Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid - Test2 - elhamkhani - TriplyDB

Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid

Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid

http://www.wikidata.org/entity/Q24303392

about

The Solution Structure of DNA-free Pax-8 Paired Box Domain Accounts for Redox Regulation of Transcriptional Activity in the Pax Protein Family Thyroid transcription factors in development, differentiation and disease Complete activation of thyroid hormone receptor β by T3 is essential for normal cochlear function and morphology in mice.Congenital urogenital abnormalities in children with congenital hypothyroidism.TRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM.Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.Detection and treatment of congenital hypothyroidism.Genetics of congenital hypothyroidism Thyroid-specific inactivation of KIF3A alters the TSH signaling pathway and leads to hypothyroidism.A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis.Congenital anomalies of kidney and upper urinary tract in children with congenital hypothyroidism; a case-control study.Analysis of the T354P mutation of the sodium/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis.Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms Increased prevalence of renal and urinary tract anomalies in children with congenital hypothyroidism.A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals.Rtfc (4931414P19Rik) Regulates in vitro Thyroid Differentiation and in vivo Thyroid Function.Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.Newborn screening and renal disease: where we have been; where we are now; where we are going.Genetic, environmental, and epigenetic factors involved in CAKUT.A Gene Implicated in Activation of Retinoic Acid Receptor Targets is a Novel Renal Agenesis Gene in Humans.Resistance to thyrotropin.Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant.Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect.Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant.Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany.Wnt Signaling in Thyroid Homeostasis and Carcinogenesis.Somatic mutations and increased lymphangiogenesis observed in a rare case of intramucosal gastric carcinoma with lymph node metastasis.Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands.Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis.

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P2860

Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid

http://www.wikidata.org/entity/Q24303392

description

2004 nî lūn-bûn

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2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2004年论文

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Characterization of a novel lo ...... in-place, normal-sized thyroid

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Characterization of a novel lo ...... in-place, normal-sized thyroid

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Characterization of a novel lo ...... in-place, normal-sized thyroid

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Characterization of a novel lo ...... in-place, normal-sized thyroid

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The Journal of Clinical Endocrinology and Metabolism

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Characterization of a novel lo ...... in-place, normal-sized thyroid

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Anne Lienhardt Roussie

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Brigitte Gilbert

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Catheline Vilain

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Daniel Christophe

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Jasmine Parma

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Laurent Meeus

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Sabine Costagliola

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10.1210/JC.2004-0166

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15356023

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regulation of thyroid-stimulating hormone secretion