TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice

Identification of anIGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism

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HESX1mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype

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Mutations in TBL1X Are Associated With Central Hypothyroidism

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IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

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Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome

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How specific is CRISPR/Cas9 really?

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60 YEARS OF NEUROENDOCRINOLOGY: TRH, the first hypophysiotropic releasing hormone isolated: control of the pituitary–thyroid axis: Figure 2

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Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat

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Life Without the Iodothyronine Deiodinases

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IGSF1 variants in boys with familial delayed puberty

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An Acute Injection of Corticosterone Increases Thyrotrophin-Releasing Hormone Expression in the Paraventricular Nucleus of the Hypothalamus but Interferes with the Rapid Hypothalamus Pituitary Thyroid Axis Response to Cold in Male Rats

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Thyroid Hormone Signaling In Vivo Requires a Balance between Coactivators and Corepressors

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Changes in Thyroid Status During Perinatal Development of MCT8-Deficient Male Mice

(2013) Alfonso Massimiliano Ferrara et al.   ENDOCRINOLOGY

The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients

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Three NovelIGSF1Mutations in Four Japanese Patients With X-Linked Congenital Central Hypothyroidism

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DNA targeting specificity of RNA-guided Cas9 nucleases

(2013) Patrick D Hsu et al.   NATURE BIOTECHNOLOGY

High-frequency off-target mutagenesis induced by CRISPR-Cas nucleases in human cells

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Multiplex Genome Engineering Using CRISPR/Cas Systems

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Central Hypothyroidism: Pathogenic, Diagnostic, and Therapeutic Challenges

(2012) Luca Persani   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

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A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity

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The Nuclear Receptor Corepressor (NCoR) Controls Thyroid Hormone Sensitivity and the Set Point of the Hypothalamic-Pituitary-Thyroid Axis

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A Mutation in the Thyroid Hormone Receptor Alpha Gene

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Genetic forms of hypopituitarism and their manifestation in the neonatal period

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Loss-of-Function Mutations in the Thyrotropin Receptor Gene as a Major Determinant of Hyperthyrotropinemia in a Consanguineous Community

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Cellular and Molecular Basis of Deiodinase-Regulated Thyroid Hormone Signaling1

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An Internal Signal Sequence Directs Intramembrane Proteolysis of a Cellular Immunoglobulin Domain Protein

(2008) Thalia Robakis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Central hypothyroidism

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Mechanisms related to the pathophysiology and management of central hypothyroidism

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