Varaico: Literature-Extracted Genetic Variants

Gene:HDC
Variant:p.W317*
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HDC

NM_002112.4:p.W317*

Associated Papers

Molecular Landscape of Tourette's Disorder.

Widomska J et al.

International Journal of Molecular Sciences, 2023

36674940 (PubMed )
Supplement: ijms-24-01428-s001.zip › supplementary_Table_S1.xlsx › Sheet1

Incompatibilities between common mtDNA variants in human disease.

Pu W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation.

Schaefer PM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.

Chan AJS et al.

Nature Communications, 2022

36309498 (PubMed )
Supplement: 41467_2022_34112_MOESM4_ESM.xlsx › SupData_5

Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders.

Lintas C et al.

Genes, 2022

Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome-Where Are We?

Levy AM et al.

Genes, 2021

34573303 (PubMed )
Supplement: genes-12-01321-s001.zip › genes-1240846-supplementary.pdf

Cysteine 180 Is a Redox Sensor Modulating the Activity of Human Pyridoxal 5'-Phosphate Histidine Decarboxylase.

Rossignoli G et al.

Biochemistry, 2018

The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family.

Sun N et al.

Molecular Psychiatry, 2018

Tourette disorder and other tic disorders.

Fernandez TV et al.

Handbook of Clinical Neurology, 2018

Genetic variation associated with the occurrence and progression of neurological disorders.

Little J et al.

Neurotoxicology, 2017

Gilles de la Tourette syndrome.

Robertson MM et al.

Nature Reviews. Disease Primers, 2017

Histidine Decarboxylase Knockout Mice as a Model of the Pathophysiology of Tourette Syndrome and Related Conditions.

Pittenger C

Handbook of Experimental Pharmacology, 2017

Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder.

Sun N et al.

Frontiers in Psychiatry, 2016

Investigation of a Possible Role for the Histidine Decarboxylase Gene in Tourette Syndrome in the Chinese Han Population: A Family-Based Study.

Dong H et al.

Plos One, 2016

Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology.

Alexander J et al.

Frontiers in Neuroscience, 2016

The Inheritance of Tourette Disorder: A review.

Pauls DL et al.

Journal of Obsessive-compulsive and Related Disorders, 2014

Histidine decarboxylase deficiency causes tourette syndrome: parallel findings in humans and mice.

Baldan LC et al.

Neuron, 2014

Mouse models of neurodevelopmental disease of the basal ganglia and associated circuits.

Pappas SS et al.

Current Topics in Developmental Biology, 2014

The role of histamine in the retina: studies on the Hdc knockout mouse.

Greferath U et al.

Plos One, 2014

Support of the histaminergic hypothesis in Tourette syndrome: association of the histamine decarboxylase gene in a large sample of families.

Karagiannidis I et al.

Journal of Medical Genetics, 2013

The genetic basis of Gilles de la Tourette Syndrome.

Paschou P

Neuroscience and Biobehavioral Reviews, 2013

Genetic susceptibility and neurotransmitters in Tourette syndrome.

Paschou P et al.

International Review of Neurobiology, 2013

Gene expression changes in peripheral blood from Chinese Han patients with Tourette syndrome.

Lei J et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2012

The genetics of Tourette syndrome.

Deng H et al.

Nature Reviews. Neurology, 2012

[Searching for Tourette's syndrome gene. Part 2. Patient's genome variability].

Kowalska A et al.

Postepy Higieny I Medycyny Doswiadczalnej (online), 2012

Mutation screening of the HDC gene in Chinese Han patients with Tourette syndrome.

Lei J et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2012

The genetics of child psychiatric disorders: focus on autism and Tourette syndrome.

State MW

Neuron, 2010

L-histidine decarboxylase and Tourette's syndrome.

Ercan-Sencicek AG et al.

The New England Journal of Medicine, 2010

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