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2003 2
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63 results

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Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.
Altassan R, Allers MM, De Graef D, Shah R, de Vries M, Larson A, Glamuzina E, Morava E. Altassan R, et al. Mol Genet Metab. 2023 Nov;140(3):107688. doi: 10.1016/j.ymgme.2023.107688. Epub 2023 Aug 23. Mol Genet Metab. 2023. PMID: 37647829 Review.
Biallelic pathogenic variants in PGAP3 cause a rare glycosylphosphatidyl-inositol biogenesis disorder, PGAP3-CDG. ...Here, we summarized the phenotype of sixty-five individuals including six unreported individuals from our CDG natural history study with a confirmed …
Biallelic pathogenic variants in PGAP3 cause a rare glycosylphosphatidyl-inositol biogenesis disorder, PGAP3-CDG. ...Here, we …
High PGAP3 expression is associated with lymph node metastasis and low CD8(+)T cell in patients with HER2(+) breast cancer.
Hao N, Li M, Wang J, Song Y, Zhao Y, Zhang L, Yang X, Chen L, Ma J, Jia Q, Sui F. Hao N, et al. Pathol Res Pract. 2023 Nov;251:154890. doi: 10.1016/j.prp.2023.154890. Epub 2023 Oct 13. Pathol Res Pract. 2023. PMID: 37839361
Immunohistochemistry was employed to assess PGAP3 expression, immune markers, and the co-expression of PGAP3 with key susceptibility genes. ...CONCLUSION: Our study sheds light on the clinical significance of PGAP3 in breast cancer. PGAP3 is not only o …
Immunohistochemistry was employed to assess PGAP3 expression, immune markers, and the co-expression of PGAP3 with key suscepti …
Contribution of PGAP3 co-amplified and co-overexpressed with ERBB2 at 17q12 involved poor prognosis in gastric cancer.
Wang D, Hao S, He H, Zhang J, You G, Wu X, Zhang R, Meng X, Cui X, Bai J, Fu S, Yu J. Wang D, et al. J Cell Mol Med. 2023 Aug;27(16):2424-2436. doi: 10.1111/jcmm.17828. Epub 2023 Jun 29. J Cell Mol Med. 2023. PMID: 37386793 Free PMC article.
PGAP3 and ERBB2 were overexpressed and positively correlated in 418 GC patients. ...Furthermore, combined silencing of PGAP3 and ERBB2 showed an additive effect on resisting proliferation of NCI-N87 cells compared with targeting ERBB2 or PGAP3 alone. ...
PGAP3 and ERBB2 were overexpressed and positively correlated in 418 GC patients. ...Furthermore, combined silencing of PGAP3 a …
PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development.
Da'as SI, Aamer W, Hasan W, Al-Maraghi A, Al-Kurbi A, Kilani H, AlRayahi J, Zamel K, Stotland MA, Fakhro KA. Da'as SI, et al. Cells. 2020 Jul 27;9(8):1782. doi: 10.3390/cells9081782. Cells. 2020. PMID: 32726939 Free PMC article.
Recessive mutations in Post-GPI attachment to proteins 3 (PGAP3) cause the rare neurological disorder hyperphosphatasia with mental retardation syndrome 4 type (HPMRS4). Here, we report a novel homozygous nonsense mutation in PGAP3 (c.265C>T-p.Gln89*), in a 3-yea …
Recessive mutations in Post-GPI attachment to proteins 3 (PGAP3) cause the rare neurological disorder hyperphosphatasia with mental r …
The novel circular RNA circ-PGAP3 retards cervical cancer growth by regulating the miR-769-5p/p53 axis.
Jun T, Chen W, Hailing C, Ning W, Qinxue C. Jun T, et al. Hum Cell. 2021 May;34(3):878-888. doi: 10.1007/s13577-021-00493-4. Epub 2021 Feb 16. Hum Cell. 2021. PMID: 33591461
Low circ-PGAP3 was closely linked to poor prognosis. And overexpression of circ-PGAP3 significantly reduced CC cell proliferation in vitro and tumor growth in vivo. ...Importantly, the regulatory feedback loop of circ-PGAP3/p53 was also confirmed in vivo. Ove …
Low circ-PGAP3 was closely linked to poor prognosis. And overexpression of circ-PGAP3 significantly reduced CC cell proliferat …
Expanding the phenome and variome of skeletal dysplasia.
Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS. Maddirevula S, et al. Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5. Genet Med. 2018. PMID: 29620724 Free article.
We also describe novel phenotypic aspects of well-known disease genes, e.g., PGAP3-related Toriello-Carey syndrome-like phenotype. We note a strong founder effect for many genes in our cohort, which allowed us to calculate a minimum disease burden for the autosomal recessi …
We also describe novel phenotypic aspects of well-known disease genes, e.g., PGAP3-related Toriello-Carey syndrome-like phenotype. We …
A Novel PGAP3 Gene Mutation-Related Megalocornea Can Be Misdiagnosed as Primary Congenital Glaucoma.
Alhaidari AI, Albakri AS, Alhumaidi SS. Alhaidari AI, et al. Cureus. 2022 Sep 21;14(9):e29387. doi: 10.7759/cureus.29387. eCollection 2022 Sep. Cureus. 2022. PMID: 36304370 Free PMC article.
Mutation in post-GPI attachment to protein phospholipase 3 gene (PGAP3) is linked to HPMRS4. Patients usually present with dysmorphic features, developmental delay, central hypotonia, and seizure. However, in our case, we report a novel homozygous missense mutation of P …
Mutation in post-GPI attachment to protein phospholipase 3 gene (PGAP3) is linked to HPMRS4. Patients usually present with dysmorphic …
PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.
Abdel-Hamid MS, Issa MY, Otaify GA, Abdel-Ghafar SF, Elbendary HM, Zaki MS. Abdel-Hamid MS, et al. Clin Genet. 2018 Jan;93(1):84-91. doi: 10.1111/cge.13033. Epub 2017 Aug 4. Clin Genet. 2018. PMID: 28390064
Sanger sequencing of PGAP3 was performed. RESULTS: Eight patients had cleft palate, 4 had postnatal microcephaly and 5 had seizures. ...Our results reinforce the distinct clinical and facial features of PGAP3-related HPMRS which are the clue for targeted genetic tes …
Sanger sequencing of PGAP3 was performed. RESULTS: Eight patients had cleft palate, 4 had postnatal microcephaly and 5 had seizures. …
A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.
Sakaguchi T, Žigman T, Petković Ramadža D, Omerza L, Pušeljić S, Ereš Hrvaćanin Z, Miyake N, Matsumoto N, Barić I. Sakaguchi T, et al. Hum Genome Var. 2018 Mar 8;5:18005. doi: 10.1038/hgv.2018.5. eCollection 2018. Hum Genome Var. 2018. PMID: 29531774 Free PMC article.
Biallelic mutations in the post-GPI attachment to proteins 3 (PGAP3) gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmor …
Biallelic mutations in the post-GPI attachment to proteins 3 (PGAP3) gene cause hyperphosphatasia with mental retardation syndrome 4 …
The Novel Circular RNA Circ-PGAP3 Promotes the Proliferation and Invasion of Triple Negative Breast Cancer by Regulating the miR-330-3p/Myc Axis.
He D, Yang X, Kuang W, Huang G, Liu X, Zhang Y. He D, et al. Onco Targets Ther. 2020 Oct 9;13:10149-10159. doi: 10.2147/OTT.S274574. eCollection 2020. Onco Targets Ther. 2020. PMID: 33116597 Free PMC article.
RIP, RNA pull-down and luciferase reporter assays were used to test the correlation between circ-PGAP3, miR-330-3p and Myc. The animal model was employed to verify the function of circ-PGAP3 in vivo. RESULTS: Circ-PGAP3 expression was significantly increased …
RIP, RNA pull-down and luciferase reporter assays were used to test the correlation between circ-PGAP3, miR-330-3p and Myc. The anima …
63 results