Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX81

The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary.

1996 • 1,208 citations

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

1997 • 1,123 citations

Follicular cells of the thyroid gland require Pax8 gene function

1998 • 610 citations

PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis

1998 • 498 citations

Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland

1990 • 479 citations

Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia

1998 • 420 citations

A mouse model for hereditary thyroid dysgenesis and cleft palate

1998 • 326 citations

Crystal structure of a paired domain-DNA complex at 2.5 å resolution reveals structural basis for pax developmental mutations

1995 • 325 citations

Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding

1999 • 305 citations

Pax-8, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters.

1992 • 298 citations

A filter paper dye-binding assay for quantitative determination of protein without interference from reducing agents or detergents

1990 • 266 citations

The Paired-Domain Transcription Factor Pax8 Binds to the Upstream Enhancer of the Rat Sodium/Iodide Symporter Gene and Participates in Both Thyroid-Specific and Cyclic-AMP-Dependent Transcription

1999 • 255 citations

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

1997 • 255 citations

Cooperative interactions between paired domain and homeodomain

1996 • 205 citations

Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.

1992 • 193 citations

A Search for the Possible Molecular Mechanisms of Thyroid Dysgenesis: Sex Ratios and Associated Malformations

1999 • 180 citations

Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties.

1993 • 150 citations

Defective Thyroglobulin Synthesis and Secretion Causing Goiter and Hypothyroidism *

1993 • 116 citations

Hypothyroidism in a Brazilian Kindred Due to Iodide Trapping Defect Caused by a Homozygous Mutation in the Sodium/Iodide Symporter Gene

1997 • 98 citations

Site-Specific Mutagenesis by Using an Accurate Recombinant Polymerase Chain Reaction Method

1996 • 90 citations

Mutations in the Gene EncodingThyroid Transcription Factor-1 (TTF-1) Are Not a Frequent Cause of Congenital Hypothyroidism (CH) with Thyroid Dysgenesis

1997 • 80 citations

Absence of Mutations in the Gene EncodingThyroid Transcription Factor-1 (TTF-1) in Patients with Thyroid Dysgenesis

1997 • 72 citations

Pax 8 expression in primary cultured dog thyrocyte is increased by cyclic AMP

1996 • 54 citations

Co-operation between the PAI and RED subdomains of Pax-8 in the interaction with the thyroglobulin promoter

1999 • 31 citations

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