PMC Articles for MedGen (Select 867299) - PMC

Edoardo Giuili, Robin Grolaux, Catarina Z. N. M. Macedo, Laurence Desmyter, Bruno Pichon, Sebastian Neuens, Catheline Vilain, Catharina Olsen, Sonia Van Dooren, Guillaume Smits, Matthieu Defrance

Hum Genet. 2023; 142(12): 1721–1735. Published online 2023 Oct 27. doi: 10.1007/s00439-023-02609-2

PMCID:: PMC10676303

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A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult—A Case Report and Review of the Literature

Moritz Dorenkamp, Naomi Porret, Miriam Diepold, Alicia Rovó

Medicina (Kaunas) 2023 Nov; 59(11): 1953. Published online 2023 Nov 5. doi: 10.3390/medicina59111953

PMCID:: PMC10673431

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165例儿童性发育异常疾病的临床、遗传学与病理学分析

曹延延, 臧可芯, 刘颖业, 张蔷, 周云, 张双, 夏耀方, 刘蕾, 陈潇潇, 赵士猛, 刘丽君, 崔晓薇

Zhongguo Dang Dai Er Ke Za Zhi. 2023 Nov 15; 25(11): 1124–1130. Chinese. doi: 10.7499/j.issn.1008-8830.2305049

PMCID:: PMC10672952

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MYH7基因变异相关儿童心肌病表型与基因型特点的回顾性分析

刘露, 郑奎, 张英谦

Zhongguo Dang Dai Er Ke Za Zhi. 2023 Nov 15; 25(11): 1156–1160. Chinese. doi: 10.7499/j.issn.1008-8830.2306108

PMCID:: PMC10672950

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儿童原发免疫性血小板减少症IL-37、VEGFA、TGF-β1的表达及其与T细胞的相关性研究

童琳琳, 王立华, 方芳, 许彬, 郑素华

Zhongguo Dang Dai Er Ke Za Zhi. 2023 Nov 15; 25(11): 1131–1136. Chinese. doi: 10.7499/j.issn.1008-8830.2306094

PMCID:: PMC10672949

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The Role of Sirtuin-1 (SIRT1) in the Physiology and Pathophysiology of the Human Placenta

Mateusz Wątroba, Grzegorz Szewczyk, Dariusz Szukiewicz

Int J Mol Sci. 2023 Nov; 24(22): 16210. Published online 2023 Nov 11. doi: 10.3390/ijms242216210

PMCID:: PMC10671790

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The Role of BDNF, YBX1, CENPF, ZSCAN4, TEAD4, GLIS1 and USF1 in the Activation of the Embryonic Genome in Bovine Embryos

Bingnan Liu, Jiaxin Yan, Junjie Li, Wei Xia

Int J Mol Sci. 2023 Nov; 24(22): 16019. Published online 2023 Nov 7. doi: 10.3390/ijms242216019

PMCID:: PMC10671747

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Maternal Pre-Existing Diabetes: A Non-Inherited Risk Factor for Congenital Cardiopathies

Stéphanie Ibrahim, Bénédicte Gaborit, Marien Lenoir, Gwenaelle Collod-Beroud, Sonia Stefanovic

Int J Mol Sci. 2023 Nov; 24(22): 16258. Published online 2023 Nov 13. doi: 10.3390/ijms242216258

PMCID:: PMC10671602

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Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study

Tatyana A. Vasilyeva, Andrey V. Marakhonov, Anna A. Voskresenskaya, Vitaly V. Kadyshev, Natella V. Sukhanova, Marina E. Minzhenkova, Nadezhda V. Shilova, Alla A. Latyshova, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko

Genes (Basel) 2023 Nov; 14(11): 2041. Published online 2023 Nov 4. doi: 10.3390/genes14112041

PMCID:: PMC10671545

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asb5a/asb5b Double Knockout Affects Zebrafish Cardiac Contractile Function

Wanwan Cai, Yuequn Wang, Ying Luo, Luoqing Gao, Jian Zhang, Zhigang Jiang, Xiongwei Fan, Fang Li, Yulian Xie, Xiushan Wu, Yongqing Li, Wuzhou Yuan

Int J Mol Sci. 2023 Nov; 24(22): 16364. Published online 2023 Nov 15. doi: 10.3390/ijms242216364

PMCID:: PMC10671462

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SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C

Fumie Nomura, Akira Shimizu, Sumihito Togi, Hiroki Ura, Yo Niida

Genes (Basel) 2023 Nov; 14(11): 2079. Published online 2023 Nov 15. doi: 10.3390/genes14112079

PMCID:: PMC10671442

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OsmiRNA5488 Regulates the Development of Embryo Sacs and Targets OsARF25 in Rice (Oryza sativa L.)

Shengyuan Guo, Chuanjiang Zheng, Yan Wang, Yangwen Xu, Jinwen Wu, Lan Wang, Xiangdong Liu, Zhixiong Chen

Int J Mol Sci. 2023 Nov; 24(22): 16240. Published online 2023 Nov 13. doi: 10.3390/ijms242216240

PMCID:: PMC10671434

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The Exposure to Lead (Pb) Exacerbates Immunological Abnormalities in BTBR T⁺ Itpr^3tf/J Mice through the Regulation of Signaling Pathways Relevant to T Cells

Mohammed A. Assiri, Thamer H. Albekairi, Mushtaq A. Ansari, Ahmed Nadeem, Sabry M. Attia, Saleh A. Bakheet, Mudassar Shahid, Abdullah A. Aldossari, Mohammed M. Almutairi, Taghreed N. Almanaa, Mohammad Y. Alwetaid, Sheikh F. Ahmad

Int J Mol Sci. 2023 Nov; 24(22): 16218. Published online 2023 Nov 11. doi: 10.3390/ijms242216218

PMCID:: PMC10671427

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FMRP Enhances the Translation of 4EBP2 mRNA during Neuronal Differentiation

Jinbae Yu, Youngsik Woo, Heesun Kim, Sihyeon An, Sang Ki Park, Sung Key Jang

Int J Mol Sci. 2023 Nov; 24(22): 16319. Published online 2023 Nov 14. doi: 10.3390/ijms242216319

PMCID:: PMC10671300

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Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis

Emmanuelle C. Genin, Mélanie Abou-Ali, Véronique Paquis-Flucklinger

Genes (Basel) 2023 Nov; 14(11): 1981. Published online 2023 Oct 24. doi: 10.3390/genes14111981

PMCID:: PMC10671245

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Analysis of ANRIL Isoforms and Key Genes in Patients with Severe Coronary Artery Disease

Francisco Rodríguez-Esparragón, Laura B. Torres-Mata, Sara E. Cazorla-Rivero, Jaime A. Serna Gómez, Jesús M. González Martín, Ángeles Cánovas-Molina, José A. Medina-Suárez, Ayose N. González-Hernández, Lidia Estupiñán-Quintana, María C. Bartolomé-Durán, José C. Rodríguez-Pérez, Bernardino Clavo Varas

Int J Mol Sci. 2023 Nov; 24(22): 16127. Published online 2023 Nov 9. doi: 10.3390/ijms242216127

PMCID:: PMC10671206

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Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome

Doriana Misceo, Lokuliyanage Dona Samudita Senaratne, Inger-Lise Mero, Arvind Y. M. Sundaram, Pål Marius Bjørnstad, Krzysztof Szczałuba, Piotr Gasperowicz, Benjamin Kamien, Bård Nedregaard, Asbjørn Holmgren, Petter Strømme, Eirik Frengen

Genes (Basel) 2023 Nov; 14(11): 1985. Published online 2023 Oct 24. doi: 10.3390/genes14111985

PMCID:: PMC10671177

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Skeletal Morphogenesis and Anomalies in Gilthead Seabream: A Comprehensive Review

Kamel Mhalhel, Maria Levanti, Francesco Abbate, Rosaria Laurà, Maria Cristina Guerrera, Marialuisa Aragona, Caterina Porcino, Lidia Pansera, Mirea Sicari, Marzio Cometa, Marilena Briglia, Antonino Germanà, Giuseppe Montalbano

Int J Mol Sci. 2023 Nov; 24(22): 16030. Published online 2023 Nov 7. doi: 10.3390/ijms242216030