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    ANK1 ankyrin 1 [ Homo sapiens (human) ]

    Gene ID: 286, updated on 1-Jul-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes.

    Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes.
    Antikainen AA, Haukka JK, Kumar A, Syreeni A, Hägg-Holmberg S, Ylinen A, Kilpeläinen E, Kytölä A, Palotie A, Putaala J, Thorn LM, Harjutsalo V, Groop PH, Sandholm N, FinnDiane Study Group., Free PMC Article

    06/25/2024
    Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans.

    Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans.
    Lu Z, Zhang H, Yang Y, Zhao H.

    07/21/2023
    Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.

    Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.
    More TA, Devendra R, Dongerdiye R, Warang P, Kedar P.

    02/24/2023
    De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing.

    De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing.
    Wang Y, Huang L, Zhu Y, An X, Li J, Zhen J, Yu J., Free PMC Article

    01/21/2023
    A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family.

    A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family.
    Xu L, Wei X, Liang G, Zhu D, Zhang Y, Zhang Y, Shang X.

    12/3/2022
    Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients.

    Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients.
    Mansour-Hendili L, Flamarion E, Michel M, Morbieu C, Gameiro C, Sloma I, Badaoui B, Darnige L, Camard M, Lunati-Rozie A, Aissat A, Tarfi S, Friedrich C, Picard V, Garçon L, Abermil N, Kaltenbach S, Radford-Weiss I, Kosmider O, Fanen P, Bartolucci P, Godeau B, Galactéros F, Funalot B.

    07/16/2022
    The SNP rs516946 Interacted in the Association of MetS with Dietary Iron among Chinese Males but Not Females.

    The SNP rs516946 Interacted in the Association of MetS with Dietary Iron among Chinese Males but Not Females.
    Zhu Z, Wang Z, Zang J, Lu Y, Xiao Z, Zheng G, Wu F., Free PMC Article

    06/11/2022
    Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.

    Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.
    Xie F, Lei L, Cai B, Gan L, Gao Y, Liu X, Zhou L, Jiang J., Free PMC Article

    12/11/2021
    Human ankyrins and their contribution to disease biology: An update.

    Human ankyrins and their contribution to disease biology: An update.
    Sharma N, Bham K, Senapati S.

    10/2/2021
    A clinical and experimental study of adult hereditary spherocytosis in the Chinese population.

    A clinical and experimental study of adult hereditary spherocytosis in the Chinese population.
    Xue J, He Q, Xie XJ, Su AL, Cao SB.

    07/17/2021
    Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report.

    Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report.
    Chai S, Jiao R, Sun X, Fu P, Zhao Q, Sang M., Free PMC Article

    01/9/2021
    ANK1 loss-of-function mutations are associated with hereditary spherocytosis.

    Two novel ANK1 loss-of-function mutations in Chinese families with hereditary spherocytosis.
    Hao L, Li S, Ma D, Chen S, Zhang B, Xiao D, Zhang J, Jiang N, Jiang S, Ma J., Free PMC Article

    08/1/2020
    The conserved aspartic acid residue at the C-terminus of the MEC motif for MESA binding to erythrocyte ANK1.

    The Plasmodium falciparum MESA erythrocyte cytoskeleton-binding (MEC) motif binds to erythrocyte ankyrin.
    Kilili GK, Shakya B, Dolan PT, Wang L, Husby ML, Stahelin RV, Nakayasu ES, LaCount DJ., Free PMC Article

    06/13/2020
    By SDS-PAGE and sequenced the ANK1 gene.

    A tetranucleotide deletion in the ANK1 gene causes hereditary spherocytosis; a case of misdiagnosis.
    Zhu F, Liang M, Xu L, Peng Z, Cai D, Wei X, Lin L, Shang X.

    01/11/2020
    ANK1 is characterized by region and disease-specific differential DNA methylation in multiple neurodegenerative diseases.

    A cross-brain regions study of ANK1 DNA methylation in different neurodegenerative diseases.
    Smith AR, Smith RG, Burrage J, Troakes C, Al-Sarraj S, Kalaria RN, Sloan C, Robinson AC, Mill J, Lunnon K.

    11/30/2019
    The c.247delG mutation in ANK1 caused hereditary spherocytosis type I in this family

    [Analysis of ANK1 gene mutation in a family with hereditary spherocytosis type Ⅰ].
    Li D, Li B, Li S, Li W, Wang Y, Guo X.

    11/2/2019
    The current meta-analysis suggests that ANKK1 Taq1A and DRD2 C957T polymorphisms have limited if any effect on the performance on executive function tasks in healthy adults.

    The effect of ANKK1 Taq1A and DRD2 C957T polymorphisms on executive function: A systematic review and meta-analysis.
    Klaus K, Butler K, Curtis F, Bridle C, Pennington K.

    06/29/2019
    High-throughput sequencing revealed ANK1 gene mutations in patients 1 to 3, namely c.3398(exon29)delA, c.4306C>T and c.957(exon9)_c.961(exon9)delAATCT, among which c.3398(exon29)delA had not been reported before

    [Clinical characteristics and genetic analysis of hereditary spherocytosis caused by mutations of ANK1 and SPTB genes].
    Gong J, He XL, Zou RY, Chen KK, You YL, Zou H, Tian X, Zhu CG., Free PMC Article

    04/27/2019
    Our finding suggested that a de novo nonsense mutation in ANK1 may be causative to HS which plays an important role in supplementing the mutational spectrum of the ANK1 and explaining the mechanism of HS.

    Identification of a de novo ANK1 mutation in a Chinese family with hereditary spherocytosis.
    Guan H, Liang X, Zhang R, Wang H, Liu W, Zhang R, Yang J, Liu S.

    09/29/2018
    ANK1 rs508419-C type 2 diabetes (T2D)-risk allele alters DNA-protein complex binding leading to increased promoter activity and sAnk1 expression; thus, increased sAnk1 expression in skeletal muscle might contribute to T2D susceptibility.

    A novel type 2 diabetes risk allele increases the promoter activity of the muscle-specific small ankyrin 1 gene.
    Yan R, Lai S, Yang Y, Shi H, Cai Z, Sorrentino V, Du H, Chen H., Free PMC Article

    03/3/2018
    rs515071 in ANK1 is a novel genetic risk for late-onset Alzheimer's disease susceptibility in Han Chinese.

    Association of Single-Nucleotide Polymorphism in ANK1 with Late-Onset Alzheimer's Disease in Han Chinese.
    Chi S, Song JH, Tan MS, Zhang W, Wang ZX, Jiang T, Tan L, Yu JT.

    01/27/2018
    The present study demonstrates that ANK1 is aberrantly expressed in pancreatic adenocarcinomas in association with promoter hypomethylation

    Overexpression of ankyrin1 promotes pancreatic cancer cell growth.
    Omura N, Mizuma M, MacGregor A, Hong SM, Ayars M, Almario JA, Borges M, Kanda M, Li A, Vincent A, Maitra A, Goggins M., Free PMC Article

    01/20/2018
    Transient Receptor Potential Vanniloid-1 channel (TRPV-1) has a role in the cough reflex and airway expression is increased in patients with chronic cough. The Ankyrin-1 receptor (TRPA-1) is often co-expressed

    Airway expression of Transient Receptor Potential (TRP) Vanniloid-1 and Ankyrin-1 channels is not increased in patients with Idiopathic Pulmonary Fibrosis.
    Hutchinson NX, Gibbs A, Tonks A, Hope-Gill BD., Free PMC Article

    12/30/2017
    Aberrant ANK1 methylation is highly prevalent in lung cancer, discriminate tumors by histology and patients' smoking history, and contributes to miR-486-5p repression.

    ANK1 Methylation regulates expression of MicroRNA-486-5p and discriminates lung tumors by histology and smoking status.
    Tessema M, Yingling CM, Picchi MA, Wu G, Ryba T, Lin Y, Bungum AO, Edell ES, Spira A, Belinsky SA., Free PMC Article

    11/26/2017
    Study shows that Ankyrin-1 forms a high-affinity interaction with AE1 tetramers but does not associate with AE1 dimers in erythrocyte membranes.

    Full-Length Anion Exchanger 1 Structure and Interactions with Ankyrin-1 Determined by Zero Length Crosslinking of Erythrocyte Membranes.
    Rivera-Santiago R, Harper SL, Sriswasdi S, Hembach P, Speicher DW., Free PMC Article

    10/21/2017
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