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Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child.
Gurlek Gokcebay D, Akpinar Tekgunduz S, Cavdarli B. Gurlek Gokcebay D, et al. Eur J Med Genet. 2020 Jun;63(6):103880. doi: 10.1016/j.ejmg.2020.103880. Epub 2020 Feb 8. Eur J Med Genet. 2020. PMID: 32045704
Because of her family history of vitamin B12 deficiency and proteinuria, the performed genetic analysis revealed that an Imerslund-Grasbeck Syndrome with the detection of a homozygous mutation in AMN gene....
Because of her family history of vitamin B12 deficiency and proteinuria, the performed genetic analysis revealed that an Imerslund-Grasbeck …
The genetic profile and molecular subtypes of human pseudomyxoma peritonei and appendiceal mucinous neoplasms: a systematic review.
Murage NW, Ahmed NM, Underwood TJ, Walters ZS, Breininger SP. Murage NW, et al. Cancer Metastasis Rev. 2023 Mar;42(1):335-359. doi: 10.1007/s10555-023-10088-0. Epub 2023 Feb 1. Cancer Metastasis Rev. 2023. PMID: 36723696 Free PMC article. Review.
PMP is most commonly caused by appendiceal mucinous neoplasms (AMN), and understanding their genetic biology and pathogenicity may allow for the development of better novel systemic treatments to target key deleterious mutations and the implicated pathways. The primary aim …
PMP is most commonly caused by appendiceal mucinous neoplasms (AMN), and understanding their genetic biology and pathogenicity may al …
Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies.
Ma CY, Li C, Zhou X, Zhang Z, Jiang H, Liu H, Chen HJ, Tse HF, Liao C, Lian Q. Ma CY, et al. Biomed Pharmacother. 2021 Nov;143:112214. doi: 10.1016/j.biopha.2021.112214. Epub 2021 Sep 21. Biomed Pharmacother. 2021. PMID: 34560537 Free article. Review.
Along with other factors such as epigenetic and environmental involvement, ABCD1 mutation-provoked disorders can present different phenotypes including cerebral adrenoleukodystrophy (cALD), adrenomyeloneuropathy (AMN), and peripheral neuropathy. cALD is the most severe for …
Along with other factors such as epigenetic and environmental involvement, ABCD1 mutation-provoked disorders can present different phenotype …
Vitamin B12 Transport Genes and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile.
Suazo J, Salamanca C, Cáceres-Rojas G, González-Hormazábal P, Pantoja R, Leiva N, Pardo R. Suazo J, et al. Reprod Sci. 2022 Oct;29(10):2921-2926. doi: 10.1007/s43032-022-00957-4. Epub 2022 Apr 26. Reprod Sci. 2022. PMID: 35471549
From 247 cases and 453 controls, we obtained variant genotypes for CBLIF, CUBN, AMN, ABCC1, CD320, and TCN2 from a single nucleotide polymorphisms array. Global DNA methylation in 95 controls was obtained through LINE-1 methylation. ...
From 247 cases and 453 controls, we obtained variant genotypes for CBLIF, CUBN, AMN, ABCC1, CD320, and TCN2 from a single nucleotide …
Cognitive Functions in Adult-Onset Phenotypes of X-Linked Adrenoleukodystrophy.
Schäfer L, Roicke H, Fischer M, Sühnel A, Köhler W. Schäfer L, et al. Ann Neurol. 2021 Aug;90(2):266-273. doi: 10.1002/ana.26141. Epub 2021 Jun 26. Ann Neurol. 2021. PMID: 34105176
METHODS: Cognitive function in various domains (intelligence, attention, memory, executive function, and processing speed) was assessed in 172 adults (117 with AMN, 30 with arrested ACALD, and 25 with acute ACALD) using comprehensive neuropsychological batteries. ...Specif …
METHODS: Cognitive function in various domains (intelligence, attention, memory, executive function, and processing speed) was assessed in 1 …
Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort.
Mao C, Li J, Huang X, Wang J, Chu S, Zhang Y, Dong L, Liu C, Lu L, Qiu L, Chen W, Peng B, Cui L, Gao J. Mao C, et al. Neurol Sci. 2022 May;43(5):3255-3263. doi: 10.1007/s10072-021-05859-y. Epub 2022 Jan 8. Neurol Sci. 2022. PMID: 34997422
Unilateral lesions were also possible. Cerebral AMN presented with centrum semiovale diffuse involvement. Spinocerebellar variant was a special subtype of AMN with obvious cerebellar and brainstem lesions. ...A unilateral lesion is also possible. Neuroimaging of cer …
Unilateral lesions were also possible. Cerebral AMN presented with centrum semiovale diffuse involvement. Spinocerebellar variant was …
Clinical course and endocrine dysfunction in X-linked adrenoleukodystrophy: A case series.
Matos T, Costa C, Araújo AN, do Vale S. Matos T, et al. Endocrinol Diabetes Nutr (Engl Ed). 2023 Jun-Jul;70(6):421-428. doi: 10.1016/j.endien.2022.01.010. Endocrinol Diabetes Nutr (Engl Ed). 2023. PMID: 37356877
BACKGROUND AND PURPOSE: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder affecting particularly the nervous tissue and adrenal cortex. Adrenomyeloneuropathy (AMN) is the most frequent phenotype, although adrenal insufficiency is usually the first manifestati …
BACKGROUND AND PURPOSE: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder affecting particularly the nervous tissue and adrena …
Obesity-related biomarkers underlie a shared genetic architecture between childhood body mass index and childhood asthma.
Han X, Zhu Z, Xiao Q, Li J, Hong X, Wang X, Hasegawa K, Camargo CA Jr, Liang L. Han X, et al. Commun Biol. 2022 Oct 17;5(1):1098. doi: 10.1038/s42003-022-04070-9. Commun Biol. 2022. PMID: 36253437 Free PMC article.
Bayesian colocalization analysis identified a shared causal variant rs12436181 that was mapped to gene AMN using gene expression data in lung tissue. Mendelian randomization showed that the odds ratio of childhood asthma for one standard deviation higher of childhood BMI w …
Bayesian colocalization analysis identified a shared causal variant rs12436181 that was mapped to gene AMN using gene expression data …
A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.
Liu J, Wang X, Huang D, Qi Y, Xu L, Shao Y. Liu J, et al. Medicine (Baltimore). 2024 Apr 19;103(16):e37874. doi: 10.1097/MD.0000000000037874. Medicine (Baltimore). 2024. PMID: 38640304 Free PMC article.
The disease demonstrates a spectrum of phenotypes including adrenomyeloneuropathy (AMN). We aimed to identify the genetic basis of disease in a patient presenting with AMN features in order to confirm the diagnosis, expand genetic knowledge of ABCD1 mutations, and e …
The disease demonstrates a spectrum of phenotypes including adrenomyeloneuropathy (AMN). We aimed to identify the genetic basis of di …
Generation and Characterization of Human iPSC-Derived Astrocytes with Potential for Modeling X-Linked Adrenoleukodystrophy Phenotypes.
Kaur N, Singh J. Kaur N, et al. Int J Mol Sci. 2025 Feb 13;26(4):1576. doi: 10.3390/ijms26041576. Int J Mol Sci. 2025. PMID: 40004040 Free PMC article.
Here, we generated induced pluripotent stem cell (iPSC) lines from skin fibroblasts of two each of apparently healthy control, AMN, and cALD patients with non-integrating mRNA-based reprogramming. iPSC lines expanded normally and expressed pluripotency markers Oct4, SOX2, …
Here, we generated induced pluripotent stem cell (iPSC) lines from skin fibroblasts of two each of apparently healthy control, AMN, a …
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