology Metab , 84 :2537 , 1999
Abstract :
PubMedSearch : van de Graaf_1999_J.Clin.Endocrinol.Metab_84_2537
PubMedID: 10404833
Gene_locus related to this paper: human-TG

Title : A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog\/cog mouse: a model of human endoplasmic reticulum storage diseases - Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909
Author(s) : Kim PS , Hossain SA , Park YN , Lee I , Yoo SE , Arvan P
Ref : Proc Natl Acad Sci U S A , 95 :9909 , 1998
Abstract :
PubMedSearch : Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909
PubMedID: 9707574
Gene_locus related to this paper: mouse-thyro

Title : Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism - Targovnik_1998_Thyroid_8_291
Author(s) : Targovnik HM , Frechtel GD , Mendive FM , Vono J , Cochaux P , Vassart G , Medeiros-Neto G
Ref : Thyroid , 8 :291 , 1998
Abstract :
PubMedSearch : Targovnik_1998_Thyroid_8_291
PubMedID: 9588493

Title : Prenatal diagnosis and treatment of dyshormonogenetic fetal goiter due to defective thyroglobulin synthesis -
Author(s) : Medeiros-Neto G , Bunduki V , Tomimori E , Gomes S , Knobel M , Martin RT , Zugaib M
Ref : J Clinical Endocrinology Metab , 82 :4239 , 1997
PubMedID: 9398747

Title : A variant of adenomatous goiter with characteristic histology and possible hereditary thyroglobulin abnormality - Yoshida_1996_J.Clin.Endocrinol.Metab_81_1961
Author(s) : Yoshida S , Takamatsu J , Kuma K , Murakami Y , Sakane S , Katayama S , Tarutani O , Ohsawa N
Ref : J Clinical Endocrinology Metab , 81 :1961 , 1996
Abstract :
PubMedSearch : Yoshida_1996_J.Clin.Endocrinol.Metab_81_1961
PubMedID: 8626865

Title : Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter - Perez-Centeno_1996_Thyroid_6_423
Author(s) : Perez-Centeno C , Gonzalez-Sarmiento R , Mories MT , Corrales JJ , Miralles-Garcia JM
Ref : Thyroid , 6 :423 , 1996
Abstract :
PubMedSearch : Perez-Centeno_1996_Thyroid_6_423
PubMedID: 8936666
Gene_locus related to this paper: human-TG

Title : A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis - Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356
Author(s) : Targovnik HM , Vono J , Billerbeck AE , Cerrone GE , Varela V , Mendive F , Wajchenberg BL , Medeiros-Neto G
Ref : J Clinical Endocrinology Metab , 80 :3356 , 1995
Abstract :
PubMedSearch : Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356
PubMedID: 7593451
Gene_locus related to this paper: human-TG

Title : Molecular genetics of hereditary thyroid diseases due to a defect in the thyroglobulin or thyroperoxidase synthesis - Targovnik_1994_Braz.J.Med.Biol.Res_27_2745
Author(s) : Targovnik HM , Varela V , Frechtel GD , Cerrone GE , Copelli SB , Propato FV , Mendive F
Ref : Brazilian Journal of Medical & Biological Research , 27 :2745 , 1994
Abstract :
PubMedSearch : Targovnik_1994_Braz.J.Med.Biol.Res_27_2745
PubMedID: 7549998
Gene_locus related to this paper: human-TG

Title : Thyroglobulin gene point mutation associated with non-endemic simple goitre - Corral_1993_Lancet_341_462
Author(s) : Corral J , Martin C , Perez R , Sanchez I , Mories MT , San Millan JL , Miralles JM , Gonzalez-Sarmiento R
Ref : Lancet , 341 :462 , 1993
Abstract :
PubMedSearch : Corral_1993_Lancet_341_462
PubMedID: 8094490
Gene_locus related to this paper: human-TG

Title : A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger - Targovnik_1993_J.Clin.Endocrinol.Metab_77_210
Author(s) : Targovnik HM , Medeiros-Neto G , Varela V , Cochaux P , Wajchenberg BL , Vassart G
Ref : J Clinical Endocrinology Metab , 77 :210 , 1993
Abstract :
PubMedSearch : Targovnik_1993_J.Clin.Endocrinol.Metab_77_210
PubMedID: 8325944
Gene_locus related to this paper: human-TG

Title : A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism - Ieiri_1991_J.Clin.Invest_88_1901
Author(s) : Ieiri T , Cochaux P , Targovnik HM , Suzuki M , Shimoda S , Perret J , Vassart G
Ref : J Clinical Investigation , 88 :1901 , 1991
Abstract :
PubMedSearch : Ieiri_1991_J.Clin.Invest_88_1901
PubMedID: 1752952

Title : Identification of a splicing mutation responsible for a human hereditary goiter with hypothyroidism. (Abstract) -
Author(s) : Cochaux P , Ieiri T , Targovnik H , Suzuki M , Shimoda SI , Perret J , Vassart G
Ref : American Journal of Human Genetics , 49 (suppl.) :131 , 1991
PubMedID:

Title : Differential levels of thyroid peroxidase and thyroglobulin messenger ribonucleic acids in congenital goiter with defective thyroglobulin synthesis - Targovnik_1990_J.Endocrinol.Invest_13_797
Author(s) : Targovnik HM , Varela V , Juvenal GJ , Propato F , Chester HA , Krawiec L , Frechtel G , Moran DH , Perinetti HA , Pisarev MA
Ref : J Endocrinol Invest , 13 :797 , 1990
Abstract :
PubMedSearch : Targovnik_1990_J.Endocrinol.Invest_13_797
PubMedID: 2096156
Gene_locus related to this paper: human-TG

Title : Mutant gene-induced disorders of structure, function and thyroglobulin synthesis in congenital goitre (cog\/cog) in mice - Adkison_1990_J.Endocrinol_126_51
Author(s) : Adkison LR , Taylor S , Beamer WG
Ref : J Endocrinol , 126 :51 , 1990
Abstract :
PubMedSearch : Adkison_1990_J.Endocrinol_126_51
PubMedID: 1696305

Title : Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis - Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137
Author(s) : Targovnik H , Propato F , Varela V , Wajchenberg B , Knobel M , D'Abronzo HF , Medeiros-Neto G
Ref : J Clinical Endocrinology Metab , 69 :1137 , 1989
Abstract :
PubMedSearch : Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137
PubMedID: 2584351

Title : Merging autosomal dominance and recessivity -
Author(s) : Van Ommen GB
Ref : American Journal of Human Genetics , 41 :689 , 1987
PubMedID: 3661566

Title : Autosomal recessive inheritance of goiter in Dutch goats - Kok_1987_J.Hered_78_298
Author(s) : Kok K , van Dijk JE , Sterk A , Baas F , van Ommen GJ , de Vijlder JJ
Ref : Journal of Heredity , 78 :298 , 1987
Abstract :
PubMedSearch : Kok_1987_J.Hered_78_298
PubMedID: 3680925

Title : The congenital goiter mutation is linked to the thyroglobulin gene in the mouse - Taylor_1987_Proc.Natl.Acad.Sci.U.S.A_84_1986
Author(s) : Taylor BA , Rowe L
Ref : Proc Natl Acad Sci U S A , 84 :1986 , 1987
Abstract :
PubMedSearch : Taylor_1987_Proc.Natl.Acad.Sci.U.S.A_84_1986
PubMedID: 2882514
Gene_locus related to this paper: mouse-thyro

Title : Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA - Malthiery_1987_Eur.J.Biochem_165_491
Author(s) : Malthiery Y , Lissitzky S
Ref : European Journal of Biochemistry , 165 :491 , 1987
Abstract :
PubMedSearch : Malthiery_1987_Eur.J.Biochem_165_491
PubMedID: 3595599
Gene_locus related to this paper: human-TG

Title : Structural organization of the 5' region of the thyroglobulin gene. Evidence for intron loss and exonization during evolution - Parma_1987_J.Mol.Biol_196_769
Author(s) : Parma J , Christophe D , Pohl V , Vassart G
Ref : Journal of Molecular Biology , 196 :769 , 1987
Abstract :
PubMedSearch : Parma_1987_J.Mol.Biol_196_769
PubMedID: 3681978
Gene_locus related to this paper: bovin-thyro , human-TG

Title : Inherited congenital goiter in mice - Beamer_1987_Endocrinology_120_838
Author(s) : Beamer WG , Maltais LJ , DeBaets MH , Eicher EM
Ref : Endocrinology , 120 :838 , 1987
Abstract :
PubMedSearch : Beamer_1987_Endocrinology_120_838
PubMedID: 3803305

Title : A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts - Ricketts_1987_Proc.Natl.Acad.Sci.U.S.A_84_3181
Author(s) : Ricketts MH , Simons MJ , Parma J , Mercken L , Dong Q , Vassart G
Ref : Proc Natl Acad Sci U S A , 84 :3181 , 1987
Abstract :
PubMedSearch : Ricketts_1987_Proc.Natl.Acad.Sci.U.S.A_84_3181
PubMedID: 3472203

Title : The human thyroglobulin gene is over 300 kb long and contains introns of up to 64 kb - Baas_1986_Nucleic.Acids.Res_14_5171
Author(s) : Baas F , van Ommen GJ , Bikker H , Arnberg AC , de Vijlder JJ
Ref : Nucleic Acids Research , 14 :5171 , 1986
Abstract :
PubMedSearch : Baas_1986_Nucleic.Acids.Res_14_5171
PubMedID: 3016640

Title : The thyroglobulin gene resides on chromosome 8 in man and on chromosome 7 in the rat - Brocas_1985_Cytogenet.Cell.Genet_39_150
Author(s) : Brocas H , Szpirer J , Lebo RV , Levan G , Szpirer C , Cheung MC , Vassart G
Ref : Cytogenet Cell Genet , 39 :150 , 1985
Abstract :
PubMedSearch : Brocas_1985_Cytogenet.Cell.Genet_39_150
PubMedID: 4006519

Title : Mapping of human thyroglobulin gene on the long arm of chromosome 8 by in situ hybridization - Avvedimento_1985_Hum.Genet_71_163
Author(s) : Avvedimento VE , Di Lauro R , Monticelli A , Bernardi F , Patracchini P , Calzolari E , Martini G , Varrone S
Ref : Hum Genet , 71 :163 , 1985
Abstract :
PubMedSearch : Avvedimento_1985_Hum.Genet_71_163
PubMedID: 4043966

Title : The human thyroglobulin gene: a polymorphic marker localized distal to C-MYC on chromosome 8 band q24 - Baas_1985_Hum.Genet_69_138
Author(s) : Baas F , Bikker H , Geurts van Kessel A , Melsert R , Pearson PL , de Vijlder JJ , van Ommen GJ
Ref : Hum Genet , 69 :138 , 1985
Abstract :
PubMedSearch : Baas_1985_Hum.Genet_69_138
PubMedID: 2982724

Title : Chromosomal localization of a unique gene by non-autoradiographic in situ hybridization - Landegent_1985_Nature_317_175
Author(s) : Landegent JE , Jansen in de Wal N , van Ommen GJ , Baas F , de Vijlder JJ , van Duijn P , Van der Ploeg M
Ref : Nature , 317 :175 , 1985
Abstract :
PubMedSearch : Landegent_1985_Nature_317_175
PubMedID: 3839907

Title : Defective splicing of thyroglobulin gene transcripts in the congenital goitre of the Afrikander cattle - Ricketts_1985_EMBO.J_4_731
Author(s) : Ricketts MH , Pohl V , de Martynoff G , Boyd CD , Bester AJ , Van Jaarsveld PP , Vassart G
Ref : EMBO Journal , 4 :731 , 1985
Abstract :
PubMedSearch : Ricketts_1985_EMBO.J_4_731
PubMedID: 2988933

Title : Localization of the thyroglobulin gene by in situ hybridization to human chromosomes - Berge-Lefranc_1985_Hum.Genet_69_28
Author(s) : Berge-Lefranc JL , Cartouzou G , Mattei MG , Passage E , Malezet-Desmoulins C , Lissitzky S
Ref : Hum Genet , 69 :28 , 1985
Abstract :
PubMedSearch : Berge-Lefranc_1985_Hum.Genet_69_28
PubMedID: 3967888

Title : Chromosome mapping and polymorphism study of the human thyroglobulin gene. (Abstract) -
Author(s) : Van Ommen G-JB , Baas F , Arnberg AC , Pearson PL , De Vijlder JJM
Ref : Cytogenet Cell Genet , 37 :562 , 1984
PubMedID:

Title : Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele - Baas_1984_Hum.Genet_67_301
Author(s) : Baas F , Bikker H , van Ommen GJ , de Vijlder JJ
Ref : Hum Genet , 67 :301 , 1984
Abstract :
PubMedSearch : Baas_1984_Hum.Genet_67_301
PubMedID: 6088387

Title : Inherited disorders of thyroid metabolism - Lever_1983_Endocr.Rev_4_213
Author(s) : Lever EG , Medeiros-Neto GA , DeGroot LJ
Ref : Endocr Rev , 4 :213 , 1983
Abstract :
PubMedSearch : Lever_1983_Endocr.Rev_4_213
PubMedID: 6354701

Title : Autosomal dominant inheritance of a thyroglobulin abnormality suggests cooperation of sub-units in hormone formation -
Author(s) : De Vijlder JJM , Baas F , Koch CAM , Kok K , Gons M
Ref : Ann Endocrinol (Paris) , 44 :36 , 1983
PubMedID:

Title : Abnormal cellular localization of thyroglobulin mRNA associated with hereditary congenital goiter and thyroglobulin deficiency - Van Voorthuizen_1978_Proc.Natl.Acad.Sci.U.S.A_75_74
Author(s) : Van Voorthuizen WF , Dinsart C , Flavell RA , DeVijlder JJ , Vassart G
Ref : Proc Natl Acad Sci U S A , 75 :74 , 1978
Abstract :
PubMedSearch : Van Voorthuizen_1978_Proc.Natl.Acad.Sci.U.S.A_75_74
PubMedID: 272675

Title : Defective thyroglobulin export as a cause of congenital goitre - Lissitzky_1975_Clin.Endocrinol.(Oxf)_4_363
Author(s) : Lissitzky S , Torresani J , Burrow GN , Bouchilloux S , Chabaud O
Ref : Clinical Endocrinology (Oxf) , 4 :363 , 1975
Abstract :
PubMedSearch : Lissitzky_1975_Clin.Endocrinol.(Oxf)_4_363
PubMedID: 1157342

Title : A goitrous subject with structural abnormality of thyroglobulin -
Author(s) : Kusakabe T
Ref : J Clinical Endocrinology Metab , 35 :785 , 1972
PubMedID: 4628864

Title : Studies on the congenitally goitrous sheep. Iodoproteins of the goitre - Falconer_1970_Biochem.J_117_417
Author(s) : Falconer IR , Roitt IM , Seamark RF , Torrigiani G
Ref : Biochemical Journal , 117 :417 , 1970
Abstract :
PubMedSearch : Falconer_1970_Biochem.J_117_417
PubMedID: 5419739

Title : Familial goiter with diminished synthesis of thyroglobulin. -
Author(s) : Riddick FAJr , Desai KB , Murison PJ , Stanbury JB
Ref : J Exp Med , 150 :203 , 1969
PubMedID:

Title : Congenital goiter with hypothyroidism and iodo-serum albumin replacing thyroglobulin -
Author(s) : Lissitzky S , Codaccioni JL , Bismuth J , Depieds R
Ref : J Clinical Endocrinology Metab , 27 :185 , 1967
PubMedID: 4163612

Title : THYROIDAL IODOPROTEINS IN PATIENTS WITH GOITROUS HYPOTHYROIDISM -
Author(s) : Michel R , Rall JE , Roche J , Tubiana M
Ref : J Clinical Endocrinology Metab , 24 :352 , 1964
PubMedID: 14167076

Title : Goitre and cretinism due to the production of an abnormal iodinated thyroid compound -
Author(s) : McGirr EM , Hutchison JH , Clement WE , Kennedy JS , Currie AR
Ref : Scot. Med. J , 5 :189 , 1960
PubMedID: