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GNB1 Encephalopathy.
Revah-Politi A, Sands TT, Colombo S, Goldstein DB, Anyane-Yeboa K. Revah-Politi A, et al. 2020 Mar 5 [updated 2021 Apr 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2020 Mar 5 [updated 2021 Apr 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 32134617 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: GNB1 encephalopathy (GNB1-E) is characterized by moderate-to-severe developmental delay / intellectual disability, structural brain abnormalities, and often infantile hypotonia and seizures. Other less common findings include dystonia, redu …
CLINICAL CHARACTERISTICS: GNB1 encephalopathy (GNB1-E) is characterized by moderate-to-severe developmental delay / intellectu …
GNB1 Encephalopathy: Clinical Case Report and Literature Review.
Nasvytis M, Čiauškaitė J, Jurkevičienė G. Nasvytis M, et al. Medicina (Kaunas). 2024 Apr 1;60(4):589. doi: 10.3390/medicina60040589. Medicina (Kaunas). 2024. PMID: 38674235 Free PMC article. Review.
GNB1 encephalopathy is a rare genetic disease caused by pathogenic variants in the G Protein Subunit Beta 1 (GNB1) gene, with only around 68 cases documented worldwide. ...The main theory for GNB1 encephalopathy pathogenesis is neuronal hyperexcitability caus …
GNB1 encephalopathy is a rare genetic disease caused by pathogenic variants in the G Protein Subunit Beta 1 (GNB1) gene, with …
GNB1 promotes hepatocellular carcinoma progression by targeting BAG2 to activate P38/MAPK signaling.
Zhang X, Dong K, Zhang J, Kuang T, Luo Y, Yu J, Yu J, Wang W. Zhang X, et al. Cancer Sci. 2023 May;114(5):2001-2013. doi: 10.1111/cas.15741. Epub 2023 Feb 14. Cancer Sci. 2023. PMID: 36718954 Free PMC article.
In this study, we investigated the effects of GNB1 and its possible mechanism of action in hepatocellular carcinoma (HCC). The clinical significance of GNB1 was evaluated in a large cohort of HCC patients, showing that GNB1 was overexpressed in HCC compared t …
In this study, we investigated the effects of GNB1 and its possible mechanism of action in hepatocellular carcinoma (HCC). The clinic …
GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.
Kleinendorst L, Abawi O, Vos N, van der Valk ES, Maas SM, Morgan AT, Hildebrand MS, Da Silva JD, Florijn RJ, Lauffer P, Visser JA, van Rossum EFC, van den Akker ELT, van Haelst MM. Kleinendorst L, et al. Clin Obes. 2024 Aug;14(4):e12661. doi: 10.1111/cob.12661. Epub 2024 Apr 10. Clin Obes. 2024. PMID: 38596856
Most patients with GNB1 encephalopathy have developmental delay and/or intellectual disability, brain anomalies and seizures. ...We also suggest GNB1 is a candidate gene for the known obesity phenotype of the 1p36 microdeletion syndrome given this chromosomal region …
Most patients with GNB1 encephalopathy have developmental delay and/or intellectual disability, brain anomalies and seizures. ...We a …
GNB1-Related Rod-Cone Dystrophy: A Case Report.
Conti GM, Cancellieri F, Quinodoz M, Kaminska K, Vaclavik V, Rivolta C, Tran HV. Conti GM, et al. Case Rep Ophthalmol. 2024 Mar 18;15(1):230-237. doi: 10.1159/000537997. eCollection 2024 Jan-Dec. Case Rep Ophthalmol. 2024. PMID: 38500542 Free PMC article.
INTRODUCTION: The GNB1 (guanine nucleotide-binding protein, beta1) gene encodes for the ubiquitous beta1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs). GNB1 mutations cause a neurodevelopmental disorder character …
INTRODUCTION: The GNB1 (guanine nucleotide-binding protein, beta1) gene encodes for the ubiquitous beta1 subunit of heterotrimeric G …
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G; C4RCD Research Group; DDD study; Goldstein DB, Anyane-Yeboa K. Hemati P, et al. Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194818 Review.
De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have been reported. ...In the new cohort of 18 patients, 50% of males had genitourinary anomalies and 61% of patients ha …
De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants class …
Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review.
Szczałuba K, Biernacka A, Szymańska K, Gasperowicz P, Kosińska J, Rydzanicz M, Płoski R. Szczałuba K, et al. Eur J Med Genet. 2018 Mar;61(3):157-160. doi: 10.1016/j.ejmg.2017.11.010. Epub 2017 Nov 23. Eur J Med Genet. 2018. PMID: 29174093 Review.
De novo monoallelic mutations in the GNB1 gene, encoding a beta subunit of heterotrimeric G proteins, cause a newly recognized disorder with the typical clinical picture of severe developmental delay/intellectual disability, hypotonia and extrapyramidal symptoms. ...
De novo monoallelic mutations in the GNB1 gene, encoding a beta subunit of heterotrimeric G proteins, cause a newly recognized disord …
Rod-cone dystrophy in an adult with GNB1-related disorder: An expansion of the phenotype and natural history.
Yang XR, Kassam F, Innes AM. Yang XR, et al. Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):183-187. doi: 10.1002/ajmg.c.32045. Epub 2023 May 22. Am J Med Genet C Semin Med Genet. 2023. PMID: 37212526
GNB1-related disorder is characterized by intellectual disability, abnormal tone, and other variable neurologic and systemic features. GNB1 encodes the beta1 subunit of the heterotrimeric G-protein, a complex with a key role in signal transduction. ...
GNB1-related disorder is characterized by intellectual disability, abnormal tone, and other variable neurologic and systemic features …
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.
Schultz-Rogers L, Masuho I, Pinto E Vairo F, Schmitz CT, Schwab TL, Clark KJ, Gunderson L, Pichurin PN, Wierenga K, Martemyanov KA, Klee EW. Schultz-Rogers L, et al. Mol Genet Genomic Med. 2020 Nov;8(11):e1477. doi: 10.1002/mgg3.1477. Epub 2020 Sep 12. Mol Genet Genomic Med. 2020. PMID: 32918542 Free PMC article.
BACKGROUND: GNB1 encodes a subunit of a heterotrimeric G-protein complex that transduces intracellular signaling cascades. ...These results suggest haploinsufficiency of GNB1 is a mechanism for neurodevelopmental disorders in humans....
BACKGROUND: GNB1 encodes a subunit of a heterotrimeric G-protein complex that transduces intracellular signaling cascades. ...These r …
187 results