The Pathogenic TSH β-subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR.

Cell Line, Tumor Congenital Hypothyroidism / genetics Cyclic AMP / genetics Extracellular Signal-Regulated MAP Kinases / genetics GTP-Binding Protein alpha Subunits, Gq-G11 / genetics HEK293 Cells Humans MAP Kinase Signaling System Mutation Protein Domains Receptors, Thyrotropin / chemistry Second Messenger Systems Thyrotropin, beta Subunit / chemistry
G-protein coupled receptors TSHR central congenital hypothyroidism thyroid-stimulating hormone

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
07 Nov 2019
Historique:
received: 01 01 1970
revised: 01 11 2019
accepted: 03 11 2019
entrez: 10 11 2019
pubmed: 11 11 2019
medline: 26 3 2020
Statut: epublish

Résumé

1) Background: Central congenital hypothyroidism (CCH) is a rare endocrine disorder that can be caused by mutations in the β-subunit of thyrotropin (

Identifiants

DOI: 10.3390/ijms20225564 PMID: 31703413 PMC: PMC6888357
pubmed: 31703413
pii: ijms20225564
doi: 10.3390/ijms20225564
pmc: PMC6888357
pii:
doi:

Substances chimiques

Receptors, Thyrotropin 0
TSHR protein, human 0
Thyrotropin, beta Subunit 0
Cyclic AMP E0399OZS9N
Extracellular Signal-Regulated MAP Kinases EC 2.7.11.24
GTP-Binding Protein alpha Subunits, Gq-G11 EC 3.6.5.1

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Déclaration de conflit d'intérêts

The authors declare no conflict of interest.

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Auteurs

Laura Kalveram (L)

Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.

Gunnar Kleinau (G)

Institute of Medical Physics and Biophysics, Group Protein X-ray Crystallography and Signal Transduction, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 10117 Berlin, Germany.

Kamila Szymańska (K)

Department of Biochemistry and Molecular Biology, Medical University of Lublin, 20-093 Lublin, Poland.

Patrick Scheerer (P)

Institute of Medical Physics and Biophysics, Group Protein X-ray Crystallography and Signal Transduction, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 10117 Berlin, Germany.

Adolfo Rivero-Müller (A)

Department of Biochemistry and Molecular Biology, Medical University of Lublin, 20-093 Lublin, Poland.

Annette Grüters-Kieslich (A)

Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.

Heike Biebermann (H)

Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.

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Classifications MeSH

questionsmedicales.fr › Cellules › Cellules cultivées › Cellules cancéreuses en culture › Lignée cellulaire tumorale › The Pathogenic TSH β-subunit Variant...
questionsmedicales.fr › Maladies endocriniennes › Maladies de la thyroïde › Hypothyroïdie › Hypothyroïdie congénitale › The Pathogenic TSH β-subunit Variant...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Nucléotides › Ribonucléotides › Nucléotides adényliques › AMP cyclique › The Pathogenic TSH β-subunit Variant...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protein-Serine-Threonine Kinases › Mitogen-Activated Protein Kinases › Extracellular Signal-Regulated MAP Kinases › The Pathogenic TSH β-subunit Variant...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines G hétérotrimériques › Sous-unités alpha des protéines G › Sous-unités alpha Gq-G11 des protéines G › The Pathogenic TSH β-subunit Variant...
questionsmedicales.fr › Cellules › Cellules épithéliales › Cellules HEK293 › The Pathogenic TSH β-subunit Variant...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The Pathogenic TSH β-subunit Variant...
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Transduction du signal › Système de signalisation des MAP kinases › The Pathogenic TSH β-subunit Variant...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › The Pathogenic TSH β-subunit Variant...
questionsmedicales.fr › Phénomènes chimiques › Phénomènes biochimiques › Conformation moléculaire › Conformation des protéines › Structure tertiaire des protéines › Domaines protéiques › The Pathogenic TSH β-subunit Variant...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs peptidiques › Récepteur hormone hypophysaire › Récepteur TSH › The Pathogenic TSH β-subunit Variant...
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Transduction du signal › Systèmes de seconds messagers › The Pathogenic TSH β-subunit Variant...
questionsmedicales.fr › Acides aminés, peptides et protéines › Peptides › Hormones peptidiques › Hormones hypophysaires › Hormones antéhypophysaires › Thyréostimuline › Sous-unité bêta de la thyrotropine › The Pathogenic TSH β-subunit Variant...