Associated Papers
Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes.
Antikainen AA et al.
Scientific Reports, 2024
Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).
Rieneck K et al.
Plos One, 2023
37862305 (PubMed )
Supplement: pone.0286432.s010.xlsx › Ark1
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___
Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability.
Teekakirikul P et al.
Cell Reports. Medicine, 2022
35243414 (PubMed )
Supplement: mmc2.xlsx › SupplementalSheet
Sequence and Structure-Based Analyses of Human Ankyrin Repeats.
Chakrabarty B et al.
Molecules (basel, Switzerland), 2022
35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1
A Grammastola spatulata mechanotoxin-4 (GsMTx4)-sensitive cation channel mediates increased cation permeability in human hereditary spherocytosis of multiple genetic etiologies.
Vandorpe DH et al.
Haematologica, 2021
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the Literature.
Luo Y et al.
Acta Haematologica, 2018
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-A8-A091-01A.domain
Causes of hemolysis in neonates with extreme hyperbilirubinemia.
Christensen RD et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2014
Hereditary Red Cell Membrane Disorders in Japan: Their Genotypic and Phenotypic Features in 1014 Cases Studied.
Yawata Y et al.
Hematology (amsterdam, Netherlands), 2001
[Gene analysis of hereditary red cell membrane disorders].
Kanzaki A
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1998
Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.
Eber SW et al.
Nature Genetics, 1996
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