Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism.
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A. Grüters | H. Biebermann | H. Krude | C. Dame | J. Lebl | Eva Al Taji | Z. Límanová | O. Hníková | J. Zikmund
[1] E. Battaloğlu,et al. A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. , 2006, The Journal of clinical endocrinology and metabolism.
[2] V. Stoppioni,et al. Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. , 2006, The Journal of clinical endocrinology and metabolism.
[3] M. Abramowicz,et al. Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. , 2005, Molecular endocrinology.
[4] M. Zannini,et al. Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability. , 2004, The Journal of clinical endocrinology and metabolism.
[5] J. Parma,et al. Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid. , 2004, The Journal of clinical endocrinology and metabolism.
[6] J. D. Engel,et al. Hepatic Erythropoietin Gene Regulation by GATA-4* , 2004, Journal of Biological Chemistry.
[7] G. Vassart,et al. Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology. , 2002, The Journal of clinical endocrinology and metabolism.
[8] Soo-Mi Park,et al. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. , 2002, Human molecular genetics.
[9] A. von Deimling,et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. , 2002, The Journal of clinical investigation.
[10] M. Nakamura,et al. Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31. , 2001, The Journal of pediatrics.
[11] P. Kopp,et al. A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. , 2001, The Journal of clinical endocrinology and metabolism.
[12] S. Antonarakis,et al. Nomenclature for the description of human sequence variations , 2001, Human Genetics.
[13] R. Lauro,et al. Pax8 has a key role in thyroid cell differentiation. , 2000, Proceedings of the National Academy of Sciences of the United States of America.
[14] M. Polak,et al. Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism. , 2000, The New England journal of medicine.
[15] D. Kioussis,et al. The homeobox gene Hex is required in definitive endodermal tissues for normal forebrain, liver and thyroid formation. , 2000, Development.
[16] J. Seidman,et al. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. , 1999, The Journal of clinical investigation.
[17] R. Laframboise,et al. A search for the possible molecular mechanisms of thyroid dysgenesis: sex ratios and associated malformations. , 1999, The Journal of clinical endocrinology and metabolism.
[18] V. Chatterjee,et al. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia , 1998, Nature Genetics.
[19] H. Schöler,et al. A mouse model for hereditary thyroid dysgenesis and cleft palate , 1998, Nature Genetics.
[20] Luca Chiovato,et al. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis , 1998, Nature Genetics.
[21] Ahmed Mansouri,et al. Follicular cells of the thyroid gland require Pax8 gene function , 1998, Nature Genetics.
[22] M. Arnone,et al. TTF‐2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation , 1997, The EMBO journal.
[23] P. Macchia,et al. Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis. , 1997, Thyroid : official journal of the American Thyroid Association.
[24] Claude Desplan,et al. Crystal structure of a paired domain-DNA complex at 2.5 å resolution reveals structural basis for pax developmental mutations , 1995, Cell.
[25] A. Grüters,et al. Etiological grouping of permanent congenital hypothyroidism with a thyroid gland in situ. , 1994, Hormone research.
[26] L Hartley,et al. Nkx-2.5: a novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants. , 1993, Development.
[27] R. Lauro,et al. The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain. , 1991, Development.
[28] D. Simon,et al. Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland. , 1990, Development.
[29] P. Harper,et al. Congenital hypothyroidism, spiky hair, and cleft palate. , 1989, Journal of medical genetics.
[30] Shirley A. Miller,et al. A simple salting out procedure for extracting DNA from human nucleated cells. , 1988, Nucleic acids research.
[31] M. Noll,et al. Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila , 1986, Cell.
[32] D. Simon,et al. Pax 8 , a murine paired box gene expressed in the developing excretory system and thyroid gland , 2005 .
[33] M. de Felice,et al. Thyroid development and its disorders: genetics and molecular mechanisms. , 2004, Endocrine reviews.
[34] J. Parma,et al. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. , 2001, The Journal of clinical endocrinology and metabolism.
[35] R. Beddington,et al. Hex: a homeobox gene revealing peri-implantation asymmetry in the mouse embryo and an early transient marker of endothelial cell precursors. , 1998, Development.
[36] C H Fox,et al. The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary. , 1996, Genes & development.
[37] J. Toublanc. Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world. , 1992, Hormone research.
[38] A. Musti,et al. The complete structure of the rat thyroglobulin gene. , 1986, Proceedings of the National Academy of Sciences of the United States of America.