PMC Articles for MedGen (Select 894912) - PMC

Avinaash V. Maharaj, Emily Cottrell, Thatchawan Thanasupawat, Sjoerd D. Joustra, Barbara Triggs-Raine, Masanobu Fujimoto, Sarina G. Kant, Danielle van der Kaay, Agnes Clement-de Boers, Alice S. Brooks, Gabriel Amador Aguirre, Irene Martín del Estal, María Inmaculada Castilla de Cortázar Larrea, Ahmed Massoud, Hermine A. van Duyvenvoorde, Christiaan De Bruin, Vivian Hwa, Thomas Klonisch, Sabine Hombach-Klonisch, Helen L. Storr

JCI Insight. 2024 Mar 22; 9(6): e169425. Published online 2024 Mar 22. doi: 10.1172/jci.insight.169425

PMCID:: PMC11063932

Abstract Article PDF–2.7M

Select item 107503294.

Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome

Hsiang-Yu Lin, Chung-Lin Lee, Yuan-Rong Tu, Ya-Hui Chang, Dau-Ming Niu, Chia-Ying Chang, Pao Chin Chiu, Yen-Yin Chou, Hui-Pin Hsiao, Meng-Che Tsai, Mei-Chyn Chao, Li-Ping Tsai, Chia-Feng Yang, Pen-Hua Su, Yu-Wen Pan, Chen-Hao Lee, Tzu-Hung Chu, Chih-Kuang Chuang, Shuan-Pei Lin

Int J Med Sci. 2024; 21(1): 8–18. Published online 2024 Jan 1. doi: 10.7150/ijms.84154

PMCID:: PMC10750329

Abstract Article PDF–2.5M

Select item 103802385.

Hydration and Structural Adaptations of the Human CYP1A1, CYP1A2, and CYP1B1 Active Sites by Molecular Dynamics Simulations

Zbigniew Dutkiewicz, Renata Mikstacka

Int J Mol Sci. 2023 Jul; 24(14): 11481. Published online 2023 Jul 14. doi: 10.3390/ijms241411481

PMCID:: PMC10380238

Abstract Article PDF–5.3M

Select item 100019416.

Accelerating the Discovery of Anticancer Peptides through Deep Forest Architecture with Deep Graphical Representation

Lantian Yao, Wenshuo Li, Yuntian Zhang, Junyang Deng, Yuxuan Pang, Yixian Huang, Chia-Ru Chung, Jinhan Yu, Ying-Chih Chiang, Tzong-Yi Lee

Int J Mol Sci. 2023 Mar; 24(5): 4328. Published online 2023 Feb 21. doi: 10.3390/ijms24054328

PMCID:: PMC10001941

Abstract Article PDF–2.1M

Select item 97566217.

Efficient generation of epigenetic disease model mice by epigenome editing using the piggyBac transposon system

Takuro Horii, Sumiyo Morita, Mika Kimura, Izuho Hatada

Epigenetics Chromatin. 2022; 15: 40. Published online 2022 Dec 16. doi: 10.1186/s13072-022-00474-3

PMCID:: PMC9756621

Abstract Article PDF–3.6M

Select item 94338748.

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

Jenifer P. Suntharalingham, Miho Ishida, Ignacio Del Valle, Susanne E. Stalman, Nita Solanky, Emma Wakeling, Gudrun E. Moore, John C. Achermann, Federica Buonocore

Front Endocrinol (Lausanne) 2022; 13: 953707. Published online 2022 Aug 18. doi: 10.3389/fendo.2022.953707

PMCID:: PMC9433874

Abstract Article PDF–4.2M

Select item 94249599.

Single mutations toggle the substrate selectivity of multifunctional Camptotheca secologanic acid synthases

Justin C. Miller, Mary A. Schuler

J Biol Chem. 2022 Sep; 298(9): 102237. Published online 2022 Jul 6. doi: 10.1016/j.jbc.2022.102237

PMCID:: PMC9424959

Abstract Article PDF–2.5M

Select item 900347110.

gRDF: An Efficient Compressor with Reduced Structural Regularities That Utilizes gRePair

Tangina Sultana, Young-Koo Lee

Sensors (Basel) 2022 Apr; 22(7): 2545. Published online 2022 Mar 26. doi: 10.3390/s22072545

PMCID:: PMC9003471

Abstract Article PDF–1.3M

Select item 853071511.

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes

Afiya Andrews, Avinaash Maharaj, Emily Cottrell, Sumana Chatterjee, Pratik Shah, Louise Denvir, Katja Dumic, Artur Bossowski, Talat Mushtaq, Rade Vukovic, Mohamed Didi, Nick Shaw, Louise A Metherell, Martin O Savage, Helen L Storr

J Clin Endocrinol Metab. 2021 Nov; 106(11): e4716–e4733. Published online 2021 Jun 16. doi: 10.1210/clinem/dgab437

PMCID:: PMC8530715

Abstract Article

Select item 814245712.

Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome

Kazuki Yamazawa, Takanobu Inoue, Yoshihiro Sakemi, Toshinori Nakashima, Hironori Yamashita, Kaduki Khono, Hideki Fujita, Keisuke Enomoto, Kazuhiko Nakabayashi, Kenichiro Hata, Moeko Nakashima, Tatsuo Matsunaga, Akie Nakamura, Keiko Matsubara, Tsutomu Ogata, Masayo Kagami

J Med Genet. 2021 Jun; 58(6): 427–432. Published online 2020 Jun 23. doi: 10.1136/jmedgenet-2020-107019

PMCID:: PMC8142457

Abstract Article PDF–1.4M

Select item 807355213.

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 802870514.

Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia

Yohei Masunaga, Masayo Kagami, Fumiko Kato, Takeshi Usui, Takako Yonemoto, Kazuo Mishima, Maki Fukami, Kazushi Aoto, Hirotomo Saitsu, Tsutomu Ogata

Clin Epigenetics. 2021; 13: 73. Published online 2021 Apr 7. doi: 10.1186/s13148-021-01062-0

PMCID:: PMC8028705

Abstract Article PDF–5.5M

Select item 794775315.

Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum

Tomoko Fuke, Akie Nakamura, Takanobu Inoue, Sayaka Kawashima, Kaori Isono Hara, Keiko Matsubara, Shinichiro Sano, Kazuki Yamazawa, Maki Fukami, Tsutomu Ogata, Masayo Kagami

J Clin Endocrinol Metab. 2021 Mar; 106(3): 802–813. Published online 2020 Nov 24. doi: 10.1210/clinem/dgaa856

PMCID:: PMC7947753

Abstract Article

Select item 794062816.

A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver–Russell syndrome phenotype

Catia Mio, Lorenzo Allegri, Nadia Passon, Elisa Bregant, Eliana Demori, Alessandra Franzoni, Daniela Driul, Andrea Riccio, Giuseppe Damante, Federica Baldan

Eur J Hum Genet. 2021 Mar; 29(3): 447–454. Published online 2020 Nov 11. doi: 10.1038/s41431-020-00753-1

PMCID:: PMC7940628

Abstract Article PDF–1.1M

Select item 788419617.

Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver–Russell Syndrome

Soo Yeon Kim, Chang Ho Shin, Young Ah Lee, Choong Ho Shin, Sei Won Yang, Tae-Joon Cho, Jung Min Ko

Ann Lab Med. 2021 Jul 1; 41(4): 401–408. Published online 2021 Jul 1. doi: 10.3343/alm.2021.41.4.401

PMCID:: PMC7884196

Abstract Article PDF–329K

Select item 776205618.

Novel Variant in PLAG1 in a Familial Case with Silver–Russell Syndrome Suspicion

Yerai Vado, Arrate Pereda, Isabel Llano-Rivas, Nerea Gorria-Redondo, Ignacio Díez, Guiomar Perez de Nanclares

Genes (Basel) 2020 Dec; 11(12): 1461. Published online 2020 Dec 5. doi: 10.3390/genes11121461

PMCID:: PMC7762056

Abstract Article PDF–2.3M

Select item 759263519.

Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity

Emily Cottrell, Claudia P Cabrera, Miho Ishida, Sumana Chatterjee, James Greening, Neil Wright, Artur Bossowski, Leo Dunkel, Asma Deeb, Iman Al Basiri, Stephen J Rose, Avril Mason, Susan Bint, Joo Wook Ahn, Vivian Hwa, Louise A Metherell, Gudrun E Moore, Helen L Storr

Eur J Endocrinol. 2020 Dec; 183(6): 581–595. Published online 2020 Sep 17. doi: 10.1530/EJE-20-0474

PMCID:: PMC7592635

Abstract Article PDF–1.7M

Select item 738989020.

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature

Francesca Mercadante, Martina Busè, Emanuela Salzano, Tiziana Fragapane, Daniela Palazzo, Michela Malacarne, Maria Piccione

Ital J Pediatr. 2020; 46: 108. Published online 2020 Jul 28. doi: 10.1186/s13052-020-00866-9

PMCID:: PMC7389890

Abstract Article PDF–782K

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