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Select item 91829861.

Association of Serum 25(OH)D with Metabolic Syndrome in Chinese Women of Childbearing Age

Xiaoyun Shan, Xiayu Zhao, Siran Li, Pengkun Song, Qingqing Man, Zhen Liu, Yichun Hu, Lichen Yang

Nutrients. 2022 Jun; 14(11): 2301. Published online 2022 May 30. doi: 10.3390/nu14112301

PMCID:: PMC9182986

Abstract Article PDF–299K

Select item 90666582.

A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure

Ludmila Volozonoka, Anna Miskova, Liene Kornejeva, Inga Kempa, Veronika Bargatina, Linda Gailite

Reproduction. 2022 Jun 1; 163(6): 351–363. Published online 2022 Mar 29. doi: 10.1530/REP-21-0486

PMCID:: PMC9066658

Abstract Article PDF–2.7M

Select item 90829243.

Follicular fluid-derived exosomal miR-143-3p/miR-155-5p regulate follicular dysplasia by modulating glycolysis in granulosa cells in polycystic ovary syndrome

Jianping Cao, Peng Huo, Kuiqing Cui, Huimei Wei, Junna Cao, Jinyuan Wang, Qingyou Liu, Xiaocan Lei, Shun Zhang

Cell Commun Signal. 2022; 20: 61. Published online 2022 May 9. doi: 10.1186/s12964-022-00876-6

Correction in:: Cell Commun Signal. 2022; 20: 116.

PMCID:: PMC9082924

Abstract Article PDF–5.6M

Select item 90884794.

Reverse genetics systems for SARS‐CoV‐2

Wenhao Wang, Xiaoxue Peng, Yunyun Jin, Ji‐An Pan, Deyin Guo

J Med Virol. 2022 Jul; 94(7): 3017–3031. Published online 2022 Apr 5. doi: 10.1002/jmv.27738

PMCID:: PMC9088479

Abstract Article PDF–2.1M

Select item 90931325.

Zika Virus Induces Mitotic Catastrophe in Human Neural Progenitors by Triggering Unscheduled Mitotic Entry in the Presence of DNA Damage While Functionally Depleting Nuclear PNKP

Malgorzata Rychlowska, Abigail Agyapong, Michael Weinfeld, Luis M. Schang

J Virol. 2022 May; 96(9): e00333-22. Published online 2022 Apr 12. doi: 10.1128/jvi.00333-22

PMCID:: PMC9093132

Abstract Article PDF–5.3M

Select item 90973216.

Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene

Eleni Drosataki, Sevasti Maragkou, Kleio Dermitzaki, Ioanna Stavrakaki, Dimitra Lygerou, Helen Latsoudis, Christos Pleros, Ioannis Petrakis, Ioannis Zaganas, Kostas Stylianou

BMC Nephrol. 2022; 23: 182. Published online 2022 May 12. doi: 10.1186/s12882-022-02812-9

PMCID:: PMC9097321

Abstract Article PDF–1.6M

Select item 91077277.

Identification of the first C1 subgenotype of enterovirus 71 in the Chinese mainland in a retrospective study

Fenfen Si, Dongyan Wang, Tianjiao Ji, Yong Zhang, Shuangli Zhu, Junhan Li, Wenbo Xu, Zexin Tao, Dongmei Yan

Virol J. 2022; 19: 83. Published online 2022 May 15. doi: 10.1186/s12985-022-01810-5

PMCID:: PMC9107727

Abstract Article PDF–1.2M

Select item 91134468.

Mouse Cre drivers: tools for studying disorders of the human female neuroendocrine-reproductive axis

Anat Chemerinski, Chang Liu, Sara S Morelli, Andy V Babwah, Nataki C Douglas

Biol Reprod. 2022 May; 106(5): 835–853. Published online 2022 Jan 27. doi: 10.1093/biolre/ioac012

PMCID:: PMC9113446

Abstract Article PDF–1.1M

Select item 91189589.

Association between mutations in the FMR1 gene and ovarian dysfunction in Brazilian patients

Cinthia Ramos, Maristela Ocampos, Ingrid Tremel Barbato, Viviane Margareth Scantamburlo Niehues, Maria da Graça Bicalho, Renato Nisihara

JBRA Assist Reprod. 2022 Apr-Jun; 26(2): 237–240. doi: 10.5935/1518-0557.20210063

PMCID:: PMC9118958

Abstract Article PDF–488K

Select item 912552810.

Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta

Nelimar Cruz-Centeno, Jean F. Saenz-Maisonet, Paola M. López-Dones, Alberto Santiago-Cornier, Victor N. Ortiz-Justiniano

Am J Case Rep. 2022; 23: e935526-1–e935526-4. Published online 2022 May 18. doi: 10.12659/AJCR.935526

PMCID:: PMC9125528

Abstract Article PDF–394K

Select item 914208111.

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene

Agnieszka Stembalska, Małgorzata Rydzanicz, Wojciech Walas, Piotr Gasperowicz, Agnieszka Pollak, Victor Murcia Pienkowski, Mateusz Biela, Magdalena Klaniewska, Zuzanna Gamrot, Ewa Gronska, Rafal Ploski, Robert Smigiel

Genes (Basel) 2022 May; 13(5): 725. Published online 2022 Apr 21. doi: 10.3390/genes13050725

PMCID:: PMC9142081

Abstract Article PDF–1.0M

Select item 914494712.

Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome

Viviana Palazzo, Valentina Raglianti, Samuela Landini, Luigi Cirillo, Carmela Errichiello, Elisa Buti, Rosangela Artuso, Lucia Tiberi, Debora Vergani, Elia Dirupo, Paola Romagnani, Benedetta Mazzinghi, Francesca Becherucci

Int J Mol Sci. 2022 May; 23(10): 5641. Published online 2022 May 18. doi: 10.3390/ijms23105641

PMCID:: PMC9144947

Abstract Article PDF–1.6M

Select item 914645013.

The E484K Substitution in a SARS-CoV-2 Spike Protein Subunit Vaccine Resulted in Limited Cross-Reactive Neutralizing Antibody Responses in Mice

Longbo Hu, Yuhua Xu, Liping Wu, Jin Feng, Lu Zhang, Yongjie Tang, Xiang Zhao, Runming Mai, Liyun Chen, Lingling Mei, Yuanzhen Tan, Yingying Du, Yanping Zhen, Wenhan Su, Tao Peng

Viruses. 2022 May; 14(5): 854. Published online 2022 Apr 21. doi: 10.3390/v14050854

PMCID:: PMC9146450

Abstract Article PDF–2.2M

Select item 914668714.

Ang–Tie Angiogenic Pathway Is Distinctively Expressed in Benign and Malignant Adrenocortical Tumors

Sofia Oliveira, Sofia S. Pereira, Madalena M. Costa, Mariana P. Monteiro, Duarte Pignatelli

Int J Mol Sci. 2022 May; 23(10): 5579. Published online 2022 May 17. doi: 10.3390/ijms23105579

PMCID:: PMC9146687

Abstract Article PDF–4.8M

Select item 916166715.

C-Terminal, but Not Intact, FGF23 and EPO Are Strongly Correlatively Elevated in Patients With Gain-of-Function Mutations in HIF2A: Clinical Evidence for EPO Regulating FGF23

Kelly Lauter Roszko, Sydney Brown, Ying Pang, Thanh Huynh, Zhengping Zhuang, Karel Pacak, Michael T Collins

J Bone Miner Res. Author manuscript; available in PMC 2022 Jun 2.

Published in final edited form as: J Bone Miner Res. 2021 Feb; 36(2): 315–321. Published online 2020 Nov 22. doi: 10.1002/jbmr.4195

PMCID:: PMC9161667

Abstract Article PDF–522K

Select item 916543816.

Translational research for bone marrow failure patients

Camille Malouf, Stephen J. Loughran, Adam C. Wilkinson, Akiko Shimamura, Paula Río

Exp Hematol. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: Exp Hematol. 2022 Jan; 105: 18–21. Published online 2021 Nov 18. doi: 10.1016/j.exphem.2021.11.004

PMCID:: PMC9165438

Abstract Article PDF–61K

Select item 906191117.

Gitelman syndrome with a novel frameshift variant in SLC12A3 gene accompanied by chronic kidney disease and type 2 diabetes mellitus

Kenichiro Iio, Takayasu Mori, Saki Bessho, Yosuke Imai, Masaki Hatanaka, Hiroki Omori, Haruhiko Kouhara, Motoko Chiga, Eisei Sohara, Shinichi Uchida, Jun-Ya Kaimori

CEN Case Rep. 2022 May; 11(2): 191–195. Published online 2021 Oct 6. doi: 10.1007/s13730-021-00652-4

PMCID:: PMC9061911

Abstract Article PDF–695K

Select item 918465118.

Signaling pathways of chronic kidney diseases, implications for therapeutics

Qian Yuan, Ben Tang, Chun Zhang

Signal Transduct Target Ther. 2022; 7: 182. Published online 2022 Jun 9. doi: 10.1038/s41392-022-01036-5

PMCID:: PMC9184651

Abstract Article PDF–3.5M

Select item 918466719.

A novel FOXP3 mutation in a Chinese child with IPEX‐associated membranous nephropathy

Liwen Tan, Yunfei An, Qin Yang, Haiping Yang, Gaofu Zhang, Qiu Li, Mo Wang

Mol Genet Genomic Med. 2022 Jun; 10(6): e1945. Published online 2022 Apr 18. doi: 10.1002/mgg3.1945

PMCID:: PMC9184667

Abstract Article PDF–2.2M

Select item 919785220.

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family

Elifcan Taşdelen, Daniel G. Calame, Gulsen Akay, Tadahiro Mitani, Jawid M. Fatih, Isabella Herman, Haowei Du, Zeynep Coban-Akdemir, Dana Marafi, Shalini N. Jhangiani, Jennifer E. Posey, Richard A. Gibbs, Taylan Altıparmak, Nüket Yürür Kutlay, James R. Lupski, Davut Pehlivan

Am J Med Genet A. Author manuscript; available in PMC 2023 Jul 1.

Published in final edited form as: Am J Med Genet A. 2022 Jul; 188(7): 2153–2161. Published online 2022 Mar 24. doi: 10.1002/ajmg.a.62727

PMCID:: PMC9197852

Abstract Article PDF–633K

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