Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2015 1
2016 2
2017 7
2018 5
2019 4
2020 5
2021 10
2022 2
2023 7
2024 2
2025 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

36 results

Results by year

Filters applied: . Clear all
Page 1
Diagnosis and Management of Central Congenital Hypothyroidism.
Lauffer P, Zwaveling-Soonawala N, Naafs JC, Boelen A, van Trotsenburg ASP. Lauffer P, et al. Front Endocrinol (Lausanne). 2021 Sep 9;12:686317. doi: 10.3389/fendo.2021.686317. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34566885 Free PMC article. Review.
Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation by the pituitary of the thyroid gland. ...
Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation …
Human tyrosine hydroxylase in Parkinson's disease and in related disorders.
Nagatsu T, Nakashima A, Ichinose H, Kobayashi K. Nagatsu T, et al. J Neural Transm (Vienna). 2019 Apr;126(4):397-409. doi: 10.1007/s00702-018-1903-3. Epub 2018 Jul 11. J Neural Transm (Vienna). 2019. PMID: 29995172 Review.
However, this decrease in TH is thought to be secondary due to neurodegeneration of DA neurons caused by some as yet unidentified genetic and environmental factors, and thus, TH deficiency may not play a direct role in PD. This manuscript provides an overview of the …
However, this decrease in TH is thought to be secondary due to neurodegeneration of DA neurons caused by some as yet unidentified genetic an …
Dopa-responsive dystonia caused by tyrosine hydroxylase deficiency: Three cases report and literature review.
Dong HY, Feng JY, Yue XJ, Shan L, Jia FY. Dong HY, et al. Medicine (Baltimore). 2020 Aug 14;99(33):e21753. doi: 10.1097/MD.0000000000021753. Medicine (Baltimore). 2020. PMID: 32872068 Free PMC article. Review.
RATIONAL: Tyrosine hydroxylase deficiency (THD) is a rare cause of dopa-responsive dystonia (DRD). ...DIAGNOSIS: The diagnosis of dopa-responsive dystonia caused by tyrosine hydroxylase deficiency was determined by whole exome sequencing. …
RATIONAL: Tyrosine hydroxylase deficiency (THD) is a rare cause of dopa-responsive dystonia (DRD). ...DIAGNOSIS: The di …
Structural recognition and stabilization of tyrosine hydroxylase by the J-domain protein DNAJC12.
Tai MDS, Ochoa L, Flydal MI, Velasco-Carneros L, Muntaner J, Santiago C, Gamiz-Arco G, Moro F, Jung-Kc K, Gil-Cantero D, Marcilla M, Kallio JP, Muga A, Valpuesta JM, Cuéllar J, Martinez A. Tai MDS, et al. Nat Commun. 2025 Mar 20;16(1):2755. doi: 10.1038/s41467-025-57733-6. Nat Commun. 2025. PMID: 40113792 Free PMC article.
In this work, we characterize the formation of the TH:DNAJC12 complex, showing that DNAJC12 binding stabilizes both TH and the variant TH-p.R202H, associated with TH deficiency. This binding delays their time-dependent aggregation in an Hsp70-independent manner, whi …
In this work, we characterize the formation of the TH:DNAJC12 complex, showing that DNAJC12 binding stabilizes both TH and the variant TH-p. …
Imprinting of maternal thyroid hormones in the offspring.
Opazo MC, Haensgen H, Bohmwald K, Venegas LF, Boudin H, Elorza AA, Simon F, Fardella C, Bueno SM, Kalergis AM, Riedel CA. Opazo MC, et al. Int Rev Immunol. 2017 Jul 4;36(4):240-255. doi: 10.1080/08830185.2016.1277216. Epub 2017 Mar 8. Int Rev Immunol. 2017. PMID: 28272924 Review.
The function of CNS in the offspring gestated under TH deficiency will be irreversible impaired, causing low intellectual quotient, attention deficit, and mental retardation. On the other hand, little is known about the effects of TH deficiency in the …
The function of CNS in the offspring gestated under TH deficiency will be irreversible impaired, causing low intellectual quot …
Neonatal screening for primary and central congenital hypothyroidism: is it time to go Dutch?
Boelen A, Zwaveling-Soonawala N, Heijboer AC, van Trotsenburg ASP. Boelen A, et al. Eur Thyroid J. 2023 Jul 27;12(4):e230041. doi: 10.1530/ETJ-23-0041. Eur Thyroid J. 2023. PMID: 37326450 Free PMC article. Review.
Thyroid hormone (TH) is indispensable for brain development in utero and during the first 2-3 years of life, and the negative effects of TH deficiency on brain development are irreversible. Detection of TH deficiency early in life by neonatal screening …
Thyroid hormone (TH) is indispensable for brain development in utero and during the first 2-3 years of life, and the negative effects of …
Comparative approaches to understanding thyroid hormone regulation of neurogenesis.
Gothié JD, Demeneix B, Remaud S. Gothié JD, et al. Mol Cell Endocrinol. 2017 Dec 25;459:104-115. doi: 10.1016/j.mce.2017.05.020. Epub 2017 May 22. Mol Cell Endocrinol. 2017. PMID: 28545819 Review.
Thyroid hormone (TH) signalling, an evolutionary conserved pathway, is crucial for brain function and cognition throughout life, from early development to ageing. In humans, TH deficiency during pregnancy alters offspring brain development, increasing the risk of co …
Thyroid hormone (TH) signalling, an evolutionary conserved pathway, is crucial for brain function and cognition throughout life, from early …
Tetrahydrobiopterin (BH(4)) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model.
Jung-Kc K, Tristán-Noguero A, Altankhuyag A, Piñol Belenguer D, Prestegård KS, Fernandez-Carasa I, Colini Baldeschi A, Sigatulina Bondarenko M, García-Cazorla A, Consiglio A, Martinez A. Jung-Kc K, et al. J Inherit Metab Dis. 2024 May;47(3):494-508. doi: 10.1002/jimd.12702. Epub 2024 Jan 9. J Inherit Metab Dis. 2024. PMID: 38196161 Free article.
Variants of the TH gene are associated with tyrosine hydroxylase deficiency (THD), a rare disorder with a wide phenotypic spectrum and variable response to treatment, which affects protein stability and may lead to accelerated degradation, loss of TH function …
Variants of the TH gene are associated with tyrosine hydroxylase deficiency (THD), a rare disorder with a wide phenotyp …
Influence of maternal thyroid hormones during gestation on fetal brain development.
Moog NK, Entringer S, Heim C, Wadhwa PD, Kathmann N, Buss C. Moog NK, et al. Neuroscience. 2017 Feb 7;342:68-100. doi: 10.1016/j.neuroscience.2015.09.070. Epub 2015 Oct 3. Neuroscience. 2017. PMID: 26434624 Free PMC article. Review.
The fetal thyroid gland does not commence TH synthesis until mid gestation, and the adverse consequences of severe maternal TH deficiency on offspring neurodevelopment are well established. Recent evidence suggests that even more moderate forms of maternal thyroid d …
The fetal thyroid gland does not commence TH synthesis until mid gestation, and the adverse consequences of severe maternal TH def …
36 results