Evidence map›Paper›PMID 22583432›Full record

ReviewCNS & neurological disorders drug targets2012

Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease.

Guney Bademci, Jeffery M Vance, Liyong Wang

Abstract readReview
In one paragraph

Review in CNS & neurological disorders drug targets, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
0.8field-weighted citation impact, top 24% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed, 31 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Review
  5. Article
  6. Article
  7. Involvement of GPR17 in Neuronal Fibre Outgrowth.International journal of molecular sciences · 2021
    Article
  8. Human tyrosine hydroxylase in Parkinson's disease and in related disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2019
    Review
  9. Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Complex molecular regulation of tyrosine hydroxylase.Journal of neural transmission (Vienna, Austria : 1996) · 2014
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 1 institution in 1 country.

Guney BademciUniversity of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, FL 33136, USA.
Jeffery M Vance
Liyong Wang
Dr. John T. Macdonald Foundation · US

Funding

Vitamin D Concentration, Genetic Modifiers, and Parkinson DiseaseP50NS071674 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI VANCE, JEFFERY MARVIN · 2010 to 2015
$10.2M
NINDS NIH HHS NS071674NINDS NIH HHS P50 NS071674
6 · The paper itself

Abstract

The tyrosine hydroxylase (TH) gene encodes a monoxygenase that catalyzes the rate limiting step in dopamine biosynthesis. A hallmark of Parkinson's disease (PD) is the loss of dopaminergic neurons in the substantia nigra. Consistent with the essential role of TH in dopamine homeostasis, missense mutations in both alleles of TH have been associated with severe Parkinsonism-related phenotypes including infantile Parkinsonism. It has been speculated for a long time that genetic variants in the TH gene modify adult-onset PD susceptibility but the answer has not been clear. Genetic variants (both sequence variations and structural variations) can be classified into three categories based on their relative frequency in population: common variants (polymorphisms), rare variants and mutations. Each of these factors has a different mode in influencing the genetic risk and often requires different approaches to decipher their contributions to the disease. In the past few years, the revolutionary advances in genomic technology have allowed systematic evaluations of these genetic variants in PD, such as the genome-wide association study (GWAS, to survey common variants), copy number variation analysis (to detect structural variations), and massive parallel next generation sequencing (to detect rare variants and mutations). In this review, we have summarized the latest evidence on TH genetic variants in PD, including our ongoing effort of using whole exome sequencing to search for rare variants in PD patients.

Indexed as

DNA Copy Number VariationsAnimalsDopaminergic NeuronsGenome-Wide Association StudyHumansParkinson DiseasePolymorphism, GeneticTyrosine 3-MonooxygenaseTyrosine 3-Monooxygenase

Identifiers

PMID22583432
PMCPMC3973181
OpenAlexW2171593997

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.