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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
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1993 5
1994 3
1995 5
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1998 7
1999 2
2000 5
2001 2
2002 3
2003 4
2004 3
2005 3
2006 6
2007 4
2008 3
2009 2
2010 8
2011 8
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2013 8
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2015 6
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2024 15

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269 results

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Page 1
Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives.
He BJ, Liao L, Deng ZF, Tao YF, Xu YC, Lin FQ. He BJ, et al. Acta Haematol. 2018;139(1):60-66. doi: 10.1159/000486229. Epub 2018 Jan 22. Acta Haematol. 2018. PMID: 29402830 Free article. Review.
With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1, SPTB, ANK1, SLC4A1, and EPB42. However, mutations in HS-related genes are dispersed and nons …
With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-relat …
Identification of type 2 diabetes loci in 433,540 East Asian individuals.
Spracklen CN, Horikoshi M, Kim YJ, Lin K, Bragg F, Moon S, Suzuki K, Tam CHT, Tabara Y, Kwak SH, Takeuchi F, Long J, Lim VJY, Chai JF, Chen CH, Nakatochi M, Yao J, Choi HS, Iyengar AK, Perrin HJ, Brotman SM, van de Bunt M, Gloyn AL, Below JE, Boehnke M, Bowden DW, Chambers JC, Mahajan A, McCarthy MI, Ng MCY, Petty LE, Zhang W, Morris AP, Adair LS, Akiyama M, Bian Z, Chan JCN, Chang LC, Chee ML, Chen YI, Chen YT, Chen Z, Chuang LM, Du S, Gordon-Larsen P, Gross M, Guo X, Guo Y, Han S, Howard AG, Huang W, Hung YJ, Hwang MY, Hwu CM, Ichihara S, Isono M, Jang HM, Jiang G, Jonas JB, Kamatani Y, Katsuya T, Kawaguchi T, Khor CC, Kohara K, Lee MS, Lee NR, Li L, Liu J, Luk AO, Lv J, Okada Y, Pereira MA, Sabanayagam C, Shi J, Shin DM, So WY, Takahashi A, Tomlinson B, Tsai FJ, van Dam RM, Xiang YB, Yamamoto K, Yamauchi T, Yoon K, Yu C, Yuan JM, Zhang L, Zheng W, Igase M, Cho YS, Rotter JI, Wang YX, Sheu WHH, Yokota M, Wu JY, Cheng CY, Wong TY, Shu XO, Kato N, Park KS, Tai ES, Matsuda F, Koh WP, Ma RCW, Maeda S, Millwood IY, Lee J, Kadowaki T, Walters RG, Kim BJ, Mohlke KL, Sim X. Spracklen CN, et al. Nature. 2020 Jun;582(7811):240-245. doi: 10.1038/s41586-020-2263-3. Epub 2020 May 6. Nature. 2020. PMID: 32499647 Free PMC article.
Previously undescribed associations include signals in or near GDAP1, PTF1A, SIX3, ALDH2, a microRNA cluster, and genes that affect the differentiation of muscle and adipose cells(3). At another locus, expression quantitative trait loci at two overlapping T2D signals affec …
Previously undescribed associations include signals in or near GDAP1, PTF1A, SIX3, ALDH2, a microRNA cluster, and genes that affect t …
Genotype-phenotype correlation in children with hereditary spherocytosis.
Tole S, Dhir P, Pugi J, Drury LJ, Butchart S, Fantauzzi M, Langer JC, Baker JM, Blanchette VS, Kirby-Allen M, Carcao MD. Tole S, et al. Br J Haematol. 2020 Nov;191(3):486-496. doi: 10.1111/bjh.16750. Epub 2020 May 20. Br J Haematol. 2020. PMID: 32436265 Free article.
In 160/166 (97%) children with HS a disease-causing mutation was identified. Pathogenic variants in ANK1, SPTB, SLC4A1 and SPTA1 were found in 49%, 33%, 13% and 5% of patients. ...Conversely, children with autosomal recessive SPTA1-HS had the most severe clinical phenotype …
In 160/166 (97%) children with HS a disease-causing mutation was identified. Pathogenic variants in ANK1, SPTB, SLC4A1 and SPTA1 were …
The Potential of ANK1 to Predict Parkinson's Disease.
Xue J, Li F, Dai P. Xue J, et al. Genes (Basel). 2023 Jan 15;14(1):226. doi: 10.3390/genes14010226. Genes (Basel). 2023. PMID: 36672967 Free PMC article.
Ankyrin 1 (ANK1) was the only common gene differentially down-regulated in lateral substantia nigra (LSN), medial substantia nigra (MSN) and blood. Additionally, DEGs between high ANK1 and low ANK1 in GSE99039 were picked out and then uploaded to the D …
Ankyrin 1 (ANK1) was the only common gene differentially down-regulated in lateral substantia nigra (LSN), medial substantia n …
Sequence and haplotypes of ankyrin 1 gene (ANK1) and their association with carcass and meat quality traits in yak.
Hu J, Gao X, Shi B, Chen H, Zhao Z, Wang J, Liu X, Li S, Luo Y. Hu J, et al. Mamm Genome. 2021 Apr;32(2):104-114. doi: 10.1007/s00335-021-09861-9. Epub 2021 Mar 2. Mamm Genome. 2021. PMID: 33655403
Ankyrin 1 (ANK1) gene has been demonstrated to be a functional candidate gene for meat quality that helps to constitute and maintain the structure of the cell skeleton. ...The presence of one and two copies of B(1)-B(3) and C(1)-A(3) had decreased Warner-Brat …
Ankyrin 1 (ANK1) gene has been demonstrated to be a functional candidate gene for meat quality that helps to constitute …
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. More TA, et al. Mol Genet Genomics. 2023 Mar;298(2):427-439. doi: 10.1007/s00438-022-01984-1. Epub 2023 Jan 4. Mol Genet Genomics. 2023. PMID: 36598564
Hereditary Spherocytosis (HS) is a common cause of hemolytic anemia varying from mild to severe hemolysis due to defects in red cell membrane protein genes, namely ANK1, SPTB, SPTA1, SLC4A1, and EPB42. These genes are considerably very large spaning 40-50 exo …
Hereditary Spherocytosis (HS) is a common cause of hemolytic anemia varying from mild to severe hemolysis due to defects in red cell membran …
[Analysis of ANK1 gene mutation in a family with hereditary spherocytosis type ].
Li D, Li B, Li S, Li W, Wang Y, Guo X. Li D, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Oct 10;36(10):999-1001. doi: 10.3760/cma.j.issn.1003-9406.2019.10.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31598945 Chinese.
RESULTS: The proband was found to harbor a novel frameshifting mutation in the coding region of ANK1 gene, which has resulted in abnormal structure or function of the protein. ...CONCLUSION: The c.247delG mutation of proband hereditary spherocytosis typein this fami …
RESULTS: The proband was found to harbor a novel frameshifting mutation in the coding region of ANK1 gene, which has resulted …
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. Wang Y, et al. BMC Pediatr. 2023 Jan 16;23(1):23. doi: 10.1186/s12887-022-03795-0. BMC Pediatr. 2023. PMID: 36647015 Free PMC article.
RESULTS: The c.1305 + 2 T > A (family1) and c.1305 + 2del (family2) variants were detected in the ANK1 gene. These two de novo mutations described by us which have not been reported prior to this study. ...The minigene plasmid expressing c.1305 + 2del transcribed …
RESULTS: The c.1305 + 2 T > A (family1) and c.1305 + 2del (family2) variants were detected in the ANK1 gene. These two de n …
Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of the ANK1 gene and phenotypic analysis.
Kang M, Li H, Zhu J, Zhu L, Hong Y, Fang Y. Kang M, et al. Front Genet. 2023 Feb 1;14:1088985. doi: 10.3389/fgene.2023.1088985. eCollection 2023. Front Genet. 2023. PMID: 36816036 Free PMC article.
Background: Hereditary spherocytosis (HS) is an autosomal dominant (AD) and autosomal recessive (AR) disorder that is mostly caused by mutations of the erythrocyte membrane-related gene ANK1. Methods: Clinical and genetic testing data of 17 HS children with ANK1 …
Background: Hereditary spherocytosis (HS) is an autosomal dominant (AD) and autosomal recessive (AR) disorder that is mostly caused by mutat …
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. Hao L, et al. J Cell Mol Med. 2019 Jun;23(6):4454-4463. doi: 10.1111/jcmm.14343. Epub 2019 Apr 23. J Cell Mol Med. 2019. PMID: 31016877 Free PMC article.
Two novel heterozygous mutations (c.C841T, p.R281X and c.T290G, p.L97R) of the ANK1 gene were identified in the two families respectively. Then, the pathogenicity of the two new mutations and two previously reported ANK1 mutations (c.C648G, p.Y216X and c.G424 …
Two novel heterozygous mutations (c.C841T, p.R281X and c.T290G, p.L97R) of the ANK1 gene were identified in the two families r …
269 results