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 Risk Factors for Essential Tremor: A Review.

Siokas V et al.

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

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

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

Ding N et al.

Plos One, 2016

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

Warrington NM et al.

Human Molecular Genetics, 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

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

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

Fang F et al.

American Journal of Epidemiology, 2010

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

Association of lead exposure with survival in amyotrophic lateral sclerosis.

Kamel F et al.

Environmental Health Perspectives, 2008

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

Detection of novel ALAD gene polymorphisms using denaturing high-performance liquid chromatography.

Niu T et al.

Human Biology, 2001

Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria.

Akagi R et al.

Blood, 2000

A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity.

Akagi R et al.

British Journal of Haematology, 1999

[delta-Aminolevulinate dehydratase deficiency].

Fujita H et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1995

Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning.

Wetmur JG et al.

American Journal of Human Genetics, 1991

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."