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Year Number of Results
2017 4
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2019 5
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Page 1
Identification of novel therapeutic targets for chronic kidney disease and kidney function by integrating multi-omics proteome with transcriptome.
Si S, Liu H, Xu L, Zhan S. Si S, et al. Genome Med. 2024 Jun 19;16(1):84. doi: 10.1186/s13073-024-01356-x. Genome Med. 2024. PMID: 38898508 Free PMC article.
Five novel proteins, namely, GCKR (OR 1.17, 95% CI 1.10-1.24), IGFBP-5 (OR 0.43, 95% CI 0.29-0.62), sRAGE (OR 1.14, 95% CI 1.07-1.22), GNPTG (OR 0.90, 95% CI 0.86-0.95), and YOD1 (OR 1.39, 95% CI 1.18-1.64,) passed the MR, SMR, and colocalization analysis. ...
Five novel proteins, namely, GCKR (OR 1.17, 95% CI 1.10-1.24), IGFBP-5 (OR 0.43, 95% CI 0.29-0.62), sRAGE (OR 1.14, 95% CI 1.07-1.22), GN …
Identifying novel drug targets for calcific aortic valve disease through Mendelian randomization.
Xu D, Lu J, Yang Y, Hu W, Chen J, Xue J, Yang S, Cao N, Hu H, Qian N, Zhou D, Dai H, Wang J, Liu X. Xu D, et al. Atherosclerosis. 2025 Mar;402:119110. doi: 10.1016/j.atherosclerosis.2025.119110. Epub 2025 Jan 28. Atherosclerosis. 2025. PMID: 39922081 Free article.
RESULTS: Six proteins (ANGPTL4, PCSK9, ITGAV, CTSB, GNPTG, and FURIN) with strong genetic colocalization were identified by MR and SMR analysis. ...
RESULTS: Six proteins (ANGPTL4, PCSK9, ITGAV, CTSB, GNPTG, and FURIN) with strong genetic colocalization were identified by MR and SM …
Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers.
Kazemi N, Estiar MA, Fazilaty H, Sakhinia E. Kazemi N, et al. Gene. 2018 Mar 20;647:93-100. doi: 10.1016/j.gene.2017.12.054. Epub 2017 Dec 28. Gene. 2018. PMID: 29289611
Previously, mutations with more severe effects on GNPTAB and GNPTG have been reported to cause Mucolipidosisll (ML-ll) and Mucolipidosislll (ML-lll), two lysosomal storage disorders with multiple pathologies. ...We also compared our findings with those related to Mucolipid …
Previously, mutations with more severe effects on GNPTAB and GNPTG have been reported to cause Mucolipidosisll (ML-ll) and Mucolipido …
Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.
Erdem F, Canda E, Yazıcı H, Eser R, Yoldaş Çelik M, Keşan S, Saka Güvenç M, Atik T, Tamsel İ, Onay H, Kalkan Uçar S, Sözmen EY, Çoker M. Erdem F, et al. J Pediatr Endocrinol Metab. 2025 Oct 10;38(12):1286-1298. doi: 10.1515/jpem-2025-0352. Print 2025 Dec 17. J Pediatr Endocrinol Metab. 2025. PMID: 41064848 Free article.
The most common mutation in GNPTAB was c.3503_3504delTC in ML II alpha/beta, while GNPTG variants were linked to ML III gamma. Radiologic findings often included hip dysplasia; brain MRIs showed callosal and subarachnoid abnormalities in a few cases. ...CONCLUSIONS: In add …
The most common mutation in GNPTAB was c.3503_3504delTC in ML II alpha/beta, while GNPTG variants were linked to ML III gamma. Radiol …
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Velho RV, Harms FL, Danyukova T, Ludwig NF, Friez MJ, Cathey SS, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee KL, Brammeier KL, Heptinstall L, Oussoren E, van der Ploeg AT, Petersen C, Alves S, Saavedra GD, Schwartz IV, Muschol N, Kutsche K, Pohl S. Velho RV, et al. Hum Mutat. 2019 Jul;40(7):842-864. doi: 10.1002/humu.23748. Epub 2019 Apr 13. Hum Mutat. 2019. PMID: 30882951
Mutations in the GNPTAB and GNPTG genes cause mucolipidosis (ML) type II, type III alpha/beta, and type III gamma, which are autosomal recessively inherited lysosomal storage disorders. ...Since the identification of the GNPTAB and GNPTG genes, 564 individuals affec …
Mutations in the GNPTAB and GNPTG genes cause mucolipidosis (ML) type II, type III alpha/beta, and type III gamma, which are autosoma …
Dilated cardiomyopathy in mucolipidosis type 2.
Carboni E, Sestito S, Lucente M, Morrone A, Zampini L, Chimenz R, Ceravolo MD, De Sarro R, Ceravolo G, Calabrò MP, Parisi F, Moricca MT, Pensabene L, Musolino D, Concolino D. Carboni E, et al. J Biol Regul Homeost Agents. 2020 Jul-Aug;34(4 Suppl. 2):71-77. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. J Biol Regul Homeost Agents. 2020. PMID: 33000604
Mucolipidosis II and III are lysosomal storage diseases caused by pathogenetic mutations in GNPTAB and GNPTG genes which cause an impaired activity of the lysosomal hydrolase N-acetylglucosamine- 1-phosphotransferase, a key enzyme in the synthesis of the mannose-6-phosphat …
Mucolipidosis II and III are lysosomal storage diseases caused by pathogenetic mutations in GNPTAB and GNPTG genes which cause an imp …
Neurofilament-lysosomal genetic intersections in the cortical network of stuttering.
Benito-Aragón C, Gonzalez-Sarmiento R, Liddell T, Diez I, d'Oleire Uquillas F, Ortiz-Terán L, Bueichekú E, Chow HM, Chang SE, Sepulcre J. Benito-Aragón C, et al. Prog Neurobiol. 2020 Jan;184:101718. doi: 10.1016/j.pneurobio.2019.101718. Epub 2019 Oct 24. Prog Neurobiol. 2020. PMID: 31669185 Free PMC article.
We performed a spatial similarity analysis that examines whether the topology of the stuttering cortical network intersects with genetic expression levels of previously reported genes for stuttering from the protein-coding transcriptome data of the Allen Human Brain Atlas. We fou …
We performed a spatial similarity analysis that examines whether the topology of the stuttering cortical network intersects with genetic exp …
Mucolipidosis type II and type III: a systematic review of 843 published cases.
Dogterom EJ, Wagenmakers MAEM, Wilke M, Demirdas S, Muschol NM, Pohl S, Meijden JCV, Rizopoulos D, Ploeg ATV, Oussoren E. Dogterom EJ, et al. Genet Med. 2021 Nov;23(11):2047-2056. doi: 10.1038/s41436-021-01244-4. Epub 2021 Jun 25. Genet Med. 2021. PMID: 34172897 Free article.
Pathogenic variants were described in 388 patients (GNPTAB: 571, GNPTG 179). CONCLUSION: This review provides unique insights into the natural history of MLII and MLIII, with a clear genotype-phenotype correlation with the most frequent pathogenic variant c.3503_3504del in …
Pathogenic variants were described in 388 patients (GNPTAB: 571, GNPTG 179). CONCLUSION: This review provides unique insights into th …
Genetic factors and therapy outcomes in persistent developmental stuttering.
Frigerio-Domingues CE, Gkalitsiou Z, Zezinka A, Sainz E, Gutierrez J, Byrd C, Webster R, Drayna D. Frigerio-Domingues CE, et al. J Commun Disord. 2019 Jul-Aug;80:11-17. doi: 10.1016/j.jcomdis.2019.03.007. Epub 2019 Apr 5. J Commun Disord. 2019. PMID: 31003007
We evaluated a cohort of 51 stuttering individuals with who carried a mutation in either the GNPTAB, GNPTG, NAGPA, or AP4E1 gene. We compared therapy outcomes in these individuals with outcomes in 51 individuals matched for age, gender, and ethnicity, who stutter and under …
We evaluated a cohort of 51 stuttering individuals with who carried a mutation in either the GNPTAB, GNPTG, NAGPA, or AP4E1 gene. We …
Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity.
Doğan M, Eröz R, Terali K, Gezdirici A, Bolu S. Doğan M, et al. Mol Biol Rep. 2021 Feb;48(2):1465-1474. doi: 10.1007/s11033-021-06158-7. Epub 2021 Jan 28. Mol Biol Rep. 2021. PMID: 33507475
It is caused by pathogenic variants in the GNPTG gene that provides instructions for producing the gamma subunit of GlcNAc-1-phosphotransferase. ...Our findings help broaden the spectrum of GNPTG variants causing ML III gamma and offer structural and mechanistic ins …
It is caused by pathogenic variants in the GNPTG gene that provides instructions for producing the gamma subunit of GlcNAc-1-phosphot …
25 results