Varaico: Literature-Extracted Genetic Variants

Gene:ALAD
Variant:p.K59N
Back to variants list

ALAD

NM_000031.6:p.K59N

Associated Papers

Genetic Modulation of Mercury Exposure on Perinatal and Birth Outcomes: A Systematic Review and Meta-Analysis of Gene-Environment Interactions.

Sadana AAS et al.

Journal of Xenobiotics, 2026

New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.

Di Pierro E et al.

Journal of Internal Medicine, 2026

Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria.

Roach AN et al.

European Journal of Human Genetics : Ejhg, 2025

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

Single-Nucleotide Polymorphisms Associated with Mercury Levels and Neurological Symptoms: An Overview.

Perini JA et al.

Toxics, 2024

Genetic susceptibility to low-level lead exposure in men: Insights from ALAD polymorphisms.

Stajnko A et al.

International Journal of Hygiene and Environmental Health, 2024

ALAD and APOE polymorphisms are associated with lead and mercury levels in Italian pregnant women and their newborns with adequate nutritional status of zinc and selenium.

Palir N et al.

Environmental Research, 2023

Modification by genetic polymorphism of lead-induced IQ alteration: a systematic review.

Lima LS et al.

Environmental Science and Pollution Research International, 2022

Genetic Risk Factors for Essential Tremor: A Review.

Siokas V et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2020

Effects of delta-Aminolevulinic Acid Dehydratase Gene Polymorphism on Hematological Parameters and Kidney Function of Lead-exposed Workers.

Siha MS et al.

The International Journal of Occupational and Environmental Medicine, 2019

Modifying effects of δ-Aminolevulinate dehydratase polymorphism on blood lead levels and ALAD activity.

Mani MS et al.

Toxicology Letters, 2018

Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Tang D et al.

Scientific Reports, 2018

30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf

Genetic polymorphisms in amyotrophic lateral sclerosis: Evidence for implication in detoxification pathways of environmental toxicants.

Dardiotis E et al.

Environment International, 2018

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › e__Freq_TP095

Delta-amino-levulinic acid dehydratase gene and essential tremor.

Agúndez JAG et al.

European Journal of Clinical Investigation, 2017

Lead-Related Genetic Loci, Cumulative Lead Exposure and Incident Coronary Heart Disease: The Normative Aging Study.

Ding N et al.

Plos One, 2016

Association between δ-aminolevulinate dehydratase G177C polymorphism and blood lead levels in brain tumor patients.

Taha MM et al.

Molecular and Clinical Oncology, 2015

Genome-wide association study of blood lead shows multiple associations near ALAD.

Warrington NM et al.

Human Molecular Genetics, 2015

No ALAD Polymorphism in Bank Vole Populations from Unpolluted and Lead-Zinc Polluted Areas in Poland.

Mikowska M et al.

Folia Biologica, 2015

Relationship among maternal blood lead, ALAD gene polymorphism and neonatal neurobehavioral development.

Yun L et al.

International Journal of Clinical and Experimental Pathology, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A7-A0CG-01A.domain

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Couthouis J et al.

Plos Genetics, 2014

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s010.xlsx › all_omim_evidence.csv

Influence of delta-aminolevulinic acid dehydratase gene polymorphism on selected lead exposure biomarkers in a cohort of ex-smelter workers.

Leroyer A et al.

Journal of Toxicology and Environmental Health. Part A, 2013

Genotoxic effects of occupational exposure to lead and influence of polymorphisms in genes involved in lead toxicokinetics and in DNA repair.

García-Lestón J et al.

Environment International, 2012

Effects of delta-aminolevulinic acid dehydratase polymorphisms on susceptibility to lead in Han subjects from southwestern China.

Yang Y et al.

International Journal of Environmental Research and Public Health, 2012

Lead, calcium uptake, and related genetic variants in association with renal cell carcinoma risk in a cohort of male Finnish smokers.

Southard EB et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2012

Associations of iron metabolism genes with blood manganese levels: a population-based study with validation data from animal models.

Claus Henn B et al.

Environmental Health : a Global Access Science Source, 2011

Blood lead levels, ALAD gene polymorphisms, and mortality.

van Bemmel DM et al.

Epidemiology (cambridge, Mass.), 2011

Comprehensive analysis of 5-aminolevulinic acid dehydrogenase (ALAD) variants and renal cell carcinoma risk among individuals exposed to lead.

van Bemmel DM et al.

Plos One, 2011

Association between blood lead and the risk of amyotrophic lateral sclerosis.

Fang F et al.

American Journal of Epidemiology, 2010

Ethnic variation in genotype frequencies of delta-aminolevulinic acid dehydratase (ALAD).

Fujihara J et al.

Toxicology Letters, 2009

Individual susceptibility and genotoxicity in workers exposed to hazardous materials like lead.

Shaik AP et al.

Journal of Hazardous Materials, 2009

Genetic background of lead and mercury metabolism in a group of medical students in Austria.

Gundacker C et al.

Environmental Research, 2009

Genetic polymorphisms in platelet-related proteins and coronary artery disease: investigation of candidate genes, including N-acetylgalactosaminyltransferase 4 (GALNT4) and sulphotransferase 1A1/2 (SULT1A1/2).

O'Halloran AM et al.

Journal of Thrombosis and Thrombolysis, 2009

Co-synthesis of Human delta-Aminolevulinate Dehydratase (ALAD) Mutants with the Wild-type Enzyme in Cell-free System-Critical Importance of Conformation on Enzyme Activity-.

Inoue R et al.

Journal of Clinical Biochemistry and Nutrition, 2008

A study on the ALAD gene polymorphisms associated with lead exposure.

Shaik AP et al.

Toxicology and Industrial Health, 2008

Association of lead exposure with survival in amyotrophic lateral sclerosis.

Kamel F et al.

Environmental Health Perspectives, 2008

[Gene defects identified in porphyrias and their participation in onset of this disease].

Akagi R et al.

Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2007

Effect modification by delta-aminolevulinic acid dehydratase, vitamin D receptor, and nitric oxide synthase gene polymorphisms on associations between patella lead and renal function in lead workers.

Weaver VM et al.

Environmental Research, 2006

A polymorphism in the delta-aminolevulinic acid dehydratase gene modifies plasma/whole blood lead ratio.

Montenegro MF et al.

Archives of Toxicology, 2006

Ethnicity affects the distribution of delta-aminolevulinic acid dehydratase (ALAD) genetic variants.

Montenegro MF et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006

Delta-aminolevulinic acid dehydratase polymorphism and risk of brain tumors in adults.

Rajaraman P et al.

Environmental Health Perspectives, 2005

Molecular analysis of delta-aminolevulinic acid dehydratase (ALAD) gene polymorphism in a Turkish population.

Süzen HS et al.

Biochemical Genetics, 2004

The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany.

Doss MO et al.

Journal of Inherited Metabolic Disease, 2004

Amyotrophic lateral sclerosis, lead, and genetic susceptibility: polymorphisms in the delta-aminolevulinic acid dehydratase and vitamin D receptor genes.

Kamel F et al.

Environmental Health Perspectives, 2003

Associations of Blood Lead Levels, Kidney Function, and Blood Pressure with delta-Aminolevulinic Acid Dehydratase and Vitamin D Receptor Gene Polymorphisms.

Xi-Biao Y et al.

Toxicology Mechanisms and Methods, 2003

Delta-aminolevulinic acid dehydratase genotype and lead toxicity: a HuGE review.

Kelada SN et al.

American Journal of Epidemiology, 2001

1–50 of 55 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."