PMC Articles for MedGen (Select 510642) - PMC

Select item 69965201.

Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092)

Leslie G. Biesecker, Matthew Edwards, Sheridan O'Donnell, Paula Doherty, Thomas MacDougall, Kate Tith, Julia Kazakin, Brian Schwartz

Cold Spring Harb Mol Case Stud. 2020 Feb; 6(1): a004549. doi: 10.1101/mcs.a004549

PMCID:: PMC6996520

Abstract Article PDF–2.9M

Select item 75569512.

Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants

Wen Tian, Yingzhao Huang, Liying Sun, Yang Guo, Sen Zhao, Mao Lin, Xiying Dong, Wenyao Zhong, Yuehan Yin, Zefu Chen, Nan Zhang, Yuanqiang Zhang, Lianlei Wang, Jiachen Lin, Zihui Yan, Xinzhuang Yang, Junhui Zhao, Guixing Qiu, Jianguo Zhang, Zhihong Wu, Nan Wu, (Deciphering Disorders Involving Scoliosis, COmorbidities) study group

Orphanet J Rare Dis. 2020; 15: 288. Published online 2020 Oct 14. doi: 10.1186/s13023-020-01572-9

PMCID:: PMC7556951

Abstract Article PDF–963K

Select item 74502173.

An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature

Peter Lauffer, Erick Miranda-Laferte, Hermine A van Duyvenvoorde, Arie van Haeringen, Franziska Werner, Eveline Boudin, Hannes Schmidt, Thomas D Mueller, Michaela Kuhn, Daniëlle C M van der Kaay

J Clin Endocrinol Metab. 2020 Jul; 105(7): 2354–2366. Published online 2020 Apr 16. doi: 10.1210/clinem/dgaa190

PMCID:: PMC7450217

Abstract Article

Select item 73933694.

Activating PIK3CA mutation promotes adipogenesis of adipose-derived stem cells in macrodactyly via up-regulation of E2F1

Bin Sun, Yongkang Jiang, Hengqing Cui, Xia Fang, Gang Han, Xinyi Dai, Shengbo Zhou, Hailei Mao, Bin Wang

Cell Death Dis. 2020 Jul; 11(7): 600. Published online 2020 Jul 30. doi: 10.1038/s41419-020-02806-1

PMCID:: PMC7393369

Abstract Article PDF–1.9M

Select item 73384415.

Activating PIK3CA mutation promotes osteogenesis of bone marrow mesenchymal stem cells in macrodactyly

Hengqing Cui, Gang Han, Bin Sun, Xia Fang, Xinyi Dai, Shengbo Zhou, Hailei Mao, Bin Wang

Cell Death Dis. 2020 Jul; 11(7): 505. Published online 2020 Jul 6. doi: 10.1038/s41419-020-2723-6

PMCID:: PMC7338441

Abstract Article PDF–4.3M

Select item 58284226.

Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report

Shengjie Tian, Jianhua Zhu, Yaogang Lu

BMC Med Genet. 2018; 19: 30. Published online 2018 Feb 27. doi: 10.1186/s12881-018-0543-7

PMCID:: PMC5828422

Abstract Article PDF–935K

Select item 55939337.

Altered Adipose-Derived Stem Cell Characteristics in Macrodactyly

Xi Yang, Yongkang Jiang, Gang Han, Yuan Shi, Shengbo Zhou, Feng Ni, Bin Wang

Sci Rep. 2017; 7: 11090. Published online 2017 Sep 11. doi: 10.1038/s41598-017-11666-3

PMCID:: PMC5593933

Abstract Article PDF–4.4M

Select item 35428628.

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

Jonathan J. Rios, Nandina Paria, Dennis K. Burns, Bonnie A. Israel, Reuel Cornelia, Carol A. Wise, Marybeth Ezaki

Hum Mol Genet. 2013 Feb 1; 22(3): 444–451. Published online 2012 Oct 24. doi: 10.1093/hmg/dds440

PMCID:: PMC3542862

Abstract Article PDF–324K

Select item 34116789.

An Overgrowth Disorder Associated with Excessive Production of cGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 Gene

Kohji Miura, Noriyuki Namba, Makoto Fujiwara, Yasuhisa Ohata, Hidekazu Ishida, Taichi Kitaoka, Takuo Kubota, Haruhiko Hirai, Chikahisa Higuchi, Noriyuki Tsumaki, Hideki Yoshikawa, Norio Sakai, Toshimi Michigami, Keiichi Ozono

PLoS One. 2012; 7(8): e42180. Published online 2012 Aug 3. doi: 10.1371/journal.pone.0042180

PMCID:: PMC3411678

Abstract Article PDF–693K

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