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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1954 1
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1970 1
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1981 1
1982 2
1983 2
1984 2
1985 3
1987 8
1988 3
1989 2
1990 1
1991 5
1992 3
1993 5
1994 3
1995 4
1996 15
1997 14
1998 14
1999 25
2000 18
2001 14
2002 20
2003 25
2004 15
2005 12
2006 5
2007 9
2008 11
2009 12
2010 18
2011 15
2012 12
2013 21
2014 16
2015 21
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2018 22
2019 27
2020 19
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2022 39
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2024 49
2025 41

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605 results

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Page 1
Novel PLEC variants associated with infantile cholestasis.
Kor-Anantakul P, Chen HL, Chen YH, Ittiwut C, Ittiwut R, Chaijitraruch N, Suphapeetiporn K, Chongsrisawat V. Kor-Anantakul P, et al. Clin Genet. 2024 Dec;106(6):769-775. doi: 10.1111/cge.14611. Epub 2024 Aug 21. Clin Genet. 2024. PMID: 39168815
Plectin is a cytoskeletal linker of intermediate filaments, encoded by the PLEC gene. Recently, plectin mutations have been identified in a pair of siblings with progressive familial intrahepatic cholestasis. Here, we reported two unrelated infants with plectinopathy causi …
Plectin is a cytoskeletal linker of intermediate filaments, encoded by the PLEC gene. Recently, plectin mutations have been identifie …
Congenital Myasthenic Syndromes Overview.
Abicht A, Müller JS, Lochmüller H. Abicht A, et al. 2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301347 Free Books & Documents. Review.
Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.
Koskeridis F, Fancy N, Tan PF, Meena D, Evangelou E, Elliott P, Wang D, Matthews PM, Dehghan A, Tzoulaki I. Koskeridis F, et al. Nat Commun. 2024 Nov 13;15(1):9827. doi: 10.1038/s41467-024-53452-6. Nat Commun. 2024. PMID: 39537608 Free PMC article.
We prioritised rs11786896, which colocalised with Alzheimer's disease, atrial fibrillation and expression of PLEC in the heart left ventricle, and rs7529220, which colocalised with Alzheimer's disease, atrial fibrillation and expression of C1Q family genes. ...These findin …
We prioritised rs11786896, which colocalised with Alzheimer's disease, atrial fibrillation and expression of PLEC in the heart left v …
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Vahidnezhad H, Youssefian L, Harvey N, Tavasoli AR, Saeidian AH, Sotoudeh S, Varghaei A, Mahmoudi H, Mansouri P, Mozafari N, Zargari O, Zeinali S, Uitto J. Vahidnezhad H, et al. Hum Mutat. 2022 Dec;43(12):1706-1731. doi: 10.1002/humu.24434. Epub 2022 Jul 29. Hum Mutat. 2022. PMID: 35815343 Free PMC article.
Plectin, encoded by PLEC, is a cytoskeletal linker of intermediate filaments expressed in many cell types. ...This study has integrated our seven novel PLEC variants and phenotypic findings with previously published data totaling 116 variants to provide the most com …
Plectin, encoded by PLEC, is a cytoskeletal linker of intermediate filaments expressed in many cell types. ...This study has integrat …
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Ohno K, et al. Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730. Int J Mol Sci. 2023. PMID: 36835142 Free PMC article. Review.
A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, PURA, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TO …
A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAG …
deltaNp63alpha promotes radioresistance in esophageal squamous cell carcinoma through the PLEC-KEAP1-NRF2 feedback loop.
Tao J, Mao M, Lu Y, Deng L, Yu S, Zeng X, Jia W, Wu Z, Li C, Ma R, Chen H. Tao J, et al. Cell Death Dis. 2024 Nov 5;15(11):793. doi: 10.1038/s41419-024-07194-4. Cell Death Dis. 2024. PMID: 39500864 Free PMC article.
Furthermore, deltaNP63alpha plays a critical role in radioresistance by directly transactivating the expression of PLEC. PLEC competitively interacts with KEAP1, resulting in the release of NRF2 from KEAP1 and its translocation from the cytosol to the nucleus, where …
Furthermore, deltaNP63alpha plays a critical role in radioresistance by directly transactivating the expression of PLEC. PLEC …
Epoxy metabolites of linoleic acid promote the development of breast cancer via orchestrating PLEC/NFkappaB1/CXCL9-mediated tumor growth and metastasis.
Ni KD, Fu X, Luo Y, He X, Yin HH, Mo DP, Wu JX, Wu MJ, Zheng X, Liu YN, Jiang Q, Zhang LT, Lin AZ, Huang L, Pan QJ, Yin XD, Zhang HY, Meng YW, Zhou X, Pan J, Guo Z, Liu JY. Ni KD, et al. Cell Death Dis. 2024 Dec 18;15(12):901. doi: 10.1038/s41419-024-07300-6. Cell Death Dis. 2024. PMID: 39695149 Free PMC article.
Transcriptomics and proteomics analyses revealed CXCL9 and PLEC were critical for EpOME-mediated promotion of TNBC. Knockdown of CXCL9 and PLEC inhibited TNBC progression and EpOME-mediated promotion of TNBC. ...The illustration of the hypothetical mechanism CYP2J2/ …
Transcriptomics and proteomics analyses revealed CXCL9 and PLEC were critical for EpOME-mediated promotion of TNBC. Knockdown of CXCL …
Muscle-Related Plectinopathies.
Zrelski MM, Kustermann M, Winter L. Zrelski MM, et al. Cells. 2021 Sep 19;10(9):2480. doi: 10.3390/cells10092480. Cells. 2021. PMID: 34572129 Free PMC article. Review.
Besides EBS-MD, PLEC mutations lead to EBS with nail dystrophy, EBS-MD with a myasthenic syndrome, EBS with pyloric atresia, limb-girdle muscular dystrophy type R17, or EBS-Ogna. ...These models are powerful tools to study functional and molecular consequences of PLEC …
Besides EBS-MD, PLEC mutations lead to EBS with nail dystrophy, EBS-MD with a myasthenic syndrome, EBS with pyloric atresia, limb-gir …
605 results