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2021 3
2022 5
2023 2
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Page 1
The impact of ALDH7A1 variants in oral cancer development and prognosis.
Lu HJ, Chuang CY, Chen MK, Su CW, Yang WE, Yeh CM, Lai KM, Tang CH, Lin CW, Yang SF. Lu HJ, et al. Aging (Albany NY). 2022 May 25;14(10):4556-4571. doi: 10.18632/aging.204099. Epub 2022 May 25. Aging (Albany NY). 2022. PMID: 35613852 Free PMC article.
When the patients were classified into ALDH7A1-high and -low-expression groups, the high-ALDH7A1 group had superior outcomes in progression-free survival than the low-ALDH7A1 group (5-year survival of 58.7% vs. 48.0%, P = 0.048) did. In conclusion, patients w …
When the patients were classified into ALDH7A1-high and -low-expression groups, the high-ALDH7A1 group had superior outcomes i …
Transcriptome and genome sequencing investigating the molecular characteristics of patients with varicocele infertility.
Zhang C, Li X, Chen J, Zhao L, Wei X, Dong Y, Sicheng M, Sun Z. Zhang C, et al. Andrologia. 2022 Nov;54(10):e14542. doi: 10.1111/and.14542. Epub 2022 Aug 3. Andrologia. 2022. PMID: 35922383
The genomic results identified patients with mutations in CFTR, NANOS1, SRCAP, GATA4, GCM2, TUBB1, ALDH7A1, ANTXR1, and MAP3K1. In conclusion, our results indicated that Alcohol consumption may be a cause of varicoceles. ...
The genomic results identified patients with mutations in CFTR, NANOS1, SRCAP, GATA4, GCM2, TUBB1, ALDH7A1, ANTXR1, and MAP3K1. In co …
Prenatal genetic testing in 19 fetuses with corpus callosum abnormality.
She Q, Tang E, Peng C, Wang L, Wang D, Tan W. She Q, et al. J Clin Lab Anal. 2021 Nov;35(11):e23971. doi: 10.1002/jcla.23971. Epub 2021 Sep 27. J Clin Lab Anal. 2021. PMID: 34569664 Free PMC article.
WES revealed that 2 of 5 cases with negative results of karyotyping and CNV-seq or CMA carried pathogenic genes ALDH7A1 and ARID1B. CONCLUSION: Parallel genetic tests showed that CNV-seq and CMA are able to identify additional, clinically significant cytogenetic informatio …
WES revealed that 2 of 5 cases with negative results of karyotyping and CNV-seq or CMA carried pathogenic genes ALDH7A1 and ARID1B. C …
Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures.
Yang H, Yang X, Cai F, Gan S, Yang S, Wu L. Yang H, et al. Sci Rep. 2022 Jun 17;12(1):10187. doi: 10.1038/s41598-022-13974-9. Sci Rep. 2022. PMID: 35715422 Free PMC article.
In order to explore new genetic etiology of EIMFS and new precision medicine treatment strategies, 36 children with EIMFS were enrolled in this study. 17/36 cases had causative variants across 11 genes, including 6 novel EIMFS genes: PCDH19, ALDH7A1, DOCK6, PRRT2, ALG1 and …
In order to explore new genetic etiology of EIMFS and new precision medicine treatment strategies, 36 children with EIMFS were enrolled in t …
A glycolysis-based three-gene signature predicts survival in patients with lung squamous cell carcinoma.
Huang G, Zhang J, Gong L, Huang Y, Liu D. Huang G, et al. BMC Cancer. 2021 May 27;21(1):626. doi: 10.1186/s12885-021-08360-z. BMC Cancer. 2021. PMID: 34044809 Free PMC article.
Based on a Cox proportional regression model, a risk score for a three-gene signature (HKDC1, ALDH7A1, and MDH1) was established to divide patients into high-risk and low-risk subgroups. ...Additionally, based on the cBioPortal database, the rate of genomic alterations in …
Based on a Cox proportional regression model, a risk score for a three-gene signature (HKDC1, ALDH7A1, and MDH1) was established to d …
Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene.
İpek R, Çavdartepe BE, Kor D, Okuyaz Ç. İpek R, et al. Metab Brain Dis. 2022 Dec;37(8):3027-3032. doi: 10.1007/s11011-022-01085-3. Epub 2022 Oct 29. Metab Brain Dis. 2022. PMID: 36308585
Pyridoxine-dependent epilepsy (PDE) is a treatable disorder associated with defects in the one of ALDH7A1, PNPO, or PLPBP genes and it is uncommon but progresses with persistent seizures in the neonatal and infancy period. ...
Pyridoxine-dependent epilepsy (PDE) is a treatable disorder associated with defects in the one of ALDH7A1, PNPO, or PLPBP genes and i …
Identification of a glycolysis-related gene signature associated with clinical outcome for patients with lung squamous cell carcinoma.
Xu Z, Zhang S, Nian F, Xu S. Xu Z, et al. Cancer Med. 2021 Jun;10(12):4017-4029. doi: 10.1002/cam4.3945. Epub 2021 May 15. Cancer Med. 2021. PMID: 33991070 Free PMC article.
RESULTS: We developed five glycolysis-related genes signature (HKDC1, AGL, ALDH7A1, SLC16A3, and MIOX) to calculate each patient's risk score. ...
RESULTS: We developed five glycolysis-related genes signature (HKDC1, AGL, ALDH7A1, SLC16A3, and MIOX) to calculate each patient's ri …
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study.
Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, Myren-Svelstad S, Berland S, Sejersted Y, Gerstner T, Hassel B, Bindoff LA, Brodtkorb E. Jamali A, et al. Epilepsy Res. 2023 Feb;190:107099. doi: 10.1016/j.eplepsyres.2023.107099. Epub 2023 Jan 27. Epilepsy Res. 2023. PMID: 36731270
Medical records were collected and reviewed. RESULTS: We identified 15 patients treated for PDE; 13 had ALDH7A1 variants (PDE-ALDH7A1), one had PNPO deficiency, and in one, aetiology remained obscure. Of those with PDE-ALDH7A1, 12 were alive at time of study; …
Medical records were collected and reviewed. RESULTS: We identified 15 patients treated for PDE; 13 had ALDH7A1 variants (PDE-ALDH …
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.
Boonsimma P, Ittiwut C, Kamolvisit W, Ittiwut R, Chetruengchai W, Phokaew C, Srichonthong C, Poonmaksatit S, Desudchit T, Suphapeetiporn K, Shotelersuk V. Boonsimma P, et al. Eur J Hum Genet. 2023 Feb;31(2):179-187. doi: 10.1038/s41431-022-01202-x. Epub 2022 Oct 5. Eur J Hum Genet. 2023. PMID: 36198807
Two partially solved cases (2%; 2/103) with heterozygous variants identified in ALDH7A1 known to cause autosomal recessive pyridoxine dependent epilepsy underwent genome sequencing (GS). Two novel large deletions in ALDH7A1 were detected in both cases. ES identified …
Two partially solved cases (2%; 2/103) with heterozygous variants identified in ALDH7A1 known to cause autosomal recessive pyridoxine …