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Select item 110443261.

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

Fabio Sippelli, Silvana Briuglia, Chiara Ferraloro, Anna Paola Capra, Emanuele Agolini, Tiziana Abbate, Giorgia Pepe, Tommaso Aversa, Malgorzata Wasniewska, Domenico Corica

BMC Pediatr. 2024; 24: 271. Published online 2024 Apr 25. doi: 10.1186/s12887-024-04761-8

PMCID:: PMC11044326

Abstract Article PDF–981K

Select item 109725832.

GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B

Yorihiro Iwasaki, Monica Reyes, Harald Jüppner, Murat Bastepe

JCI Insight. 2024 Mar 8; 9(5): e177190. Published online 2024 Jan 30. doi: 10.1172/jci.insight.177190

PMCID:: PMC10972583

Abstract Article PDF–4.0M

Select item 108308473.

DNA methylation landscape reveals GNAS as a decitabine-responsive marker in patients with acute myeloid leukemia

Shujiao He, Yan Li, Lei Wang, Yisheng Li, Lu Xu, Diya Cai, Jingfeng Zhou, Li Yu

Neoplasia. 2024 Mar; 49: 100965. Published online 2024 Jan 20. doi: 10.1016/j.neo.2024.100965

PMCID:: PMC10830847

Abstract Article PDF–4.2M

Select item 101787864.

Whole‐genome sequencing revealed a novel long‐range deletion mutation spanning GNAS in familial pseudohypoparathyroidism

Yangfan Fei, Lv Liu, Lixia Wu, Ou Wang, Xiaoping Xing, Aiping Li, Lingyi Huang

Mol Genet Genomic Med. 2023 May; 11(5): e2144. Published online 2023 Jan 20. doi: 10.1002/mgg3.2144

PMCID:: PMC10178786

Abstract Article PDF–2.6M

Select item 101049025.

The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesis

Yorihiro Iwasaki, Cagri Aksu, Monica Reyes, Birol Ay, Qing He, Murat Bastepe

J Clin Invest. 2023 Apr 17; 133(8): e167953. Published online 2023 Apr 17. doi: 10.1172/JCI167953

PMCID:: PMC10104902

Abstract Article PDF–4.5M

Select item 89477956.

Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib

Angelo Milioto, Monica Reyes, Patrick Hanna, Zentaro Kiuchi, Serap Turan, Daniel Zeve, Chhavi Agarwal, Giedre Grigelioniene, Ang Chen, Veronica Mericq, Myrto Frangos, Svetlana Ten, Giovanna Mantovani, Isidro B Salusky, Peter Tebben, Harald Jüppner

J Clin Endocrinol Metab. 2022 Apr; 107(4): e1610–e1619. Published online 2021 Nov 15. doi: 10.1210/clinem/dgab830

PMCID:: PMC8947795

Abstract Article

Select item 89042767.

Integrative RNA-omics discovers GNAS alternative splicing as a phenotypic driver of splicing factor-mutant neoplasms

Emily C. Wheeler, Shailee Vora, Daniel Mayer, Andriana G. Kotini, Malgorzata Olszewska, Samuel S. Park, Ernesto Guccione, Julie Teruya-Feldstein, Lewis Silverman, Roger K. Sunahara, Gene W. Yeo, Eirini P. Papapetrou

Cancer Discov. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: Cancer Discov. 2022 Mar 1; 12(3): 836–855. doi: 10.1158/2159-8290.CD-21-0508

PMCID:: PMC8904276

Abstract Article PDF–2.3M

Select item 85699288.

Constitutively Activating GNAS Somatic Mutation in Right Ventricular Outflow Tract Tachycardia

James E. Ip, Linna Xu, Jie Dai, Clemens Steegborn, Fabrice Jaffré, Todd Evans, Jim W. Cheung, Craig T. Basson, Gianina Panaghie, Trine Krogh-Madsen, Geoffrey W. Abbott, Bruce B. Lerman

Circ Arrhythm Electrophysiol. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Circ Arrhythm Electrophysiol. 2021 Oct; 14(10): e010082. Published online 2021 Sep 30. doi: 10.1161/CIRCEP.121.010082

PMCID:: PMC8569928

Abstract Article PDF–1.7M

Select item 85223059.

Genotype-Phenotype Correlation in Fibrous Dysplasia/McCune-Albright Syndrome

Maria Zhadina, Kelly L Roszko, Raya E S Geels, Luis F de Castro, Michael T Collins, Alison M Boyce

J Clin Endocrinol Metab. 2021 May; 106(5): 1482–1490. Published online 2021 Jan 29. doi: 10.1210/clinem/dgab053

PMCID:: PMC8522305

Abstract Article

Select item 837263710.

A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylation at GNAS-AS2

Patrick Hanna, Bruno Francou, Brigitte Delemer, Harald Jüppner, Agnès Linglart

J Clin Endocrinol Metab. 2021 Sep; 106(9): 2779–2787. Published online 2021 Mar 2. doi: 10.1210/clinem/dgab136

PMCID:: PMC8372637

Abstract Article

Select item 809046111.

Associations of GNAS Mutations with Surgical Outcomes in Patients with Growth Hormone-Secreting Pituitary Adenoma

Hyein Jung, Kyungwon Kim, Daham Kim, Ju Hyung Moon, Eui Hyun Kim, Se Hoon Kim, Cheol Ryong Ku, Eun Jig Lee

Endocrinol Metab (Seoul) 2021 Apr; 36(2): 342–350. Published online 2021 Mar 23. doi: 10.3803/EnM.2020.875

PMCID:: PMC8090461

Abstract Article PDF–351K

Select item 807355212.

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases

Pierpaola Tannorella, Daniele Minervino, Sara Guzzetti, Alessandro Vimercati, Luciano Calzari, Giuseppa Patti, Mohamad Maghnie, Anna Elsa Maria Allegri, Donatella Milani, Giulietta Scuvera, Milena Mariani, Piergiorgio Modena, Angelo Selicorni, Lidia Larizza, Silvia Russo

Genes (Basel) 2021 Apr; 12(4): 588. Published online 2021 Apr 17. doi: 10.3390/genes12040588

PMCID:: PMC8073552

Abstract Article PDF–1.5M

Select item 804808113.

A Novel GNAS Duplication Associated With Loss-of-Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib (PHP1B)

Monica Reyes, Masayo Kagami, Sayaka Kawashima, Johanna Pallotta, Dirk Schnabel, Maki Fukami, Harald Jüppner

J Bone Miner Res. Author manuscript; available in PMC 2021 Apr 15.

Published in final edited form as: J Bone Miner Res. 2021 Mar; 36(3): 546–552. Published online 2020 Nov 28. doi: 10.1002/jbmr.4209

PMCID:: PMC8048081

Abstract Article PDF–1.0M

Select item 795072014.

Shortened Fingers and Toes: GNAS Abnormalities are Not the Only Cause

Monica Reyes, Caroline Silve, Harald Jüppner

Exp Clin Endocrinol Diabetes. Author manuscript; available in PMC 2021 Mar 11.

Published in final edited form as: Exp Clin Endocrinol Diabetes. 2020 Oct; 128(10): 681–686. Published online 2019 Dec 11. doi: 10.1055/a-1047-0334

PMCID:: PMC7950720

Abstract Article PDF–471K

Select item 794796015.

Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B

Dong Li, Caleb Bupp, Michael E March, Hakon Hakonarson, Michael A Levine

J Clin Endocrinol Metab. 2020 Sep; 105(9): e3197–e3206. Published online 2020 May 21. doi: 10.1210/clinem/dgaa286

PMCID:: PMC7947960

Abstract Article

Select item 766847716.

Analysis of genetic alterations identifies the frequent mutation of GNAS in colorectal laterally spreading tumors

Yanying Nong, Yuru Zhang, Yi Zhang, Lei Pan, Junsheng Chen, Chaojun Zhu, Lu Han, Aimin Li, Side Liu

Cancer Commun (Lond) 2020 Nov; 40(11): 636–640. Published online 2020 Aug 6. doi: 10.1002/cac2.12085

PMCID:: PMC7668477

Article PDF–1.0M

Select item 757613617.

GNAS mutation detection in circulating cell-free DNA is a specific predictor for intraductal papillary mucinous neoplasms of the pancreas, especially for intestinal subtype

Tatsuo Hata, Masamichi Mizuma, Fuyuhiko Motoi, Yuko Omori, Masaharu Ishida, Kei Nakagawa, Hiroki Hayashi, Takanori Morikawa, Takashi Kamei, Toru Furukawa, Michiaki Unno

Sci Rep. 2020; 10: 17761. Published online 2020 Oct 20. doi: 10.1038/s41598-020-74868-2

PMCID:: PMC7576136

Abstract Article PDF–1.7M

Select item 738265118.

The biological basis and function of GNAS mutation in pseudomyxoma peritonei: a review

Yu-Lin Lin, Ru Ma, Yan Li

J Cancer Res Clin Oncol. 2020; 146(9): 2179–2188. Published online 2020 Jul 22. doi: 10.1007/s00432-020-03321-8

PMCID:: PMC7382651

Abstract Article PDF–1.4M

Select item 703862219.

GNAS promotes inflammation-related hepatocellular carcinoma progression by promoting STAT3 activation

Hongda Ding, Xixia Zhang, Yang Su, Changjun Jia, Chaoliu Dai

Cell Mol Biol Lett. 2020; 25: 8. Published online 2020 Feb 24. doi: 10.1186/s11658-020-00204-1

PMCID:: PMC7038622

Abstract Article PDF–2.4M

Select item 702756120.

Glucocorticoids rapidly activate cAMP production via G_αs to initiate non‐genomic signaling that contributes to one‐third of their canonical genomic effects

Francisco J. Nuñez, Timothy B. Johnstone, Maia L. Corpuz, Austin G. Kazarian, Nicole N. Mohajer, Omar Tliba, Reynold A. Panettieri, Jr., Cynthia Koziol‐White, Moom R. Roosan, Rennolds S. Ostrom

FASEB J. 2020 Feb; 34(2): 2882–2895. Published online 2019 Dec 27. doi: 10.1096/fj.201902521R

PMCID:: PMC7027561

Abstract Article PDF–1.4M

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PMC Links for Gene (Select 2778) (290)
PMC
protein GNAS isoform X7 [Homo sapiens]
protein GNAS isoform X7 [Homo sapiens]
gi|2217335065|ref|XP_047296076.1|

Protein
anion exchange protein 4 isoform X14 [Homo sapiens]
anion exchange protein 4 isoform X14 [Homo sapiens]
gi|2217357557|ref|XP_047273752.1|

Protein
PREDICTED: Homo sapiens solute carrier family 4 member 9 (SLC4A9), transcript va...
PREDICTED: Homo sapiens solute carrier family 4 member 9 (SLC4A9), transcript variant X5, mRNA
gi|2462604607|ref|XM_054353596.1|

Nucleotide
anion exchange protein 4 isoform X12 [Homo sapiens]
anion exchange protein 4 isoform X12 [Homo sapiens]
gi|2217357553|ref|XP_016865431.2|

Protein

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