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

Year Number of Results
2016 4
2017 5
2018 13
2019 7
2020 2
2021 7
2022 4
2023 1
2024 3
2025 3
2026 2

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42 results

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Page 1
Hereditary ataxias and paraparesias: clinical and genetic update.
Parodi L, Coarelli G, Stevanin G, Brice A, Durr A. Parodi L, et al. Curr Opin Neurol. 2018 Aug;31(4):462-471. doi: 10.1097/WCO.0000000000000585. Curr Opin Neurol. 2018. PMID: 29847346 Review.
Clear examples are the expanded phenotypes associated with mutations in SPG7, PNPLA6, GBA2, KIF1C, CYP7B1, FA2H, ATP13A2 and many others. Moreover, other genes not previously linked to HCAs and HSPs have been implicated in spastic or ataxic phenotypes. ...
Clear examples are the expanded phenotypes associated with mutations in SPG7, PNPLA6, GBA2, KIF1C, CYP7B1, FA2H, ATP13A2 and many oth …
Generation of novel lipid metabolism-based signatures to predict prognosis and immunotherapy response for colorectal adenocarcinoma.
Wang Y, Yao J, Zhang Z, Wei L, Wang S. Wang Y, et al. Sci Rep. 2024 Jul 26;14(1):17158. doi: 10.1038/s41598-024-67549-x. Sci Rep. 2024. PMID: 39060344 Free PMC article.
Next, 12 hub genes (PIK3CG, ALOX5AP, PIK3R5, TNFAIP8L2, DPEP2, PIK3CD, PIK3R6, GGT5, ELOVL4, PTGIS, CYP7B1 and PRKD1) were found within green and yellow modules correlated with EMT, stemness and ICs. ...
Next, 12 hub genes (PIK3CG, ALOX5AP, PIK3R5, TNFAIP8L2, DPEP2, PIK3CD, PIK3R6, GGT5, ELOVL4, PTGIS, CYP7B1 and PRKD1) were found with …
Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.
Perić S, Marković V, Candayan A, De Vriendt E, Momčilović N, Savić A, Dragašević-Mišković N, Svetel M, Stević Z, Božović I, Mesaroš Š, Drulović J, Basta I, Petrović I, Tamaš O, Mijajlović M, Novaković I, Sokić D, Jordanova A. Perić S, et al. Cells. 2022 Sep 8;11(18):2804. doi: 10.3390/cells11182804. Cells. 2022. PMID: 36139378 Free PMC article.
A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7 (SPG7), KIF5A (SPG10), SPG11 (SPG11), ZYFVE26 (SPG15), REEP1 (SPG31), ATP13A2 (SPG78), DYNC1H1, and BICD2 using a next generation sequencing-based technique. …
A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7 (SPG7), KIF5A (SP …
The Genetic Landscape of Hereditary Spastic Paraplegia in Greece.
Koutsis G, Chelban V, Kartanou C, Kontogeorgiou Z, Koniari C, Ragazos N, Voudommatis C, Zhelcheska K, Lynch DS, Maroofian R, Barkhordari E, Mohammad R, Zaganas I, Drakos M, Xiromerisiou G, Dardiotis E, Stefanis L, Panas M, Houlden H, Karadima G. Koutsis G, et al. Clin Genet. 2026 May;109(5):837-846. doi: 10.1111/cge.70113. Epub 2025 Nov 24. Clin Genet. 2026. PMID: 41277402 Free PMC article.
We identified 7 novel causative variants in SPAST, SPG7, and CYP7B1. We found causative variants in a total of 18 different genes. The most commonly involved genes, affecting more than one family, were SPAST (25.0%), SPG11 (12.5%), CYP7B1 (3.6%), SPG7 (3.6%), KIF5A …
We identified 7 novel causative variants in SPAST, SPG7, and CYP7B1. We found causative variants in a total of 18 different genes. Th …
AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.
Chen JY, Wu JF, Kimura A, Nittono H, Liou BY, Lee CS, Chen HS, Chiu YC, Ni YH, Peng SS, Lee WT, Tsai IJ, Chang MH, Chen HL. Chen JY, et al. Pediatr Neonatol. 2020 Feb;61(1):75-83. doi: 10.1016/j.pedneo.2019.06.009. Epub 2019 Jul 4. Pediatr Neonatol. 2020. PMID: 31337596 Free article.
We also tested healthy control subjects for a probable hot spot point mutation of CYP7B1. RESULTS: Among the 75 patients with infantile intrahepatic cholestasis tested during 2000 -2016, three had (4)-3-oxosteroid 5beta-reductase deficiency with AKR1D1 mutations, and thre …
We also tested healthy control subjects for a probable hot spot point mutation of CYP7B1. RESULTS: Among the 75 patients with infanti …
HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies.
Sager G, Turkyilmaz A, Ates EA, Kutlubay B. Sager G, et al. Acta Neurol Belg. 2022 Apr;122(2):391-399. doi: 10.1007/s13760-021-01649-7. Epub 2021 Apr 3. Acta Neurol Belg. 2022. PMID: 33813722
Five typical HSP genes (FA2H, AP4M1, AP4E1, CYP7B1, and MAG) and three genes not previously related to HSP (HACE1, GLRX5, ad ELP2) were identified in 14 probands. ...
Five typical HSP genes (FA2H, AP4M1, AP4E1, CYP7B1, and MAG) and three genes not previously related to HSP (HACE1, GLRX5, ad ELP2) we …
Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese.
Dong Y, Li XY, Wang XL, Xu F, Wang ZJ, Song Y, Li Q, Lin R, Wang C. Dong Y, et al. Neurosci Lett. 2021 Sep 14;761:136108. doi: 10.1016/j.neulet.2021.136108. Epub 2021 Jul 10. Neurosci Lett. 2021. PMID: 34256108
We identified 12 mutations in five genes in 9 (50%) patients, including 9 novel ones: SPG5A/CYP7B1 (c.851C > A; c.122 + 2 T > G), SPG11/KIAA1840 (c.1735 + 3_ 1735 + 6del AAGT); SPG7/SPG7 (c.1454G > A; c.1892_ 1906dup GAGGACGGGCCTCGG); SPG39/PNPLA6 (c.1591G > A; …
We identified 12 mutations in five genes in 9 (50%) patients, including 9 novel ones: SPG5A/CYP7B1 (c.851C > A; c.122 + 2 T > G …
Dexamethasone regulates gene expression in chondrocytes through MKP-1 and downregulates cholesterol hydroxylases CH25H and CYP7B1.
Lehtola T, Pemmari A, Nummenmaa E, Valjus I, Hämäläinen M, Moilanen T, Vuolteenaho K, Moilanen E. Lehtola T, et al. Inflamm Res. 2025 Nov 26;74(1):176. doi: 10.1007/s00011-025-02121-5. Inflamm Res. 2025. PMID: 41296055 Free PMC article.
RESULTS: Under these conditions, dexamethasone was found to significantly alter the expression of seven out of the 15 OA-related genes including two cholesterol hydroxylases, namely cholesterol 25-hydroxylase (CH25H) and 25-hydroxycholesterol 7-hydroxylase (also known as cytochro …
RESULTS: Under these conditions, dexamethasone was found to significantly alter the expression of seven out of the 15 OA-related genes inclu …
Biomarkers related to m6A and succinic acid metabolism in papillary thyroid carcinoma.
Li M, Fu X, Zhou T, Han H. Li M, et al. BMC Med Genomics. 2024 Aug 7;17(1):199. doi: 10.1186/s12920-024-01975-8. BMC Med Genomics. 2024. PMID: 39113023 Free PMC article.
In PTC samples, ADK and TNFRSF10B were high-expressed while CYP7B1, FGFR2, and CPQ were low-expressed. Especially, the high-expression groups of ADK had a better prognosis, while the high-expression groups of CYP7B1, FGFR2, and CPQ had a worse prognosis. ...Finally, …
In PTC samples, ADK and TNFRSF10B were high-expressed while CYP7B1, FGFR2, and CPQ were low-expressed. Especially, the high-expressio …
Charting the genetic landscape of autosomal recessive hereditary spastic paraplegia: A deep dive into 10 exceptionally rare cases.
Yigit ZM, Dikbas OS, Tosun A, Ayanoglu M, Kiylioglu N, Sair A, Akyildiz UO, Kutlu G, Bozkurt G. Yigit ZM, et al. Neurogenetics. 2025 Aug 9;26(1):58. doi: 10.1007/s10048-025-00841-8. Neurogenetics. 2025. PMID: 40782215
In this study, we investigated 10 patients diagnosed with AR HSPs and identified pathogenic variants in SPART, FA2H, AP4B1, SPG7, SPG11, CYP2U1, and CYP7B1, with three cases harboring novel variants. Clinical presentations ranged from pure spastic paraplegia to complex phe …
In this study, we investigated 10 patients diagnosed with AR HSPs and identified pathogenic variants in SPART, FA2H, AP4B1, SPG7, SPG11, CYP …
42 results