PMC Articles for MedGen (Select 341641) - PMC

Links from MedGen

Items: 1 to 20 of 178

<< First< Prev

Page of 9

Select item 112126361.

Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis

Marek Hampl, Nela Jandová, Denisa Lusková, Monika Nováková, Tereza Szotkowská, Štěpán Čada, Jan Procházka, Jiri Kohoutek, Marcela Buchtová

Dis Model Mech. 2024 Jun 1; 17(6): dmm050261. Published online 2024 Jun 20. doi: 10.1242/dmm.050261

PMCID:: PMC11212636

Abstract Article

Select item 111898972.

Rare variants analyses suggest novel cleft genes in the African population

Azeez Alade, Peter Mossey, Waheed Awotoye, Tamara Busch, Abimbola M. Oladayo, Emmanuel Aladenika, Mojisola Olujitan, Emma Wentworth, Deepti Anand, Thirona Naicker, Lord J. J. Gowans, Mekonen A. Eshete, Wasiu L. Adeyemo, Erliang Zeng, Eric Van Otterloo, Michael O’Rorke, Adebowale Adeyemo, Jeffrey C. Murray, Justin Cotney, Salil A. Lachke, Paul Romitti, Azeez Butali

Sci Rep. 2024; 14: 14279. Published online 2024 Jun 20. doi: 10.1038/s41598-024-65151-9

PMCID:: PMC11189897

Abstract Article PDF–3.0M

Select item 111637003.

Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultrasound: a case report and literature review

Cuixia Guo, Tiejuan Zhang, Ying Ma, Song Yue, Lijuan Sun

BMC Pregnancy Childbirth. 2024; 24: 420. Published online 2024 Jun 10. doi: 10.1186/s12884-024-06619-4

PMCID:: PMC11163700

Abstract Article PDF–9.8M

Select item 109916094.

Metformin inhibits human non-small cell lung cancer by regulating AMPK–CEBPB–PDL1 signaling pathway

Tao Lu, Ming Li, Mengnan Zhao, Yiwei Huang, Guoshu Bi, Jiaqi Liang, Zhencong Chen, Yuansheng Zheng, Junjie Xi, Zongwu Lin, Cheng Zhan, Wei Jiang, Qun Wang, Lijie Tan

Cancer Immunol Immunother. 2022 Jul; 71(7): 1733–1746. Published online 2021 Nov 27. doi: 10.1007/s00262-021-03116-x

PMCID:: PMC10991609

Abstract Article PDF–4.2M

Select item 109154725.

Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome

Dan‐Yan Zhuang, Shu‐Ni Sun, Zhuo‐Jie Hu, Min Xie, Yu‐Xin Zhang, Lu‐Lu Yan, Jie‐Wen Pan, Hai‐bo Li

Mol Genet Genomic Med. 2024 Mar; 12(3): e2405. Published online 2024 Mar 5. doi: 10.1002/mgg3.2405

PMCID:: PMC10915472

Abstract Article PDF–1.4M

Select item 108769866.

Effects of different KRAS mutants and Ki67 expression on diagnosis and prognosis in lung adenocarcinoma

Jun Wang, Liwen Dong, Zhaowei Zheng, Zhen Zhu, Baisheng Xie, Yue Xie, Xiongwei Li, Bing Chen, Pan Li

Sci Rep. 2024; 14: 4085. Published online 2024 Feb 19. doi: 10.1038/s41598-023-48307-x

PMCID:: PMC10876986

Abstract Article PDF–3.9M

Select item 105249747.

Senescent alveolar macrophages promote early-stage lung tumorigenesis

Luis I. Prieto, Ines Sturmlechner, Sara I. Graves, Cheng Zhang, Nick P. Goplen, Eunhee S. Yi, Jie Sun, Hu Li, Darren J. Baker

Cancer Cell. Author manuscript; available in PMC 2024 Jul 10.

Published in final edited form as: Cancer Cell. 2023 Jul 10; 41(7): 1261–1275.e6. Published online 2023 Jun 1. doi: 10.1016/j.ccell.2023.05.006

PMCID:: PMC10524974

Abstract Article PDF–3.4M

Select item 105248108.

Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias

Mine Koprulu, Rana Muhammad Kamran Shabbir, Sara Mumtaz, Aslıhan Tolun, Sajid Malik

Yale J Biol Med. 2023 Sep; 96(3): 367–382. Published online 2023 Sep 29. doi: 10.59249/RLAU6003

PMCID:: PMC10524810

Abstract Article PDF–1.8M

Select item 104680429.

The molecular epidemiology and antimicrobial resistance of Staphylococcus pseudintermedius canine clinical isolates submitted to a veterinary diagnostic laboratory in South Africa

Lufuno Phophi, Mohamed Abouelkhair, Rebekah Jones, Maryke Henton, Daniel N. Qekwana, Stephen A. Kania

PLoS One. 2023; 18(8): e0290645. Published online 2023 Aug 30. doi: 10.1371/journal.pone.0290645

PMCID:: PMC10468042

Abstract Article PDF–908K

Select item 1046049210.

A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele

Zoe Crane-Smith, Sandra C P De Castro, Evanthia Nikolopoulou, Paul Wolujewicz, Damian Smedley, Yunping Lei, Emma Mather, Chloe Santos, Mark Hopkinson, Andrew A Pitsillides, Genomics England Research Consortium, Richard H Finnell, M Elisabeth Ross, Andrew J Copp, Nicholas D E Greene

Hum Mol Genet. 2023 Sep 1; 32(17): 2681–2692. Published online 2023 Jun 26. doi: 10.1093/hmg/ddad094

PMCID:: PMC10460492

Abstract Article PDF–1.4M

Select item 1029936411.

Genome-Wide Identification of the YABBY Gene Family in Dendrobium Orchids and Its Expression Patterns in Dendrobium chrysotoxum

Qinyao Zheng, Xuewei Zhao, Ye Huang, Meng-Meng Zhang, Xin He, Shijie Ke, Yuanyuan Li, Cuili Zhang, Sagheer Ahmad, Siren Lan, Minghe Li, Zhong-Jian Liu

Int J Mol Sci. 2023 Jun; 24(12): 10165. Published online 2023 Jun 15. doi: 10.3390/ijms241210165

PMCID:: PMC10299364

Abstract Article PDF–5.3M

Select item 1024391512.

Diagnostic markers and potential therapeutic agents for Sjögren’s syndrome screened through multiple machine learning and molecular docking

Liqing Zhou, Haojie Wang, He Zhang, Fei Wang, Wenjing Wang, Qiong Cao, Zhihao Wei, Haitao Zhou, Shiyong Xin, Jianguo Zhang, Xiaofei Shi

Clin Exp Immunol. 2023 Jun; 212(3): 224–238. Published online 2023 Mar 29. doi: 10.1093/cei/uxad037

PMCID:: PMC10243915

Abstract Article PDF–6.8M

Select item 1014236313.

A Novel Derivative of Curcumol, HCL-23, Inhibits the Malignant Phenotype of Triple-Negative Breast Cancer and Induces Apoptosis and HO-1-Dependent Ferroptosis

Peng Zhao, Hui Song, Futian Gao, Liang Chen, Jianfei Qiu, Jun Jin, Chaolan Pan, Yunyan Tang, Meijun Chen, Yang Pan, Yanmei Li, Liejun Huang, Jue Yang, Xiaojiang Hao

Molecules. 2023 Apr; 28(8): 3389. Published online 2023 Apr 12. doi: 10.3390/molecules28083389

PMCID:: PMC10142363

Abstract Article PDF–19M

Select item 1000991314.

A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3–4

Kun Yang, Xi Wang, Wei‐Qian Wang, Ming‐Yu Han, Li‐Min Hu, Dong‐Yang Kang, Jin‐Yuan Yang, Min Liu, Xue Gao, Yong‐Yi Yuan, Jin‐Cao Xu

Mol Genet Genomic Med. 2023 Mar; 11(3): e2103. Published online 2022 Nov 14. doi: 10.1002/mgg3.2103

PMCID:: PMC10009913

Abstract Article PDF–1.6M

Select item 995896315.

MicroRNAs and Gene Regulatory Networks Related to Cleft Lip and Palate

Chihiro Iwaya, Akiko Suzuki, Junichi Iwata

Int J Mol Sci. 2023 Feb; 24(4): 3552. Published online 2023 Feb 10. doi: 10.3390/ijms24043552

PMCID:: PMC9958963

Abstract Article PDF–2.1M

Select item 966147816.

Fragment Optimization of Reversible Binding to the Switch II Pocket on KRAS Leads to a Potent, In Vivo Active KRAS^G12C Inhibitor

Joachim Bröker, Alex G. Waterson, Chris Smethurst, Dirk Kessler, Jark Böttcher, Moriz Mayer, Gerhard Gmaschitz, Jason Phan, Andrew Little, Jason R. Abbott, Qi Sun, Michael Gmachl, Dorothea Rudolph, Heribert Arnhof, Klaus Rumpel, Fabio Savarese, Thomas Gerstberger, Nikolai Mischerikow, Matthias Treu, Lorenz Herdeis, Tobias Wunberg, Andreas Gollner, Harald Weinstabl, Andreas Mantoulidis, Oliver Krämer, Darryl B. McConnell, Stephen W. Fesik

J Med Chem. 2022 Nov 10; 65(21): 14614–14629. Published online 2022 Oct 27. doi: 10.1021/acs.jmedchem.2c01120

PMCID:: PMC9661478

Abstract Article PDF–4.3M

Select item 963235817.

Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding

Paul R. Mark, Stephen A. Murray, Tao Yang, Alexandra Eby, Angela Lai, Di Lu, Jacob Zieba, Surender Rajasekaran, Elizabeth A. VanSickle, Linda Z. Rossetti, Lucia Guidugli, Kelly Watkins, Meredith S. Wright, Caleb P. Bupp, Jeremy W. Prokop

Cold Spring Harb Mol Case Stud. 2022 Oct; 8(6): a006169. doi: 10.1101/mcs.a006169

PMCID:: PMC9632358

Abstract Article PDF–16M

Select item 957629118.

APOE and Cerebral Small Vessel Disease Markers in Patients With Intracerebral Hemorrhage

Isabel Charlotte Hostettler, David Seiffge, Andrew Wong, Gareth Ambler, Duncan Wilson, Clare Shakeshaft, Gargi Banerjee, Nikhil Sharma, Hans Rolf Jäger, Hannah Cohen, Tarek A. Yousry, Rustam Al-Shahi Salman, Gregory Y.H. Lip, Martin M. Brown, Keith Muir, Henry Houlden, David J. Werring

Neurology. 2022 Sep 20; 99(12): e1290–e1298. doi: 10.1212/WNL.0000000000200851

PMCID:: PMC9576291

Abstract Article PDF–261K

Select item 937328819.

Mitochondrial ROS drive resistance to chemotherapy and immune-killing in hypoxic non-small cell lung cancer

Iris C. Salaroglio, Dimas Carolina Belisario, Muhlis Akman, Sofia La Vecchia, Martina Godel, Dario Pasquale Anobile, Giacomo Ortone, Sabrina Digiovanni, Simona Fontana, Costanzo Costamagna, Menachem Rubinstein, Joanna Kopecka, Chiara Riganti

J Exp Clin Cancer Res. 2022; 41: 243. Published online 2022 Aug 11. doi: 10.1186/s13046-022-02447-6

PMCID:: PMC9373288

Abstract Article PDF–5.1M

Select item 932376320.

Unravelling the Distinct Effects of Systolic and Diastolic Blood Pressure Using Mendelian Randomisation

Nhu Ngoc Le, Tran Q. B. Tran, Stefanie Lip, Linsay McCallum, John McClure, Anna F. Dominiczak, Dipender Gill, Sandosh Padmanabhan

Genes (Basel) 2022 Jul; 13(7): 1226. Published online 2022 Jul 9. doi: 10.3390/genes13071226

PMCID:: PMC9323763

Abstract Article PDF–1.8M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 178

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity